Tumor Markers

The Physician's Guide to Laboratory Test Selection and Interpretation
Tumor Markers
Clinical Background
Tumor and genetic markers may be useful in the diagnosis, treatment, monitoring and prognostication
®
of specific tumors. Available markers include those in the following table (most are available at ARUP
Laboratories); for recommendations, see the Diagnosis tab. The information that follows is general in nature;
for specific information regarding use and interpretation of various markers and tests, consultation with a
pathologist is highly advised.
Tumor Markers
Tumor markers - #
Marker Methodology
Malignancy
Molecular FISH IHC Other
Stain
1p/19q, d(1;19) Oligodendroglioma T
5-HIAA Carcinoid U
11q23 (MLL) Acute lymphocytic B,T B

leukemia (ALL)
B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid
Tumor markers - A
Marker Methodology
Malignancy
Stain
AccuDx FDP Bladder U
ACTH Neuroendocrine T B
AFP Hepatocellular (HCC), T B

germ cell, ovarian, GI
tract
AFP-L3% HCC B
ALK rearrangement Lymphoma, non-small T T 1

T
1
cell lung (NSCLC)
Alpha subunit Neuroendocrine T B

(pituitary)
AML1/ETO t(8;21) Acute myeloid B,T T

leukemia (AML)
API2-MLT1 t(11;18) Lymphoma, mucosa- T

associated lymphoid
tissue (MALT)
APC Colorectal T
Tumor markers - B
Marker Methodology
Malignancy
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Stain
b72.3 Mesothelioma, lung, T

breast, ovarian, colon
BF-1 Lymphoma T
BG-8 (Lewis Y) Breast, lung T B
BOB-1 Lymphoma T
BRAF V600E Lynch syndrome, T

melanoma, thyroid
®
BTA stat (Bladder Bladder U
tumor antigen)
BTA TRAK
® Bladder U
BCR/ABL1 Chronic myelogenous B B,T T

t(9;22)(q34;q11.2) leukemia (CML), ALL-
L1/L2 subtypes
BCL-6 (CD19) Lymphoma, B-ALL T T B
bcl-1/JH t(11;14) Lymphoma B T T T
bcl-2/JH t(14;18) Lymphoma B T T T
β-hCG Trophoblastic, germ T B

cell, lung, melanoma,
gastrointestinal,
ovarian
BRCA1, BRCA2 Breast B T
BRST II (GCDFP-15) Breast T
Tumor markers - C
Marker Methodology
Malignancy
Stain
c-Myc (MYC Lymphoma (Burkitt B,T T T

rearrangements lymphoma), B-ALL
[t(8;14)])
CA 125 Ovarian, cervical, T B

uterine
CA 15-3 Breast, pancreatic, B

lung, ovarian
CA 19-9 Pancreatic, gastric, F

colon, breast, biliary
tract
CA 27.29 Breast B
CA 72-4 Gastric B
C-peptide Neuroendocrine B
Calcitonin T B
Neuroendocrine,
medullary thyroid
carcinoma (MTC)
Calcium Parathyroid B
Calretinin Mesothelioma, lung T
Catecholamines Pheochromocytoma, B,U

neuroblastoma
CD2 T-ALL, lymphoma T
CD3 T-ALL, CLL, lymphoma T B
CD4 Lymphoma T
CD5 CLL, lymphoma T B
CD7 Lymphoma T
CD8 Lymphoma, bladder T
CD10 Lymphoma, ALL T B
CD14 (MY4) Leukemia/lymphoma T B,T
CD15 (Leu M1) Lymphoma/leukemia T B,T
CD19 (BCL-6) Lymphoma, B-ALL T T B
CD20 (CALLA) B-ALL, CLL, lymphoma T B,T
CD21 Lymphoma T
CD23 CLL, lymphoma T B
CD30 (Ki-1) Breast T
CD33 AML T B,T
CD38 CLL T B
CD45 Lymphoma (DLBL) T
CD52 Lymphoma T
CD56 (NCAM) Merkel cell carcinoma T B,T

(MCC), leukemia/
lymphoma
CD57 Leukemia/lymphoma T
CD64 Leukemia/lymphoma T B,T
CD68 (KP1) Glioma T
CD79A B-ALL T
CD95 (APO-1/Fas) ALL T
CD99 ALL, Ewing sarcoma, T B

osteosarcoma
CD117 (c-KIT )
1 Gastrointestinal T
1
T
1 B
1
stromal tumor (GIST) ,
leukemia/lymphoma,
melanoma
CD138 (Syndecon-1) Lymphoma T
CD173 (H2) Breast T B
CD174 (FUT3) Breast, colorectal, T B

gastric, lung
CDX2 Colorectal, ovarian, T

pancreatic,
neuroendocrine
(thyroid, parathyroid),
gastrointestinal
adenocarcinomas,
lung, thyroid
CEA (carcinoembryonic Colorectal, lung T B,F

1
antigen) polyclonal/ (including NSCLC),

monoclonal breast, ovarian, uterine;
1
MTC, pancreatic
CEACAM1 (17) Pancreatic B
CEBPA AML B,T
Chromogranin A Neuroendocrine, T B
neuroblastoma, small
cell lung (SCLC)
CHOP rearrangement Liposarcoma T
CK 5,6 Mesothelioma T
CK 7 Colorectal, NSCLC T
CK 8,18 (CAM 5.2) Carcinoid T
CK 19 fragment NSCLC, head and neck B

(CYFRA 21-1) (squamous cell)
CK 20 Bladder, colorectal, T
lung
c-KIT (CD117) Gastrointestinal T

1
T
1 B
1
stromal tumor (GIST) ,
leukemia/lymphoma,
melanoma
Cyclin D1, SP4 t(11;14) Lymphoma, CLL T T
Cytokeratin (CK) [pan Neuroendocrine T

cytokeratin AE1,3]
Tumor markers - D
Marker Methodology
Malignancy
Stain
DCP (des-gamma- HCC B

carboxy prothrombin)
DEK-NUP214 AML B
t(6;9)(p23;q34)
Tumor markers - E
Marker Methodology
Malignancy
Stain
E2A-PBX1 B-ALL B,T T

t(1;19)(q23;p13.3)
(TCF3-PBX1)
EBV-LMP1 Burkitt lymphoma, T

lymphoma/leukemia,
head and neck
EBV-EBER Lymphoma T
E-Cadherin Gastric (familial) T
EGFR Lung, head and neck, T T

colorectal, brain
EML4-ALK NSCLC T
Estrogen, progesterone Breast T

receptors
ETV6-RUNX1 ALL, sarcomas T

(TEL-AML1)
t(12;21)(p13;q22)
EWSR-E1AF Ewing sarcoma T T T

t(2;22)(q33;12)
EWR1S-ERG
t(21;22)(q22;q12)
EWS-ETV1
t(7;22)(p22;q12)
EWS-ETV4
t(12;22)(q21;q12)
EWS-FLI-1
t(11;22)(q24;q12)
Tumor markers - F
Marker Methodology
Malignancy
Stain
FLT3 AML B,T
Tumor markers - G
Marker Methodology
Malignancy
Stain
Gastrin Gastrinoma, carcinoid T B
Glucagon Glucagonoma T B
Growth hormone Neuroendocrine T B
GHRH (growth Neuroendocrine B

hormone releasing (pituitary)
hormone)
Granzyme B Lymphoma T
Tumor markers - H
Marker Methodology
Malignancy
Stain
βhCG Trophoblastic, germ T B

cell, lung, melanoma,
gastrointestinal,
ovarian
Hercept/HER2 Breast T T T B
HER2/neu
KSHV (HHV8) Kaposi sarcoma T T
HBME-1 (mesothelial Mesothelioma T

cell)
HMB45 (gp100) Melanoma, ovarian T T
HE4 Ovarian B
Helicobacter pylori Gastric (risk factor) T
HPV (hybrid capture on Endocervical, head and T

1
T
2
1
cervical brush ; ISH on neck
2
tissue )
HRPT2 Parathyroid, primary T B

hyperparathyroidism
HTLV Lymphoma T
HVA Neuroblastoma U
Hyperdiploidy (+4, +10, ALL T

+17)
Tumor markers - I
Marker Methodology
Malignancy
Stain
IGF-1 Neuroendocrine B
IGH/BCL2 Lymphoma (follicular B,T

cell)
IGH-CCND1 Lymphoma (mantle B B,T

cell), multiple myeloma
IGH rearrangement ALL T
IL3/IGH B-ALL B,T T

t(5;14)(q31;q32)
™
ImmunoCyt /uCyt+
™ Bladder U
Insulin Insulinoma T B
inv(3), t(3;3) EVI1 Leukemia B,T T
inv(16) or t(16;16) AML B,T T

CBFβ/MYH11
IGH/myc CEPA t(8;14) Burkitt lymphoma T
IgVH mutation CLL B,T
Tumor markers - J
Marker Methodology
Malignancy
Stain
JAK2 Myeloproliferative B,T

neoplasms
Tumor markers - K
Marker Methodology
Malignancy
Stain
KIT (D816V) GIST, testicular, B,T,F

1 B
1
melanoma
Ki-67 (MIB-1) Prostate, breast, T

neuroendocrine,
bladder, brain,
lymphoma
KRAS mutation Colorectal, breast, T

detection pancreatic
Tumor markers - L
Marker Methodology
Malignancy
Stain
LH/FSH Neuroendocrine T B
(pituitary)
LD Germ cell, skin B
LSA (lipid-associated Breast, gastrointestinal, B

sialic acid) lung, leukemia,
lymphoma, melanoma,
ovarian
Tumor markers - M
Marker Methodology
Malignancy
Stain
MDM2 Liposarcoma, glioma T
Melan A Melanoma T
MEN1, MEN2 Neuroendocrine, B

parathyroid
Mesomark
® Mesothelioma B
Metanephrines Pheochromocytoma B,U
Microsatellite instability Colorectal B,T B,T T

(MSI)
MLH1, MSH2, MSH6, Colorectal, Lynch B,T T

PMS2 syndrome
MLL-AF4 t(4;11) Infant leukemia B,T
MLLT3-MLL t(9;11) AML, ALL B,T T
MPO Breast T
(myeloperoxidase)
Muc-1, Muc-2, Muc-4 Pancreatic, thyroid, T B

biliary
MUC-5AC glycoprotein Pancreatic, T

cholangiocarcinoma,
gastric
MUM1/IRF4 B-cell lymphoma T

(DLBL)
Myo D-1, myogenin, Rhabdomyosarcoma T

myoglobin, myosin
Tumor markers - N
Marker Methodology
Malignancy
Stain
Neurofilament (68kDa) Brain, lung T
NPM1 AML B,T
NMP22
® Bladder U
N-myc Neuroblastoma T
NPM-ALK/NPM1 (p80) Lymphoma (anaplastic T

large cell lymphoma)
NRAS Colorectal, Lynch T T

syndrome, melanoma
NSE Neuroblastoma, SCLC, T B

neuroendocrine
Tumor markers - O
Marker Methodology
Malignancy
Stain
Oct-2 Lymphomas, breast T
Tumor markers - P
Marker Methodology
Malignancy
Stain
PAM50 Breast T
p16 Bladder T
p21 (Cip1/Waf1) Bladder T
p27 (Kip1) Bladder, breast, colon, T

stomach, lung, pituitary
p53 Breast (deletions occur T T

across most cancers),
bladder
Pancreatic polypeptide Neuroendocrine, T B

carcinoid
Philadelphia AML, CML B,T T

chromosome t(9;22)
PTH (parathyroid Neuroendocrine, T B

hormone) parathyroid
PTH-related peptide Neuroendocrine, B

parathyroid
PAX3-FKHR Rhabdomyosarcoma T
t(2;13)(q35;q14)
PAX7-FKHR
t(1;13)(p36;q14)
PAX3-FOXO4 t(x;2) Sarcoma T
PAX-5 Lymphoma, ALL T T
PCA3 Prostate B,U
PDGFRβ, PDGFRα GIST, T T

rearrangements, myeloproliferative
FGFR1, CBFB neoplasms (MPN)
PGP 9.5 Carcinoid, nerve- T

sheath tumor
PIK3CA T
Breast, brain, HCC,

colon, ovarian,
prostate, leukemia
PLAP Seminoma, T
germinoma, ovarian
PML-RARα t(15;17) AML (promyelocytic) T
Proinsulin Insulinoma T B
Prolactin Neuroendocrine T B
(pituitary)
PSA Prostate T B
PTH Parathyroid B
Tumor markers - R
Marker Methodology
Malignancy
Stain
RB-1 Bladder T
RET (MEN2a ,
1
Neuroendocrine ,
1 B
2 1 2
MEN2b ) parathyroid , MTC
RUNX1-RUNX1T1 AML, M2 subtype B,T T

(AML-ETO)
Tumor markers - S
Marker Methodology
Malignancy
Stain
S-100, S-100B Melanoma T B
SCC Ag (squamous Head and neck, B

cell carcinoma antigen) NSCLC
SKp2 Breast T
SMAD4 Colorectal B
Serotonin Carcinoid B
Somatostatin Somatostatinoma T B
Survivin Bladder T
Synaptophysin Neuroendocrine T
SYT-SSX1, STY-SSX2 Synovial sarcoma T T
Tumor markers - T
Marker Methodology
Malignancy Molecular FISH IHC Other

Stain
TA90-IC Melanoma T B
t(15;17), t(8;21), AML B,T T

t(16;16)
TCRA, TCRB T-ALL B T
TdT ALL T
Thyroglobulin Neuroendocrine T T B,F

(thyroid, parathyroid),
thyroid (well-
differentiated)
TIA-1 Lymphoma T
TSH Neuroendocrine T B
(pituitary), thyroid
TTF-1 (thyroid Thyroid, mesothelioma, T

transcription factor) sarcoma,
adenocarcinoma,
neuroendocrine
Tumor markers - U
Marker Methodology
Malignancy
Stain
UGT1A1 Colorectal B
uPA/PAI-1 Breast T
™ 1 2 1
UroVysion Bladder , pancreatic U
(bladder cancer, T
2
pancreatobiliary FISH)
Tumor markers - V
Marker Methodology
Malignancy
Stain
Villin Adenocarcinoma T
(pancreatic,
gastrointestinal)
VIP Vasoactive intestinal T B

peptide tumor
(VIPoma)
VMA Neuroblastoma U
Tumor markers - W
Marker Methodology
Malignancy
Stain
WT-1 (Wilms tumor 1) Ewing sarcoma, T

myelodysplastic
syndrome
(MDS), leukemia,
mesothelioma,
sarcoma,
adenocarcinoma
Tumor markers - Z
Marker Methodology
Malignancy
Stain
ZAP-70 CLL T B
Diagnosis
Tumor Markers and Genetic Markers – Use for Specific Malignancy
The following information is from multiple guideline sources as recommendations for use of tumor markers
and genetic markers.
Gastrointestinal
Tumor Type Marker Recommended Use Recommending
Organizations*
Hepatic AFP Monitoring ACS, NCCN, ESMO,
NACB
Early detection in high-risk ACS, NCCN, ESMO,
patients NACB
AFP-L3% Monitoring, early detection NACB
in high-risk patients,
prognosis
DCP Monitoring, early detection NACB
in high-risk patients,
prognosis
Gastric No markers with good None available NACB
evidence
Helicobacter pylori Environmental risk factor NCCN
E-Cadherin mutations Risk factor in hereditary NCCN
forms
Pancreatic CA19-9 Monitoring NCCN, ESMO, NACB
(ductal adenocarcinoma) Diagnosis NCCN, NACB
Colorectal CEA Monitoring ASCO, NACB, ESMO,
NCCN
Monitoring advanced ASCO, NACB

disease
Prognosis ASCO, ACS, ESMO,
NCCN, NACB (if used
with other prognostic
features)
KRAS mutation Predict response to EGFR NCCN, ASCO
inhibitors, prognosis
BRAF V600E Lynch syndrome risk NACB
assessment
MSI/HNPCC (molecular Colorectal and NCCN, NACB
and/or IHC) Lynch syndrome risk
assessment
MLH1, MSH2, MSH6, Lynch syndrome risk ESMO, NCCN, NACB
PMS2 assessment
ACS = American Cancer Society, NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology,
ASCO = American Society of Clinical Oncology, NACB = National Academy of Clinical Biochemistry
*Organization also searched: American Gastroenterological Association
Neuroendocrine
Organizations
All neuroendocrine tumors Chromogranin A (serum, Diagnosis NCCN, ESMO, NACB
IHC) Recurrence NACB
Monitoring NACB
Synaptophysin (serum, Diagnosis NCCN
IHC)
Prolactin (serum, IHC) Diagnosis NCCN
CK (Cytokeratin) (serum) Diagnosis NCCN
Ki-67 (MIB-1) (IHC) Diagnosis NCCN
Carcinoid 5-HIAA (urine) Diagnosis NCCN, ESMO, NACB
Monitoring for specific NCCN, ESMO, NACB
tumor
Serotonin (serum) Diagnosis NACB
Chromogranin A (serum, Diagnosis and monitoring NCCN
IHC)
Gastrin (serum, IHC) Diagnosis and monitoring NCCN
Pancreatic polypeptide Diagnosis and monitoring NCCN
(serum, IHC)
Gastrinoma Gastrin (serum, IHC) Diagnosis and monitoring NCCN, ESMO, NACB
Glucagonoma Glucagon (serum, IHC) Diagnosis and monitoring NCCN, ESMO, NACB
Pheochromocytoma Metanephrines (plasma, Diagnosis and monitoring NCCN, ESMO, NACB
urine)
Catecholamines (urine) Diagnosis and monitoring NCCN, ESMO, NACB
Insulinoma Proinsulin (serum, IHC) Diagnosis and monitoring NCCN, ESMO, NACB
Insulin (serum, IHC) Diagnosis and monitoring NCCN
C-peptide (serum, IHC) Diagnosis and monitoring NCCN
Pituitary Growth hormone (serum, Diagnosis and monitoring NCCN, ESMO, NACB
IHC)
IGF-1 (serum) Diagnosis and monitoring NCCN
Prolactin (serum, IHC) Diagnosis and monitoring NCCN
LH/FSH (serum, IHC) Diagnosis and monitoring NCCN
TSH (serum, IHC) Diagnosis and monitoring NCCN
Alpha subunit (serum, Diagnosis and monitoring NCCN
IHC)
ACTH (serum, IHC) Diagnosis and monitoring NCCN
VIPoma VIP (serum, IHC) Diagnosis and monitoring NCCN, ESMO, NACB
Pancreatic Pancreatic polypeptide Diagnosis and monitoring NCCN, ESMO, NACB
neuroendocrine (serum, IHC)
carcinoma Calcitonin (serum, IHC) Diagnosis and monitoring NCCN
PTH-related peptide Diagnosis and monitoring NCCN
(serum)
PTH (IHC) Diagnosis and monitoring NCCN
Somatostatin (serum, Diagnosis and monitoring NCCN
IHC)
NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical
Biochemistry
Lung
Organizations*
Small cell NSE (serum, IHC) Monitoring ACS, NACB
(SCLC) Prognosis NACB
Chromogranin A Prognosis NACB
Non-small cell CEA, SCC Ag Monitoring, prognosis, NACB, ASCO
(NSCLC) detecting relapse
CK19 fragment Prognosis ASCO
(CYFRA 21-1),
Mesothelioma Soluble mesothelin related Monitoring IMIG, NACB, NCCN
®
peptides (Mesomark )
CK 5,6 Diagnosis NCCN
CEA Diagnosis NCCN
b72.3 Diagnosis NCCN
WT-1 Diagnosis NCCN
TTF-1 Diagnosis NCCN
Calretinin Diagnosis NCCN

ACS = American Cancer Society, ASCO = American Society of Clinical Oncology, IMIG = International Mesothelioma Interest Group,
NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive Cancer Network
*Organizations also searched: American Thoracic Society (ATS), British Thoracic Society (BTS), American College of Chest Surgeons
(ACCP)
Female gynecologic/genitourinary
Organizations
Breast Estrogen, progesterone Predict hormone response ASCO, ESMO, NCCN,
receptor (tissue) NACB
Prognosis ASCO (do not use alone),
NCCN, NACB (do not use
alone), ACS
b72.3 Diagnosis NCCN
HER, HER2, HER-2/neu Predict response to ASCO, ESMO, ACS,
(tissue) Herceptin NCCN, NACB
Prognosis NCCN, NACB
Predict response to ASCO, NCCN, NACB
anthracyclines
uPA/PAI-1 (tissue) Prognosis ASCO, ACS, NACB
CA 15-3, CA 27-29 Monitoring advanced ASCO, ESMO, NACB,
disease ACS
CEA Monitoring advanced ASCO, NACB
disease
BRCA1, BRCA2 Identifying high-risk ASCO, NCCN, NACB
patients
HER-2/neu (serum) Monitoring, prognosis NACB
p53 Prognosis NACB
Cervical HPV Risk assessment NCCN, NACB
SCC Ag Monitoring NACB
Ovarian CA 125 Monitoring ESMO, NACB, NCCN
Differential diagnosis is NACB, NCCN
suspicious pelvic mass
Detection of recurrence ESMO, NACB, NCCN
Prognosis ESMO, NACB
βhCG Diagnosis, recurrence NCCN
Gestational trophoblastic βhCG Monitoring ACS, NACB, NCCN
Diagnosis ACS, NACB, NCCN
Bladder BTA stat ,
® Monitoring, early detection ACS, NACB, NCCN
®
BTA TRAK ,
®
NMP22 ,
™, ™
UroVysion ImmunoCyt
ASCO = American Society of Clinical Oncology, ESMO = European Society of Medical Oncology, NCCN = National Comprehensive
Cancer Network, NACB = National Academy of Clinical Biochemistry, ACS = American Cancer Society
Male Genitourinary
Organizations*
Prostate PSA Screening ACS, AUA, EAU, ESMO,
NACB, NCCN
Staging and prognosis AUA, EAU, ESMO,
NCCN, NACB
Monitoring AUA, EAU, ESMO,
NCCN, NACB
Follow-up and negative NCCN, NACB
biopsy
PCA3 Screening NACB
Bladder BTA stat ,
® Monitoring, diagnosis ACS, NACB, NCCN
®
BTA TRAK ,
®
NMP22 ,
™
UroVysion ,
™
ImmunoCyt
Germ cell (testicular) βhCG and AFP Diagnosis and ASCO, EAU, ESMO,
differential diagnosis of NACB, NCCN
nonseminomatous germ
cell cancer of the testes
Staging and prognosis ASCO, EAU, ESMO,
NACB, NCCN
Monitoring ASCO, EAU, ESMO,
NACB, NCCN
Detecting recurrence ASCO, EAU, ESMO,
NACB, NCCN
LD Diagnosis ASCO, EAU, ESMO,
NACB, NCCN
Staging and prognosis ASCO, EAU, ESMO,
NACB, NCCN
Monitoring ASCO, EAU, ESMO,
NACB, NCCN
Detecting recurrence ASCO, EAU, ESMO,
NACB, NCCN
ACS = American Cancer Society, ASCO = American Society of Clinical Oncology, AUA = American Urological Association, EAU =
European Association of Urologists, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry,
NCCN = National Comprehensive Cancer Network
Brain

Organizations
Oligodendroglioma 1p/19q Deletion by FISH Diagnosis NACB
NACB = National Academy of Clinical Biochemistry
Soft Tissue/Sarcomas
Organizations
Ewing sarcoma EWSR1 – Ewing sarcoma Diagnosis ESMO, NACB, NCCN
by RT-PCR
EWSR1 rearrangement by Diagnosis NACB, NCCN
FISH
Synovial SYT, SYT-SSX Diagnosis NACB, NCCN
SYT rearrangement by Diagnosis NACB, NCCN
FISH
Rhabdomyosarcoma PAX-FKHR Diagnosis NACB, NCCN
Kaposi sarcoma HHV8 Diagnosis NACB, NCCN
ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive
Cancer Network
Lymphoma
Organizations
B-cell and T/NK-cell IGH/BCL2 Diagnosis and NCCN, NACB
differentiation of
lymphomas
IGH/CCND1 Diagnosis of mantle cell NCCN, NACB
(MCL) subtype
API2-MLT1 t(11;18) Diagnosis of a subset of NCCN, ESMO, NACB
MALT lymphomas
ALK rearrangements Diagnosis and NCCN, NACB
differentiation
c-Myc (MYC Diagnosis and NCCN
rearrangements [t(8;14)]) differentiation of Burkitt
lymphoma
CD2, CD3, CD4, CD5, Diagnosis and NCCN, NACB
CD7, CD8, CD10, CD14, differentiation
CD15, CD19 (BCL-6),
CD20, CD21, CD23,
CD33, CD45 (LCA),
CD52, CD56, CD57,
CD64, CD79a, CD117 (c-
KIT), CD138
Cyclin D1, SP4 Diagnosis of MCL and NCCN
t(11;14) multiple myeloma
EBV-LMP1, EBV-EBER Diagnosis and NCCN

differentiation
Granzyme B Diagnosis NCCN
Ki-67 (MIB-1) Diagnosis NCCN
HTLV Diagnosis and NCCN
differentiation
PAX-5 Diagnosis and NCCN
differentiation
TIA-1 Diagnosis and NCCN
differentiation
MUM1/IRAF4 Diagnosis and NCCN
differentiation
NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical
Biochemistry
Leukemia
Organizations
ALL BCR/ABL1 Diagnosis, prognosis, NACB
monitoring
c-Myc (MYC Diagnosis and NCCN
rearrangements [t(8;14)]) differentiation
ETV6/RUNX1(TEL/AML1) Diagnosis, prognosis, NACB
t(12;21)(p13;q22) monitoring
E2A/PBX1 Diagnosis, prognosis, NACB
t(1;19)(q23;p13.3) monitoring
(TCF3-PBX1)
Hyperdiploidy (+4, +10, Diagnosis, prognosis, NACB
+17) monitoring
MLL rearrangement Diagnosis, prognosis, NACB
monitoring
IGH rearrangement Diagnosis, prognosis, NACB, NCCN
monitoring
AML RUNX1/RUNX1T1 t(8;21) Diagnosis of ESMO, NACB
prognostically important
genetic subtype
FLT3-ITD Prognosis ESMO, NACB
Philadelphia Diagnosis and prognosis NCCN
chromosome t(9;22)
inv(16) or t(16;16) of Diagnosis and prognosis ESMO, NACB, NCCN,
CBFβ/MYH11 WHO
AML1/ETO t(8;21) Diagnosis and prognosis NCCN, WHO
MLLT3-MLL t(9;11) Prognosis NCCN
c-KIT (CD117) Prognosis NCCN
NPM1 Prognosis NCCN

CEBPA Prognosis NCCN
inv(3), t(3;3) EVI1 Prognosis NCCN
DEK/NUP214 Prognosis NCCN
t(6;9)(p23;q34)
PML/RARα , t(15;17) Diagnosis ESMO, NACB, NCCN
11q23 (MLL) Prognosis ESMO, NACB, NCCN
CLL ZAP-70 Diagnosis NCCN, NACB, ESMO
Prognosis ESMO, NACB
IgVH mutation Prognosis NCCN, ESMO, NACB
CML BCR/ABL1 Diagnosis ESMO, NACB, NCCN
Prognosis NACB, NCCN
Monitoring ESMO, NACB
Philadelphia Diagnosis and prognosis NCCN
chromosome t(9;22)
ESMO = European Society of Medical Oncology, NCCN = National Comprehensive Cancer Network, NACB = National Academy of Clinical
Biochemistry, WHO = World Health Organization
Myeloproliferative Neoplasms
Organizations
Myeloproliferative JAK2 Diagnosis NACB
Myeloproliferative with PDGFRα, PDGFRβ and Diagnosis NACB, WHO
associated eosinophilia FGFR1 rearrangements
by FISH
NACB = National Academy of Clinical Biochemistry, WHO = World Health Organization
Childhood Tumors
Organizations
Neuroblastoma NSE Prognosis NACB
N-myc Prognosis NACB
HVA, VMA, Diagnosis, monitoring NACB
catecholamines
Childhood leukemia MLL-AF4 rearrangement Diagnosis NACB
BCR/ABL1 Diagnosis, prognosis, NACB, NCCN
monitoring
ETV6/RUNX1(TEL/AML1) Diagnosis, prognosis, NACB, ASCO
t(12;21)(p13;q22) monitoring
Hyperdiploidy (+4, +10, Diagnosis, prognosis, NACB
+17) monitoring
MLL-AF4, t(4;11) Diagnosis, prognosis, NACB
monitoring
ASCO = American Society of Clinical Oncology, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive
Cancer Network
Skin
Organizations
Melanoma TA90-IC Monitoring, prognosis ACS, NACB
S-100, HMB45 (gp100) Diagnosis, usually used in ACS, NACB
combination
S-100B (serum) Monitoring, prognosis ACS, NACB
c-Kit Response to therapy ACS
ACS = American Cancer Society, NACB = National Academy of Clinical Biochemistry
Head and Neck

Organizations
Squamous cell cancers SCC Ag Monitoring NACB
CK 19 fragment (CYFRA Prognosis ASCO
21-1)
HPV Risk assessment NACB
Burkitt lymphoma EBV-LMP1 Diagnosis NACB, NCCN
ASCO = American Society of Clinical Oncology, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive
Cancer Network
Thyroid/Parathyroid
Organizations
Well-differentiated BRAF V600E (tissue) Diagnosis NACB
BRAF V600E (serum) Prognosis NACB
Thyroglobulin (serum) Diagnosis, monitoring NCCN, AACE, NACB
Thyroglobulin (IHC) Diagnosis NACB
Medullary thyroid Calcitonin Monitoring, diagnosis NCCN, AACE, NACB
carcinoma CEA Diagnosis, monitoring NCCN, NACB
Parathyroid PTH, calcium Diagnosis, monitoring NCCN, NACB
PTH-related peptide Diagnosis and monitoring NCCN
Hereditary forms HRPT2 Genetic risk assessment NACB
for parathyroid
carcinoma or primary
hyperparathyroidism
MEN1 Genetic risk assessment AACE, NACB, NCCN
for MEN1
RET Genetic risk assessment AACE, NACB, NCCN
for MEN2
NCCN = National Comprehensive Cancer Network, AACE = American Association of Clinical Endocrinologists, NACB = National Academy
of Clinical Biochemistry
Lab Tests
Indications for Laboratory Testing
Tests generally appear in the order most useful for common clinical situations. For test-specific information, refer to the
test number in the ARUP Laboratory Test Directory on the ARUP Web site at www.aruplab.com.
Gastrointestinal
Test Name and Number Comments
Alpha Fetoprotein, Serum HCC tumor marker
(Tumor Marker) 0080428
Method:
Electrochemiluminescent
Immunoassay
PIK3CA Mutation HCC and colorectal tumor marker
Detection 2004510
Method:
Polymerase Chain
Reaction/Pyrosequencing
Alpha Fetoprotein, Total Risk assessment for development of HCC in patients with chronic liver diseases
and L3 Percent Effective
Immediately 0081208
Method: Liquid-Phase
Binding Immunoassay
Alpha-1-Fetoprotein (AFP) Gastrointestinal tumor marker
by Immunohistochemistry
2003436
Method:
Immunohistochemistry
Des-gamma-carboxy Tumor marker for HCC monitoring, prognosis and early detection in high-risk
Prothrombin 0081312 patients
Method: Liquid-Phase
Binding Immunoassay
Cancer Antigen-GI (CA Pancreatic cancer tumor marker
19-9), Body Fluid 0020746
Method:
Immunoassay
Cancer Antigen-GI (CA Tumor marker for pancreatic ductal adenocarcinoma
19-9) 0080461
Method:
Immunoassay
Pancreatobiliary FISH Pancreatic cancer tumor marker
2002461
Method:
Fluorescence in situ
Hybridization/Automated
Image Analysis or Manual

Screening
Carcinoembryonic Antigen Colorectal cancer tumor marker
0080080
Method:
Eletrochemiluminescent
Immunoassay
Gastrointestinal Stromal Determine presence of KIT and PDGFRA mutations
Tumor Mutation 2002674
Method: Polymerase
Chain Reaction/High
Resolution Melt Analysis
BRAF V600E Mutation Lynch syndrome tumor marker
with Reflex to MLH1
Promoter Methylation,
Paraffin 0051750
Method:
Polymerase Chain
Reaction/Fluorescence
Resonance Energy
Transfer Analysis
BRAF V600E Mutation Lynch syndrome tumor marker
Detection by PCR Predict response to EGFR-directed therapy
2002498
Method:
Polymerase Chain
Monitoring
Mismatch Repair by IHC Colorectal cancer and Lynch syndrome tumor marker
0049302
Method:
HNPCC/Lynch Syndrome, Lynch syndrome tumor marker
Microsatellite Instability by
PCR 0051740
Method: Polymerase
Chain Reaction/Fragment
Analysis
HNPCC/Lynch Syndrome Germline test for Lynch syndrome
Deletion/ For PMS2 testing, suspected deletions or duplication in exons 12-15 require
Duplication 2001728 sequencing to exclude pseudogene copy number variants
Method: Polymerase
Chain Reaction/Multiplex
Ligation-dependent Probe
Amplification
KRAS Mutation Detection Use for therapy with EGFR inhibitors
0040248 Assay detects mutations in codons 12, 13, and 61
Method:
Polymerase Chain
KRAS Mutation Detection Use for therapy with EGFR inhibitors

with Reflex to BRAF Assay detects mutations in codons 12, 13, and 61
Codon 600 Mutation
Detection 2001932 Detects mutations in codons 12, 13, and 61; if KRAS is not detected, BRAF codon
Method: Polymerase 600 Mutation Detection will be performed
Chain Reaction/
Pyrosequencing/
Fluorescence Resonance
Energy Transfer
NRAS Mutation Detection Use in metastatic tumors to predict response to EGFR-directed therapy
by Pyrosequencing
2003123
Method:
Polymerase Chain
Carcinoembryonic Gastrointestinal tumor marker
Antigen, Monoclonal
(CEA M) by
2003824
Method:
Carcinoembryonic Gastrointestinal tumor marker
Antigen, Polyclonal
(CEA P) by
2003827
Method:
E-Cadherin by Gastrointestinal tumor marker
2003869
Method:
CD117 (c-Kit) by Gastrointestinal tumor marker
2003806
Method:
Cytokeratin 7 (CK 7) by Gastrointestinal tumor marker
2003854
Method:
Helicobacter pylori by Risk marker for gastrointestinal cancer
2003941
Method:
Human Chorionic Gastrointestinal and pancreatic tumor marker
Gonadotropin (Beta-hCG)
2003920
Method:
Villin by Gastrointestinal tumor marker
2004178
Method:
CDX2 by Gastrointestinal tumor marker
2003821
Method:
Muc-1 by Gastrointestinal tumor marker
2004002
Method:
2004005
Method:
2004008
Method:
Muc 5AC by Gastrointestinal tumor marker
2003999
Method:
Breast Carcinoma b72.3 Gastrointestinal tumor marker
2003445
Method:
Gastrin by Gastrointestinal tumor marker
2003896
Method:
p27 (Kip1) by Gastrointestinal tumor marker
2004070
Method:
Cytokeratin 20 (CK 20) Gastrointestinal tumor marker

2003848
Method:
Neuroendocrine
Chromogranin A 0080469 Neuroendocrine cancer tumor marker
Method: Enzyme
Immunoassay
Chromogranin A by Neuroendocrine tumor marker
2003830
Method:
Pan Cytokeratin Neuroendocrine tumor marker
(AE1,3) by
2003433
Method:
Adrenocorticotropic Neuroendocrine tumor marker
Hormone (ACTH) by
2003427
Method:
Calcitonin by Neuroendocrine tumor marker
2003481
Method:
Growth Hormone by Neuroendocrine tumor marker
2003929
Method:
Insulin by Neuroendocrine tumor marker
2003972
Method:
Ki-67 Tissue Assay, Neuroendocrine tumor marker
Paraffin 0049270
Method:
Gastrin by Neuroendocrine tumor marker

2003896
Method:
Glucagon by Neuroendocrine tumor marker
2003902
Method:
Parathyroid Neuroendocrine tumor marker
Hormone (PTH) by
2004118
Method:
Prolactin by Neuroendocrine tumor marker
2004109
Method:
Somatostatin by Neuroendocrine tumor marker
2004133
Method:
Synaptophysin by Neuroendocrine tumor marker
2004139
Method:
Thyroglobulin by Neuroendocrine tumor marker
2004145
Method:
Thyroid Transcription Neuroendocrine tumor marker
Factor (TTF-1) by
2004166
Method:
Protein Gene Carcinoid tumor marker
Product (PGP) 9.5 by
2004091
Method:
CDX2 by Pancreatic neuroendocrine tumor marker

2003821
Method:
Cytokeratin 8,18 Carcinoid tumor marker
Low Molecular
Weight (CAM 5.2) by
2003493
Method:
Neuron Specific Enolase, Neuroendocrine tumor marker
Polyclonal (NSE P) by
2004052
Method:
5-Hydroxyindoleacetic Carcinoid tumor marker
Acid (HIAA), Urine
0080420
Method: High
Performance Liquid
Chromatography
Serotonin, Neuroendocrine cancer tumor marker
Serum 0080397
Method: High
Performance Liquid
Chromatography
Serotonin, Whole Neuroendocrine cancer tumor marker
Blood 0080395
Method: High
Performance Liquid
Chromatography
Gastrin 0070075 Neuroendocrine cancer tumor marker
Method:
Chemiluminescent
Immunoassay
Glucagon 0099165 Neuroendocrine cancer tumor marker
Method:
Radioimmunoassay
Catecholamines Neuroblastoma tumor marker
Fractionated by
LC-MS/MS, Urine Free
0080407
Method: Tandem Mass
Spectrometry
Proinsulin 0070112 Neuroendocrine cancer tumor marker
Method: Two-Site Enzyme
Immunoassay
Homovanillic Acid (HVA), Neuroblastoma tumor marker

Urine 0080422
Method: High
Performance Liquid
Chromatography
Vanillylmandelic Acid Neuroblastoma tumor marker
(VMA) & Homovanillic
Acid (HVA), Urine
0080470
Method: High
Performance Liquid
Chromatography
Metanephrines, Plasma Preferred marker for the diagnosis of pheochromocytoma
(Free) 0050184
Method: High
Performance Liquid
Chromatography
Metanephrines, Urine Pheochromocytoma tumor marker
0080436
Method: Gas
Chromatography/Mass
Spectrometry
Proinsulin/Insulin Ratio Neuroendocrine cancer tumor marker
0070256
Method: Refer to
individual components
Vasoactive Intestinal Neuroendocrine cancer tumor marker
Peptide 0099435
Method:
Radioimmunoassay
Pancreatic Polypeptide Neuroendocrine cancer tumor marker
0099436
Method:
Radioimmunoassay
Muc-1 by Neuroendocrine tumor marker
2004002
Method:
2004005
Method:
2004008
Method:
Muc 5AC by Neuroendocrine tumor marker

2003999
Method:
Lung
Neuron Specific Enolase SCLC tumor marker
0098198
Method: Enzyme-Linked
Immunosorbent Assay
Chromogranin A 0080469 SCLC tumor marker
Method: Enzyme
Immunoassay
Cytokeratin 19 Fragment SCLC tumor marker
(CYFRA 21-1), Serum
0081344
Immunosorbent Assay
Soluble Mesothelin Mesothelioma marker
Related Peptides
®
(MESOMARK ) 0081284
Immunosorbent Assay
CDX2 by Lung tumor marker
2003821
Method:
Cytokeratin 19 (CK 19) Lung tumor marker
2003845
Method:
Carcinoembryonic Lung tumor marker
Antigen, Monoclonal
(CEA M) by
2003824
Method:
Carcinoembryonic Lung tumor marker
Antigen, Polyclonal
(CEA P) by
2003827
Method:
Cytokeratin 5,6 (CK 5,6) Lung tumor marker

2003851
Method:
Chromogranin A by Lung tumor marker
2003830
Method:
Cytokeratin 7 (CK 7) by Lung tumor marker
2003854
Method:
Cytokeratin 20 (CK 20) Lung tumor marker
2003848
Method:
Wilms Tumor (WT-1), Lung tumor marker
N-terminus by
2004184
Method:
Neuron Specific Enolase, Lung tumor marker
Polyclonal (NSE P) by
2004052
Method:
Neurofilament by Lung tumor marker
2004049
Method:
Calretinin by Lung tumor marker
2003490
Method:
Breast Carcinoma b72.3 Lung tumor marker
2003445
Method:
p27 (Kip1) by Lung tumor marker
2004070
Method:
Thyroid Transcription Lung tumor marker
Factor (TTF-1) by
2004166
Method:
Human Chorionic Lung tumor marker
2003920
Method:
Female Gynecologic/Genitourinary
ERBB2 (HER-2/neu) Breast cancer tumor marker (test is graded 0-3 in a semi-quantitative manner)
(4B5) Tissue Assay,
Paraffin 2002218
Method:
ERBB2 (HER-2/neu) Breast cancer tumor marker (test is graded 0-3 in a semi-quantitative manner)
(4B5) with Reflex to
ERBB2 (HER-2/neu)
Gene Amplification by
FISH if 2+ 2002217
Method:
HER-2/neu (PATHWAY )
® Breast cancer tumor marker (test is graded 0-3 in a semi-quantitative manner)
(4B5) with Reflex to FISH
if 2+ or 3+ 2002216
Method:
ERBB2 (HercepTest®) Breast cancer tumor marker (test is graded 0-3 in a semi-quantitative manner)
Tissue Assay, Paraffin
0049174
Method:
ERRB2 (HER-2/neu) Breast cancer tumor marker
FISH 0049218
Method: Fluorescence in
situ Hybridization
ERBB2 (HER-2/neu) Breast cancer tumor marker
CISH 2002443
Method: Chromogenic in
situ Hybridization
HER-2 Gene Amplification Breast cancer tumor marker

by Monoplex PCR,
Paraffin 0049390
Method: Monoplex
Polymerase Chain
Reaction
Estrogen/Progesterone Breast cancer tumor marker
Receptor Assay, Paraffin
0049210
Method:
Carcinoembryonic Breast cancer tumor marker
Antigen, Monoclonal
(CEA M) by
2003824
Method:
Carcinoembryonic Breast cancer tumor marker
Antigen, Polyclonal
(CEA P) by
2003827
Method:
Placental Alkaline Breast cancer tumor marker
Phosphatase (PLAP) by
2004097
Method:
Human Chorionic Breast cancer tumor marker
2003920
Method:
CD30 (Ki-1) by Breast cancer tumor marker
2003547
Method:
Breast 2 (GCDFP-15) by Breast cancer tumor marker
2003472
Method:
Cancer Antigen 125 by Breast cancer tumor marker
2003478
Method:
Cytokeratin 20 (CK 20) Breast cancer tumor marker
2003848
Method:
PIK3CA Mutation Breast cancer tumor marker
Detection 2004510
Method:
Polymerase Chain
Alpha-1-Fetoprotein (AFP) Germ cell tumor marker
2003436
Method:
Breast Carcinoma b72.3 Breast cancer tumor marker
2003445
Method:
Myeloperoxidase (MPO) Breast cancer tumor marker
2004014
Method:
Cancer Antigen-Breast Breast cancer tumor marker
(CA 15-3) 0080464
Method:
Immunoassay
Cancer Antigen 27.29 Breast cancer tumor marker
0080392
Method:
Chemiluminescent
Immunoassay
Carcinoembryonic Antigen Breast cancer tumor marker
0080080
Method:
Immunoassay
Ki-67 Tissue Assay, Breast cancer tumor marker
Paraffin 0049270
Method:
HER-2/neu Quantitative Breast cancer tumor marker
by ELISA 2004672
Immunosorbent Assay
PAM50 Breast Cancer Breast cancer tumor marker

Intrinsic Classifier
2004700
Method: Reverse
Transcription/Quantitative
Polymerase Chain
Reaction
p53 Tissue Assay, Paraffin Breast and bladder cancer tumor marker
0049250
Method:
Cytology, ThinPrep Pap

® Cytologic screening for cervical cancer and its usual precursor lesions
with Reflex to Human
Papillomavirus (HPV)
DNA Probe, High Risk
8100212
®
Method: ThinPrep
2000 System/Routine
Cytopathologic
Evaluation/Nucleic Acid
Probe
Squamous Cell Cervical cancer tumor marker
Carcinoma Antigen,
Serum 0081054
Immunosorbent Assay
Human Papillomavirus Cervical cancer tumor marker
(HPV) DNA Probe, High
Risk, Cervical Brush
(Digene) 0065999
Method: Nucleic Acid
Probe
(HPV) DNA Probe,
®
High Risk SurePath
(AutoCyte) 0060744
Probe
(HPV) DNA Probe, High
®
Risk (ThinPrep ) 0060750
Probe
(HPV) High Risk in situ
Hybridization, Paraffin
2002899
Method: In situ
Hybridization
Cancer Antigen 125 Ovarian cancer tumor marker

0080462
Method:
Immunoassay
Human Epididymis Protein Ovarian cancer tumor marker
4 (HE4) 2003020
Method: Enzyme
Immunoassay
Beta-hCG, Quantitative Tumor marker for gestational trophoblastic disease and ovarian cancer
Method:
Chemiluminescent
Immunoassay
Bladder Tumor Associated Urine-based bladder cancer tumor marker
Antigen 8100500
Method: Qualitative
Immunoassay
™
UroVysion FISH Urine-based bladder cancer molecular genetic test
8100600
Method:
Image Analysis or Manual
Screening
CDX2 by Tumor marker for breast, ovarian, and uterine cancers
2003821
Method:
Placental Alkaline Germ cell (ovarian) tumor marker
2004097
Method:
p16 by Bladder cancer tumor marker
2004064
Method:
p21, WAF, CIP1 by Bladder cancer tumor marker
2004067
Method:
2004070
Method:
CD8 by Bladder cancer tumor marker
2003520
Method:
Male Genitourinary
Prostate Specific Antigen, Prostate cancer tumor marker
Ultrasensitive 0098581
Method:
Immunoassay
Prostate Specific Antigen, Prostate cancer tumor marker
Total with Reflex to Free
PSA
(Includes Free
Percentage) 0080264
Method:
Immunoassay
PIK3CA Mutation Prostate cancer tumor marker
Detection 2004510
Method:
Polymerase Chain
Prostate Specific Antigen, Marker for recurrence after radical prostatectomy
0070121
Method:
Immunoassay
PCA3 - Prostate Cancer Prostate cancer tumor marker; use if PSA is >10 ng/mL and biopsy negative
Biomarker 2001999
Method:
Transcription-mediated
Amplification/
Hybridization Protection
Assay
Bladder Tumor Associated Urine-based bladder cancer tumor marker
Antigen 8100500
Method: Qualitative
Immunoassay
®
NMP22 0080281 Male bladder cancer tumor marker
Method: Enzyme
Immunoassay
UroVysion
™
FISH Urine-based bladder cancer tumor marker
8100600
Method:
Image Analysis
or Manual Screening
Beta-hCG, Quantitative Testicular cancer (germ cell) tumor marker
Method:
Chemiluminescent
Immunoassay
Alpha Fetoprotein, Serum Testicular cancer (germ cell) tumor marker
Method:
Immunoassay
Ki-67 Tissue Assay, Bladder cancer tumor marker
Paraffin (Mib-1) 0049270
Method:
p53 Tissue Assay, Paraffin Bladder cancer tumor marker
0049250
Method:
Placental Alkaline Testicular cancer (germ cell) tumor marker
2004097
Method:
Human Chorionic Testicular cancer (germ cell) tumor marker
2003920
Method:
2004064
Method:
p21, WAF, CIP1 by Bladder cancer tumor marker
2004067
Method:
2004070
Method:
CD8 by Bladder cancer tumor marker

2003520
Method:
Cytokeratin 20 (CK 20) Bladder cancer tumor marker
2003848
Method:
Prostate Specific Antigen Prostate cancer marker
2004112
Method:
Brain
1p/19q Deletion by FISH Oligodendroglioma marker
0049360
situ Hybridization
Neurofilament by Brain tumor marker
2004049
Method:
PIK3CA Mutation Brain tumor marker
Detection 2004510
Method:
Polymerase Chain
CD68, KP1 by Glioma tumor marker
2003598
Method:
Soft Tissue/Sarcomas
EWSR1 (22q12) Gene Ewing sarcoma tumor marker
Rearrangement by FISH
0049335
situ Hybridization
SYT-SSX t(X;18) Sarcomas tumor marker
Translocations by
RT-PCR 0040114
Method: Reverse
Transcription
Polymerase Chain
Monitoring
SS18 (SYT) (18q11) Gene Sarcomas tumor marker
0049380
situ Hybridization
Kaposi Sarcomas tumor marker
Sarcoma-Associated
Herpesvirus/Human
Herpesvirus 8 0055629
Method:
Polymerase Chain
Monitoring
Herpes Virus 8 by Kaposi sarcoma tumor marker
2003932
Method:
Wilms Tumor (WT-1), Sarcomas tumor marker
N-terminus by
2004184
Method:
Myogenin (Myf4) by Rhabdomyosarcoma tumor marker
2004017
Method:
Myoglobin by Rhabdomyosarcoma tumor marker
2004031
Method:
Myosin by Rhabdomyosarcoma tumor marker
2004034
Method:
PAX-FKHR Translocation Rhabdomyosarcoma tumor marker
by RT-PCR 0040113
Method: Reverse
Transcription
Polymerase Chain
Monitoring
MDM2 Gene Amplification Sarcomas tumor marker

by FISH 2003016
situ Hybridization
Lymphoma
IGH-BCL2 (BCL-2/JH) Non-Hodgkin lymphoma (NHL) tumor marker
Translocation, t(14;18) by
PCR, Fluid 0055616
Method: Polymerase
Chain Reaction
IGH-CCND1 (BCL-1/JH) NHL tumor marker
PCR, Fluid 0055557
Method: Polymerase
Chain Reaction
Chromosome FISH, Monitor disease and identify specific abnormalities suspected clinically
Interphase 2002298 Specific FISH probes must be requested – ARUP Oncology FISH Probes menu
situ Hybridization
BIRC2-MALT1 Tumor marker for leukemia lymphoma phenotyping and mucosa-associated
(AP12-MALT1) lymphoid tissue lymphoma (MALT)
RT-PDR 0055691
Method: Reverse
Transcription Polymerase
Chain Reaction
IGH-CCND1 Fusion, Lymphoma classification/identification tumor marker
t(11;14) by FISH 0049381
situ Hybridization
MYC (8q;24) Gene Burkitt lymphoma tumor marker
2002345
situ Hybridization
CD117 (c-Kit) by Lymphoma tumor marker
2003806
Method:
Octamer Transcription Lymphoma tumor marker
Factor-2 (Oct-2) by
2004061
Method:
CD14 by Lymphoma tumor marker

2003526
Method:
CD15, Leu M1 by Lymphoma tumor marker
2003529
Method:
CD20, L26 by Lymphoma tumor marker
2003532
Method:
CD45 by Marker for diffuse large B-cell lymphoma
2003574
Method:
CD56 (NCAM) by Lymphoma tumor marker
2003589
Method:
2003592
Method:
Pax-5 by Lymphoma tumor marker
2004082
Method:
BCL-6 by Lymphoma tumor marker
2003457
Method:
Anaplastic Lymphoma Lymphoma tumor marker
Kinase 1 (ALK-1) by
2003439
Method:
Ki-67 Tissue Assay, Lymphoma tumor marker
Paraffin (Mib-1) 0049270
Method:
Cyclin D1, SP4 by Lymphoma tumor marker

2003842
Method:
MUM1/IRF4 by Lymphoma tumor marker
2003975
Method:
2003541
Method:
CD10 (CALLA) by Lymphoma tumor marker
2003523
Method:
2003520
Method:
2003514
Method:
2003517
Method:
BF-1 by Lymphoma tumor marker
2003466
Method:
B Cell Specific Octamer Lymphoma tumor marker
Binding Protein-1 (BOB-1)
2003442
Method:
2003505
Method:
2003508
Method:
2003511
Method:
CD19 by B-cell lymphoma tumor marker
2005114
Method:
CD138 (Syndecan-1) by Lymphoma tumor marker
2003812
Method:
T-cell Intracytoplasmic Lymphoma tumor marker
Antigen (TIA-1) by
2004148
Method:
Epstein-Barr Virus (EBV) Lymphoma tumor marker
By in situ Hybridization,
Paraffin 2002902
Method: In situ
Hybridization
Leukemia
Chromosome FISH, Chronic lymphocytic leukemia (CLL) tumor marker
CLL Panel 2002295
situ Hybridization
Chromosome FISH, Monitor disease and identify specific abnormalities suspected clinically
Interphase 2002298 Specific FISH probes must be requested – ARUP Oncology FISH Probes menu
situ Hybridization
TCF3-PBX1 (E2A-PBX1) Acute lymphocytic leukemia (ALL) tumor marker
RT-PCR 0055346
Method: Reverse
Transcription
Polymer/Polymerase
Chain Reaction
ETV6-RUNX1 AML tumor marker
(TEL-AML1)
RT-PCR 0056008
Method: Reverse
Chain Reaction
RUNX1-RUNX1T1 Acute myelogenous leukemia (AML) tumor marker
(AML1-ETO)
RT-PCR 0050444
Method: Reverse
Chain Reaction
CBFB-MYH1, inv(16) by AML tumor marker
RT PCR 0092209
Method: Reverse
Chain Reaction
PML/RARα FISH 2002363 AML tumor marker
situ Hybridization
ZAP-70 Analysis by Flow AML tumor marker
Cytometry 0092392
Method: Flow Cytometry
BCR-ABL1 Kinase Tumor marker to monitor drug therapy for CML and ALL
Domain Mutation Analysis Detects >90% of mutations that may lead to imatinib resistance
0040138
Method:
Polymerase Chain
Reaction/Sequencing
BCR-ABL1, Major (p210), Tumor marker for CML and ALL therapy
Quantitative 2005017
Method: Reverse
Polymerase Chain
Reaction
BCR-ABL1, Minor (p190), Tumor marker for CML and ALL therapy
Method: Reverse
Polymerase Chain
Reaction
BCR-ABL1, T315I Tumor marker for CML and ALL therapy
Mutation Detection,
Method: Reverse
Transcription
Polymerase Chain
BCR-ABL1, Major (p210), Tumor marker for CML and ALL therapy
Method: Reverse
Chain Reaction
PIK3CA Mutation Leukemia tumor marker
Detection 2004510
Method:
Polymerase Chain
CD117 (c-Kit) by Leukemia tumor marker
2003806
Method:
CD14 by Leukemia tumor marker
2003526
Method:
CD15, Leu M1 by Leukemia tumor marker
2003529
Method:
CD19 by B-cell leukemia tumor marker
2005114
Method:
CD20, L26 by Leukemia tumor marker
2003532
Method:
CD33 by AML tumor marker
2003553
Method:
CD56 (NCAM) by Leukemia tumor marker
2003589
Method:
Wilms Tumor (WT-1), Leukemia tumor marker
N-terminus by
2004184
Method:
Pax-5 by Leukemia tumor marker
2004082
Method:
CD10 (CALLA) by Leukemia tumor marker
2003523
Method:
Cyclin D1, SP4 by Leukemia tumor marker
2003842
Method:
2003541
Method:
2003505
Method:
2003508
Method:
2003514
Method:
2003592
Method:
BCL-6 by Leukemia tumor marker
2003457
Method:
CD79A by Leukemia tumor marker

2003800
Method:
TdT by Leukemia tumor marker
2004142
Method:
Epstein-Barr Virus (EBV) Leukemia tumor marker
By in situ Hybridization,
Paraffin 2002902
Method: In situ
Hybridization
Myeloproliferative Neoplasms
JAK2 Gene, V617F Myeloproliferative neoplasms (MPN) tumor marker
Mutation, Quantitation
0040168
Method: Polymerase
Chain Reaction
JAK2 Gene, V617F MPN tumor marker
Mutation, Qualitative
0051245
Method: Polymerase
Chain Reaction
JAK2 Exon 12 Mutation MPN tumor marker
Analysis by PCR 2002357
Method: Polymerase
Chain Reaction
Childhood Tumors
Neuron Specific Enolase 0098198 Marker for germ cell tumors
Method: Enzyme-Linked Immunosorbent Assay
MYCN (N-MYC) Gene Amplification by FISH 0049235 Neuroblastoma (childhood tumors) tumor marker
Method: Fluorescence in situ Hybridization
Homovanillic Acid (HVA), Urine 0080422 Neuroblastoma (childhood tumors) tumor marker
Method: High Performance Liquid Chromatography
Vanillylmandelic Acid (VMA) & Homovanillic Acid Neuroblastoma (childhood tumors) tumor marker
(HVA), Urine 0080470
Method: High Performance Liquid Chromatography
Catecholamines Fractionated by LC-MS/MS, Urine Neuroblastoma (childhood tumors) tumor marker
Free 0080407
Method: Tandem Mass Spectometry
MLL-AFF1 (MLL-AF4) Translocation, t(4;11) by Infant leukemia tumor marker

RT-PCR 0050446
Method: Reverse Transcription Polymerase Chain
Reaction
Chromosome FISH, Interphase 2002298 Monitor disease and identify specific abnormalities
Method: Fluorescence in situ Hybridization suspected clinically
Specific FISH probes must be requested – ARUP
Oncology FISH Probes menu
LSI MYC t(8q;24) by FISH 2002345 Burkitt lymphoma tumor marker
Method: Fluorescence in situ Hybridization
Skin
S-100B Protein, Serum 2001766 Monitor treatment and determine prognosis in patients
Method: Enzyme-Linked Immunosorbent Assay with melanoma
NRAS Mutation Detection by Use in metastatic tumors to predict response to
Pyrosequencing 2003123 EGFR-directed therapy
Method: Polymerase Chain Reaction/Pyrosequencing
BRAF V600E Mutation Detection by PCR 2002498 Predict response to EGFR-directed therapy
Method: Polymerase Chain Reaction/Fluorescence
Monitoring
KIT Mutations, Melanoma 2002695 Predict response to EGFR-directed therapy
Method: Polymerase Chain Reaction/High Resolution
Melt Analysis
CD117 (c-Kit) by Immunohistochemistry 2003806 Melanoma tumor marker
Method: Immunohistochemistry
CD56 (NCAM) by Immunohistochemistry 2003589 Melanoma tumor marker
Melan A by Immunohistochemistry 2003996 Melanoma tumor marker
S-100 Protein by Immunohistochemistry 2004127 Melanoma tumor marker
Melanoma Antibody, HMB45 by Melanoma tumor marker
Immunohistochemistry 2003935
Human Chorionic Gonadotropin (Beta-hCG) by Melanoma tumor marker
Immunohistochemistry 2003920
Head & Neck

Squamous Cell Tumor marker for NSCLC, head and neck cancer - squamous cell carcinoma
Carcinoma Antigen, (SCC)
Serum 0081054
Immunosorbent Assay
Cytokeratin 19 Fragment Squamous cell cancer tumor marker

(CYFRA 21-1), Serum
0081344
Immunosorbent Assay
Human Papillomavirus Head and neck cancer marker
(HPV) High Risk in situ
Hybridization, Paraffin
2002899
Method: In situ
Hybridization
Epstein-Barr Virus (EBV) Head and neck cancer marker
by in situ Hybridization,
Paraffin 2002902
Method: In situ
Hybridization
Cytokeratin 19 (CK 19) Head and neck cancer marker
2003845
Method:
CD68, KP1 by Head and neck cancer marker
2003598
Method:
Thyroid/Parathyroid
Thyroglobulin, Serum or Thyroid cancer tumor marker
Plasma 0070421
Method:
Chemiluminescent
Immunoassay
Thyroglobulin Antibody Thyroid tumor marker
0050105
Method:
Chemiluminescent
Immunoassay
BRAF V600E Mutation Thyroid cancer tumor marker
Detection by PCR
2002498
Method:
Polymerase Chain
Monitoring
Thyroglobulin, Fine Thyroid tumor marker
Needle Aspiration (FNA)
0020753
Method:
Chemiluminescent
Immunoassay
Parathyroid Hormone, Parathyroid cancer tumor marker
Intact with Calcium
0070172
Method:
Immunoassay
Multiple Endocrine Hereditary thyroid cancer genetic marker
Neoplasia Type 2 (MEN2),
RET Gene Mutations by
Sequencing 0051390
Method:
Polymerase Chain
Reaction/Sequencing
Multiple Endocrine Hereditary thyroid cancer genetic marker
Neoplasia Type 2B (RET)
2 Mutations 0051492
Method:
Polymerase Chain
Monitoring
CDX2 by Thyroid/parathyroid tumor marker
2003821
Method:
Parathyroid Parathyroid tumor marker
Hormone (PTH) by
2004118
Method:
Muc-1 by Thyroid tumor marker
2004002
Method:
2004005
Method:
2004008
Method:
Thyroglobulin by Thyroid tumor marker

2004145
Method:
Thyroid Transcription Thyroid tumor marker
Factor (TTF-1) by
2004166
Method:
p27 (Kip1) by Thyroid tumor marker
2004070
Method:
Calcitonin by Parathyroid tumor marker
2003481
Method:
Guidelines
National Academy of Clinical Biochemistry. [Accessed: 27 Apr 2009]
NCCN Clinical Practice Guidelines. National Comprehensive Cancer Network. Fort Washington: Pennsylvania
[Accessed: 3 Feb 2011]
General References
Bakhshi S, Radhakrishnan V. Prognostic markers in osteosarcoma.Expert Rev Anticancer Ther. 2010; 10 (2) :271-287.
Duffy MJ, Sturgeon C, Lamerz R, Haglund C, Holubec VL, Klapdor R, Nicolini A, Topolcan O, Heinemann V. Tumor
markers in pancreatic cancer: a European Group on Tumor Markers (EGTM) status report.Ann Oncol. 2010; 21 (3)
:441-447.
McGuire BB, Fitzpatrick JM. Biomarkers in renal cell carcinoma.Curr Opin Urol. 2009; 19 (5) :441-446.
Mowatt G, Zhu S, Kilonzo M, Boachie C, Fraser C, Griffiths TR, N'Dow J, Nabi G, Cook J, Vale L. Systematic review of
the clinical effectiveness and cost-effectiveness of photodynamic diagnosis and urine biomarkers (FISH, ImmunoCyt,
NMP22) and cytology for the detection and follow-up of bladder cancer.Health Technol Assess. 2010; 14 (4) :1-iv.
Na YJ, Farley J, Zeh A, del Carmen M, Penson R, Birrer MJ. Ovarian cancer: markers of response.Int J Gynecol
Cancer. 2009; 19 Suppl 2 :S21-S29.
Nikiforova MN, Nikiforov YE. Molecular diagnostics and predictors in thyroid cancer.Thyroid. 2009; 19 (12) :1351-1361.
O'Toole D, Grossman A, Gross D, Delle Fave G, Barkmanova J, O'Connor J, Pape UF, Plockinger
U. ENETS Consensus Guidelines for the Standards of Care in Neuroendocrine Tumors: biochemical
markers.Neuroendocrinology. 2009; 90 (2) :194-202.
Ringel MD. Molecular markers of aggressiveness of thyroid cancer.Curr Opin Endocrinol Diabetes Obes. 2009; 16 (5)
:361-366.
Rodriguez H, Tezak Z, Mesri M, Carr SA, Liebler DC, Fisher SJ, Tempst P, Hiltke T, Kessler LG, Kinsinger CR, Philip
R, Ransohoff DF, Skates SJ, Regnier FE, Anderson NL, Mansfield E. Analytical validation of protein-based multiplex
assays: a workshop report by the NCI-FDA interagency oncology task force on molecular diagnostics.Clin Chem.
2010; 56 (2) :237-243.
Tzankov A, Zlobec I, Went P, Robl H, Hoeller S, Dirnhofer S. Prognostic immunophenotypic biomarker studies in
diffuse large B cell lymphoma with special emphasis on rational determination of cut-off scores.Leuk Lymphoma. 2010;
51 (2) :199-212.
References from the ARUP Institute for Clinical and Experimental Pathology®
Bahler DW, Szankasi P, Kulkarni S, Tubbs RR, Cook JR, Swerdlow SH. Use of similar immunoglobulin VH gene
segments by MALT lymphomas of the ocular adnexa.Mod Pathol. 2009; 22 (6) :833-838.
Chernock RD, Perry A, Pfeifer JD, Holden JA, Lewis JS Jr. Receptor tyrosine kinases in sinonasal undifferentiated
carcinomas--evaluation for EGFR, c-KIT, and HER2/neu expression.Head Neck. 2009; 31 (7) :919-927.
Lim MS, Carlson ML, Crockett DK, Fillmore GC, Abbott DR, Elenitoba-Johnson OF, Tripp SR, Rassidakis GZ,
Medeiros LJ, Szankasi P, Elenitoba-Johnson KS. The proteomic signature of NPM/ALK reveals deregulation of
multiple cellular pathways.Blood. 2009; 114 (8) :1585-1595.
Margraf RL, Calderon FR, Mao R, Wittwer CT. RET mutation scanning update: exon 15.Clin Chem. 2009; 55 (11)
:2059-2061.
Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, Vickery T, Davies S, Fauron C, He X, Hu Z, Quackenbush JF,
Stijleman IJ, Palazzo J, Marron JS, Nobel AB, Mardis E, Nielsen TO, Ellis MJ, Perou CM, Bernard PS. Supervised risk
predictor of breast cancer based on intrinsic subtypes.J Clin Oncol. 2009; 27 (8) :1160-1167.
Poirel HA, Cairo MS, Heerema NA, Swansbury J, Auperin A, Launay E, Sanger WG, Talley P, Perkins SL, Raphael
M, McCarthy K, Sposto R, Gerrard M, Bernheim A, Patte C. Specific cytogenetic abnormalities are associated with a
significantly inferior outcome in children and adolescents with mature B-cell non-Hodgkin's lymphoma: results of the
FAB/LMB 96 international study.Leukemia. 2009; 23 (2) :323-331.
Slattery ML, Wolff RK, Herrick J, Caan BJ, Samowitz W. Tumor markers and rectal cancer: support for an
inflammation-related pathway.Int J Cancer. 2009; 125 (7) :1698-1704.
Reviewed by
Bahler, David W., MD, PhD. Medical Director, Hematologic Flow Cytometry at ARUP Laboratories; Associate
Professor of Pathology, University of Utah
Grenache, David G., PhD. Medical Director, Special Chemistry at ARUP Laboratories; Associate Professor of
Pathology (Clinical), University of Utah
Jarboe, Elke, MD. Assistant Medical Director, Immunohistochemistry and Cytopathology R&D at ARUP Laboratories;
Assistant Professor, Anatomic Pathology, University of Utah
Kelley, Todd, MD, MS. Co-Medical Director, Molecular Hematopathology at ARUP Laboratories; Assistant Professor of
Pathology, University of Utah
Layfield, Lester, MD. Fine-Needle Aspiration Services and Molecular Diagnostics at ARUP Laboratories; Professor
and Head, Surgical Pathology, University of Utah
Mao, Rong, MD. Medical Director, Molecular Genetics, Fragment Analysis and Sequencing at ARUP Laboratories;
Assistant Professor of Pathology (Clinical), University of Utah
Meikle, A. Wayne, MD. Medical Director, RIA and Endocrinology at ARUP Laboratories; Professor of Internal Medicine
and Pathology, University of Utah
Prchal, Josef T., MD. Medical Director, Special Genetics at ARUP Laboratories; Professor of Hematology, Pathology
and Genetics, University of Utah
Roberts, William L., MD, PhD. Medical Director, Automated Core Laboratory at ARUP Laboratories; Professor of
Pathology, University of Utah
Samowitz, Wade S., MD. Medical Director, AP Oncology at ARUP Laboratories; Professor of Pathology, University of
Utah
South, Sarah T., PhD. Medical Director, Cytogenetics and Molecular Cytogenetics at ARUP Laboratories; Assistant
Professor, Department of Pediatrics, Adjunct Professor, Department of Pathology, University of Utah
Related Content
Acute Lymphoblastic Leukemia - ALL
Acute Myeloid Leukemia - AML
Bladder Cancer
Breast Cancer
Carcinoid Tumors
Central Nervous System Tumors - Brain Tumors
Cervical Cancer
Chronic Lymphocytic Leukemia - CLL
Chronic Myelogenous Leukemia - CML
Colorectal Cancer
Ewing Sarcoma
Glucagonoma
Hepatocellular Carcinoma
Human Papillomavirus - HPV
Insulinoma
Lung Cancer
Lymphoma Phenotyping
Lymphomas, B-Cell - B-Cell Lymphomas
Lymphomas, T/NK-Cell - T/NK-Cell Lymphomas
Lynch Syndrome - Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Melanoma
Mesothelioma
Multiple Endocrine Neoplasias - MEN
Myeloproliferative Neoplasms - MPN
Neuroblastoma
Neuropathic Disease
Ovarian Cancer
Pancreatic Cancer
Pancreatic Neuroendocrine Tumors - NET
Paraneoplastic Neurological Syndromes
Pheochromocytoma
Plasma Cell Dyscrasias

Prostate Cancer - PSA
Sarcoma
Somatostatinoma
Sézary Syndrome
Testicular Cancer
Thyroid Cancer
Vasoactive Intestinal Polypeptide Secreting Tumor - VIPoma
Zollinger-Ellison Syndrome - Gastrinoma
Comprehensive Review: December 2010

Last Update: May 2011

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The Physician's Guide to Laboratory Test Selection and Interpretation

1p/19q, d(1;19) Oligodendroglioma T

11q23 (MLL) Acute lymphocytic B,T B

AccuDx FDP Bladder U

AFP Hepatocellular (HCC), T B

ALK rearrangement Lymphoma, non-small T T 1

Alpha subunit Neuroendocrine T B

AML1/ETO t(8;21) Acute myeloid B,T T

API2-MLT1 t(11;18) Lymphoma, mucosa- T

b72.3 Mesothelioma, lung, T

BG-8 (Lewis Y) Breast, lung T B

BRAF V600E Lynch syndrome, T

BCR/ABL1 Chronic myelogenous B B,T T

BCL-6 (CD19) Lymphoma, B-ALL T T B

bcl-1/JH t(11;14) Lymphoma B T T T

bcl-2/JH t(14;18) Lymphoma B T T T

β-hCG Trophoblastic, germ T B

BRCA1, BRCA2 Breast B T

BRST II (GCDFP-15) Breast T

c-Myc (MYC Lymphoma (Burkitt B,T T T

CA 125 Ovarian, cervical, T B

CA 15-3 Breast, pancreatic, B

CA 19-9 Pancreatic, gastric, F

Calretinin Mesothelioma, lung T

Catecholamines Pheochromocytoma, B,U

CD2 T-ALL, lymphoma T

CD3 T-ALL, CLL, lymphoma T B

CD5 CLL, lymphoma T B

CD8 Lymphoma, bladder T

CD10 Lymphoma, ALL T B

CD14 (MY4) Leukemia/lymphoma T B,T

CD15 (Leu M1) Lymphoma/leukemia T B,T

CD19 (BCL-6) Lymphoma, B-ALL T T B

CD20 (CALLA) B-ALL, CLL, lymphoma T B,T

CD23 CLL, lymphoma T B

CD30 (Ki-1) Breast T

CD33 AML T B,T

CD45 Lymphoma (DLBL) T

CD56 (NCAM) Merkel cell carcinoma T B,T

CD64 Leukemia/lymphoma T B,T

CD68 (KP1) Glioma T

CD95 (APO-1/Fas) ALL T

CD99 ALL, Ewing sarcoma, T B

CD138 (Syndecon-1) Lymphoma T

CD173 (H2) Breast T B

CD174 (FUT3) Breast, colorectal, T B

CDX2 Colorectal, ovarian, T

CEA (carcinoembryonic Colorectal, lung T B,F

antigen) polyclonal/ (including NSCLC),

CEACAM1 (17) Pancreatic B

CEBPA AML B,T

CHOP rearrangement Liposarcoma T

CK 8,18 (CAM 5.2) Carcinoid T

CK 19 fragment NSCLC, head and neck B

c-KIT (CD117) Gastrointestinal T

Cyclin D1, SP4 t(11;14) Lymphoma, CLL T T

Cytokeratin (CK) [pan Neuroendocrine T

DCP (des-gamma- HCC B

E2A-PBX1 B-ALL B,T T

EBV-LMP1 Burkitt lymphoma, T

E-Cadherin Gastric (familial) T

EGFR Lung, head and neck, T T

Estrogen, progesterone Breast T

ETV6-RUNX1 ALL, sarcomas T