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Case Presentation

9 mo M presents to clinic with a chief compliant


of vomiting
Case Presentation
• Mother reports the child has had a long
history of constipation and she gives him extra
water and a high fiber diet to no avail
• He has been fussy for the last three days
• Yesterday he began vomiting nonbilious
nonbloody emesis x 2
• His last BM was two days ago
• He is otherwise well
Case Presentation
• PMH: FT, uncomplicated pregnancy and
delivery
• Mother is 20yo G2P2
• Medication: polyethylene glycol (for
constipation)
• FH: 4yo sister is healthy
Case Presentation
• O/E:
• VS T 36.8 HR 110 RR 38 BP 111/65 Wt: 9.3 kg
• Gen: well-appearing and playful, well
hydrated
• Skin: no rash, no lesions
• HEENT: Normocephalic; EOMI, PERRL, sclera
nonicteric, TMs pearly and translucent;
oropharynx benign
Case Presentation
• Nodes: no cervical, axillary, inguinal
adenopathy
• CV: RRR, nl S1/S2, no m/r/g
• Lungs: clear breath sounds bilaterally
• Abdomen: soft, tenderness diffusely along
left side, no rebound, no guarding, palpable
mass in LLQ, normal bowel sounds
• Extr: warm and well perfused
Case Presentation
• Differential Dx:
– Constipation
– Wilm’s tumor
– Neuroblastoma
– Splenomegaly
– Multicystic kidney disease
– Renal tumor
• Clear cell sarcoma
• Rhabdoid tumor
• Mesoblastic nephroma
• Renal cell carcinoma
• Renal medullary cancer
Case Presentation
Studies:

• KUB: bowel gas is distributed primarily along


the right side of the abdomen; no obstruction;
minimal stool seen in the colon
• US: large mass eminating from the left kidney,
fully encapsulated
Case Presentation
Case Presentation
• Diagnosis:

Wilm’s Tumor
Wilm’s Tumor and
Neuroblastoma
Venée Tubman, MD
Children’s Hospital Boston
HEARTT
Wilm’s Tumor (WT)
• Wilm’s tumor is the most common renal
malignancy in pediatrics
• Amongst Americans, more common in African
Americans
• Slightly more common in females, bilateral
disease more common in females
WT: Associated Syndromes
• Syndrome are associated with mutations or
deletions in WT1/FWT1/FWT2/p53 genes
• Beckwith-Wiedeman syndrome: macrosomia,
macroglossia, omphalocele, large kidneys,
hemihypertrophy
• 5-10% of children will develop WT
• WAGR: WT, aniridia, GU anomalies, mental
retardation
• Denys-Drash: male pseudohermaphrodite and
renal disease
WT: Pathology
• Approximately 7% of cases have bilateral disease
• Most tumors are enclosed by renal capsule or
intrarenal pseudocapsule
• Tumor can contain a mixture of cells:
– blastemal cells
– stromal cells
– epithelial cells
• High degree of anaplasia associated with poor
outcomes
WT: CLINICAL PRESENTATION
• Many cases present with an abdominal mass
discovered by the parents during bath or
changing time
• Associated findings: abdominal pain (30%),
hematuria (12-25%), hypertension (25%)
• Firm, nontender mass which does not cross the
midline
• Examine carefully given risk of capsular rupture
• Examine for associated anomlaies
WT: EVALUATION
• KUB/US
• If available, CT (chest/abdomen)
• Labs: chemistries, LFTs, urinalysis
WT: STAGING
National Wilm’s Tumor Study (US): staging is
determined before chemotherapy is initiated
WT: STAGING
International Society of Pediatric Oncologists
(SIOP) (Europe): staging is determined after
chemotherapy is initiated for 4-6 weeks
• Stage 1: fully resected and encapsulated
• Stage 2: beyond renal capsule but fully resected
• Stage 3: extends into abdomen
• Stage 4: hematogenous spread
• Stage 5: bilateral renal disease
WT: TREATMENT
• Resection is the mainstay of treatment, but
without chemotherapy there is a high rate of
recurrence
• Stage 1 or 2: 18 weeks of vincristine and
dactinomycin
• Stage 3: 24 weeks of vincristine, doxorubicin,
and dactinomycin; and radiation to the flank
• Stage 4: 24 weeks of chemotherapy with
radiation to flank and lungs
WT: OUTCOMES
• Response rate of 90% with chemotherapy and
resection
• Best prognosis is under 2 years and stage 1
disease
• 15% recurrence rate if histology is favorable;
50% recurrence if anaplasia is present
• Complications are largely related to
chemotherapy
NEUROBLASTOMA
NEUROBLASTOMA (NB)
• Represents a variety of tumors including
neuroblastoma, ganglioneuroma,
ganglioneuroblastoma
• Tumors arise from primitive sympathetic ganglion
cells
• Characterized by variable location, histology and
behavior
• Most common extracranial solid tumor in
children,
accounting for 8% to 10% of all childhood cancers
• Prevalence is about 1 case per 7,000 live births
NB: PATHOLOGY
• Small blue round cell tumor

• MYCN oncogene is activated in neoplastic cell lines


• Associated with advanced disease and poor outcome
NB: CLINICAL
• Can occur anywhere along the sympathetic nervous
system: adrenal (40%), abdomen (25%), thoracic (15%),
cervical (5%)
• Majority of tumors are diagnosed prior to age 5
• Hepatomegaly
• Single, large left supraclavicular LN is highly suggestive
• Presentation depends on location of tumor:
– Fixed, firm abdominal mass: LE edema, abdominal pain,
obstruction
– Thoracic: incidental, Horner’s syndrome
– Paravertebral: oncologic emergency
NB: CLINICAL
• Cathecolamine secretion causes hypertenison
• Opsoclonus-myoclonus: dancing eyes, jerking
movements, ataxia
• Metastasizes to lymph nodes, bone marrow,
bone, dura, orbits, liver, skin
NB: Diagnosis
• An unequivocal pathologic diagnosis is made
from:
– tumor tissue
– increased urine (or serum) catecholamines or
metabolites
– bone marrow aspirate contains unequivocal tumor
cells AND increased urine or serum
catecholamines
NB: EVALUATION
• Excess cathecolamines cause urinary secretion
of homovanillic acid (HVA), vanillylmandelic
acid (VMA) and dopamine
• CT scan brain, chest, abdomen
• Bone marrow aspirate
NB: STAGING
International Neuroblastoma Staging System
• Stage 1: Localized tumor
• Stage 2A: Unilateral tumor with incomplete resection; identifiable lymph node
negative for tumor.
• Stage 2B: Unilateral tumor with complete or incomplete resection; with ipsilateral
lymph node positive for tumor; identifiable contralateral lymph node negative for
tumor.
• Stage 3: Tumor infiltrating across midline involvement; or unilateral tumor with
contralateral lymph node involvement; or midline tumor with bilateral lymph node
involvement.
• Stage 4: Dissemination of tumor to distant lymph nodes, bone marrow, bone, liver,
or other organs except as defined by Stage 4S.
• Stage 4S: Age <1 year old with localized primary tumor as defined in Stage 1 or 2,
with dissemination limited to liver, skin, or bone marrow (less than 10 percent of
nucleated bone marrow cells are tumors).
NB: Treatment
• Surgery, chemotherapy, radiation
• Low risk disease may warrant surgery alone
• Multiple chemotherapy regimens can be used
for intermediate arisk
• Radiation, chemotherapy, bone marrow
transplant regimens have 15% survival for high
risk disease
NB: Outcomes
• Prognosis depends on age, stage, histology,
DNA content, presence of MYCN mutation
• Good outcomes are suggested by:
• Age less than 18 months without MYCN
amplification
• Stage 4S