R2 Vladimir Borda Belizario

Introduction
• Retinoblastoma was first described by Pawius in
the sixteenth century.
• In one thousand eight hundred nine it was
discovered that RB originates in the retina, when
Wardrop dissects the eyes with retinoblastoma.
• The incidence of retinoblastoma is 1 in 15,000 to
18,000 live births.
• There is no variation between the different races
and gender.
• It is estimated that there are 5,000 new cases a
year around the world.
Received: 15 March 2017 /Accepted: 18 May 2017 # Dr. K C Chaudhuri Foundation 2017
 Retinoblastoma Genetics
Malignant tumor associated
with somatic mutation or
germinal mutation. Knudson
described the occurrence of
concomitant mutations for
the conversion of a normal
cell from the retina into a
malignant cell.

Received: 15 March 2017 /Accepted: 18 May 2017 # Dr. K C Chaudhuri Foundation 2017
 Retinoblastoma Genetics

Received: 15 March 2017 /Accepted: 18 May 2017 # Dr. K C Chaudhuri Foundation 2017
• Hereditary RB constitutes 30-40% of all
retinoblastomas.
• The non-inheritable RB constitutes 60-70%.
RB1 is a tumor suppressor gene located on the
long arm of chromosome 13 (13q).
 Clinical Features
• leukocoria

• squint

• The bad vision

• red eye pain

• vitreous hemorrhage

• ocular globe analysis

• sterile orbital cellulitis

• proptosis
Diagnostic
 DIAGNOSIS
Tests to determine if there is retinoblastoma.
disseminated

Orthopaedosphthalmoscopy with mydriasis

Ecography
TAC
RMN Lumbar puncture.
International classification of
retinoblastoma
Decision-making in the management of
retinoblastoma: treatment options
 TREATMENT
6 types of standard treatment are used:
Enucleation
Radiotherapy
Cryotherapy
Photocoagulation Thermotherapy
Chemotherapy.
Gene therapy and retinoblastoma
A gene therapy could be used as a treatment future
of retinoblastoma. GEN P107 MUST BE
INACTIVATED TO AVOID THE RETINOBLASTOMA
 MELFALAN
DESCRIPCION
familia de los quimioterápicos alquilantes.
Se utiliza en el tratamiento del mieloma múltiple, en el cáncer
testicular, cáncer de mama y de ovario, en el linfoma no de
Hogdkin y en el sarcoma osteogénico. Se administra por vía
oral o intravenosa.
Mecanismo de acción:
Interfieren en la síntesis del ADN actuando sobre las enzimas
o los sustratos que participan en la misma.

El melfalan no discrimina entre las células normales y las

cancerosas por lo que también tiene propiedades citotóxicas,
mutagénicas y carcinogénicas.
The salvage of the eyes in retinoblastoma has been historically limited
by the presence of seeds, which consist of small tumor foci in the
vitreous and subretinal space that can give rise to multiple new
tumors, tumor relapse and subsequent loss of the eye.

The efficacy of intravitreal melphalan is 100% success in the

eradication of vitreous seeding and high rates of balloon recovery of
68-86%, in tandem with the rates previously reached with external
beam radiotherapy.

While the success rates are encouraging, the exact timing, dose and
number of injections are still under review. One hypothesis is to
combine therapy and initiate a simultaneous IVM with cycles 4 to 6 of
systemic chemotherapy. This approach has the potential benefit of
providing synergistic antineoplastic effects against vitreous seeds.
 Methods
We performed a retrospective review of the charts of patients
diagnosed with retinoblastoma at the Children's Hospital of
Los Angeles (CHLA) from 2014 to 2017.
We included patients who received concurrent intravenous
melphalan and systemic chemoreduction for persistent
seeding.
The Institutional Review Board approved this study.
The treatment protocol for retinoblastoma in CHLA The
injection procedure adheres closely to the protocol described
by Munier et. standardized dose of melphalan of 20-40 μg.
Francis et the dose of IVM was limited to a maximum of 30
μg. in CHLA, 25 μg is the most used dose with modifications
made for the clinical burden of sowing.
 Results
IVM was initiated in all eyes at cycle 4 of their
chemotherapy. Success in eradicating vitreous
seeds was 100%; overall salvage rate was 67%.
Anterior toxicity was observed in 2 out of 6 eyes
and posterior toxicity in 4 out of 6 eyes.
 Results
The demographic and management details of each case are provided in this Table
 Conclusion
The concurrent chemoreduction and IVM
protocol demonstrated a similar efficacy of
globe salvage while sparing children additional
EUAs. However, the increased rates of observed
melphalan related toxicities for concurrent
therapy are concerning. Further clinical
experience is necessary to define the best
initiation time and dosing schedule for IVM.