RETINOBLASTOMA
INTRODUCTION
a neuroblastic tumor most common malignant ocular tumor of childhood and one of the most common pediatric solid tumors. incidence of approximately one in 20,000 diagnosed during the first year of life in familial and bilateral cases and between ages 1 and 3 in sporadic unilateral cases.
INTRODUCTION
The RB gene is a tumor suppressor gene, located on the long arm of chromosome 13 at region 14, that codes for the RB protein. Disease occurs from any mutation that inactivates both normal alleles. 60% of RB : non-hereditary mutations, predominantly unilateral, unifocal tumors 40%: germline mutations, inheritance (positive family history, 10 percent), The typical pattern is of autosomal dominant type, bilateral.
MEDICAL HISTORY
General Medical history : Patient and parents identification Family history Aterm or premature Previous illness history
SPESIFIC MEDICAL HISTORY
Leukocoria (white pupil, cats eye appearance) Strabismus other possible manifestations include vitreous hemorrhage, hyphema, ocular or periocular inflammation , glaucoma, proptosis, and pseudohypopyon Enlargment of lymph node
Intraocular retinoblastoma can exhibit a variety of g rowth patterns . Endophytic growth
a white to cream-colored mass that breaks through the internal limiting membrane. associated with vitreous seeding ( AC form a pseudohypopyon).
Exophytic tumors
usually yellow-white, at subretinal space so that the overlying retinal vessels are commonly increased in caliber and tortuosity associated with subretinal fluid accumulation that can obscure the tumor RB cells have the potential to implant on previously uninvolved retinal tissue and grow creating an impression of multicentricity in previously single primary tumor.
Large tumors of ten show signs of both endophytic and exophytic growth.
DIAGNOSTIC TESTING
USG: detecting intraocular calcification/mass CT/MRI imaging (with contrast) of the orbits and brain to look for extraocular extension and to exclude trilateral retinoblastoma in patients with germline mutations and detect calcification Lumbar puncture with cerebrospinal fluid analysis, bone marrow aspiration, and bone scan are not performed routinely indicated with advanced intraocular disease or with evidence of extraocular disease at presentation.
AAO. CHAPTER 26: Ocular and Periocular Tumors in Childhood
CLASSIFICATION
In the 1950's, the Reese -Ellswor th classification system was developed to predict the prognosis af ter treatment with radiation
AAO. CHAPTER 26: Ocular and Periocular Tumors in Childhood
Ophthalmol Clin North Am. 2005; 18:4153
1990s Reese-Ellswor th classification system no longer accurately reflected prognosis with the newer treatment modalities (chemotherapy). ICRB better predict those with intraocular retinoblastoma who are likely to be cured without the need for enucleation or external -beam radiation treatment
Pediatr Blood Cancer DOI 10.1002/pbc
TREATMENT
The goals of treatment are primarily to save the patients life and secondarily to save the eye. Management of RB is individualized and is based on several considerations - age at presentation, laterality, tumor location, tumor staging, visual prognosis, systemic condition, and the overall prognosis.
TREATMENT
Methods to manage intraocular retinoblastoma : focal (cryotherapy, laser photocoagulation, transpupillary thermotherapy, transcleral thermotherapy, plaque brachytherapy) local (external beam radiotherapy, enucleation ) systemic (chemotherapy).
TREATMENT
Am Fam Physician 2006;73:1039-44
J Clin Invest. 2012;122(2):425434. doi:10.1172/JCI57114
MANAGEMENT
unilateral retinoblastoma : group A is usually treated with cryotherapy or laser photocoagulation; groups B and C receive either chemoreduction or radiotherapy; groups D or E are managed by enucleation
MANAGEMENT
Bilateral retinoblastoma is managed according to the worst eye: group A conditions are treated with laser photocoagulation or cryotherapy group B receives chemoreduction (vincristine and carboplatin) group C receives chemoreduction (vincristine, etoposide, carboplatin); group D receives chemoreduction (vincristine, etoposide, carboplatin) plus subconjunctival carboplatin or enucleation group E is enucleation or if both eyes are equally advanced then chemoreduction (vincristine, etoposide, carboplatin) plus carboplatin and lowdose radiotherapy is attempted.
CHEMOREDUCTION
Chemoreduction: the process of reduction in the tumor volume with chemotherapy, has become an integral part of the current management of retinoblastoma. The commonly used drugs are vincristine, etoposide and carboplatin, for 6 cycles. Standard dose chemoreduction is provided for small and medium sized tumors (ICIOR Group A to C) . High dose chemoreduction, the dose of etoposide and carboplatin is increased. This is indicated in eyes with advanced tumors (ICIOR Group D).
CHEMOREDUCTION
HIGH RISK RETINOBLASTOMA
Systemic metastasis
HIGH RISK RETINOBLASTOMA
Got adjuvant therapy. 6 cycles of a combination of carboplatin, etoposide and vincristine (same protocol with chemoreduction of intraocular RB) extension of RB up to the level of optic nerve transection, scleral infiltration, and extrascleral extension receive high dose chemotherapy for 12 cycles and fractionated orbital external beam radiotherapy.
FOLLOW UP
Periodical Follow up Year 1 every month Year 2 and 3 every 3 months Year 4 until 6 years old age every 6 months
Genetic counseling
Both of the patient's parents and all siblings should also be examined. In about 1% of cases, a parent may be found to have an unsuspected fundus lesion that represents a spontaneously regressed RB
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