What's new AAPOS 2008 - The Private Eye Clinic

Secondary acute myeloid leukemia after etoposide therapy for retinoblastoma.
Weintraub M, Revel-Vilk S, Charit M, et al
Pediatr Hematol Oncol 2007, Vol 29; 9
This is a case report of a child diagnosed with RB at age 2 months with bilateral RB.
The child was found to have partial mosaicism for R35X mutation of the RB gene. She
was treated with chemotherapy (vincristine, carboplatinum, and etoposide); six cycles.
She required 4 cryotherapy sessions for persistent lesions, with a complete response.
At the age of 2 years; 22 months after the diagnosis of RB and 18 months after the last
dose of etoposide, the patient was diagnosed with secondary M4 acute myeloid
leukemia.
Secondary AML may occur after therapy with topoisomerase II inhibitors
(anthracyclines, epipodophyllotoxins) or with alkylating agents (cyclophosphamide,
procarbazine). It occurs in both adults and children and is usually associated with a
relatively short latency period and with cytogenetic aberrations in chromosome 11Q23,
involving the mixed lineage leukemia (MLL) gene. The most common aberration seen
is t(9;11). The presumed mechanism of topoisomerase-associated t AML is formation
of translocations as a result of defective breakage repair after cleavage of DNA by
topoisomerase II.
From the archives of the AFIP. Pediatric orbit tumors and tumor-like lesions:
Neuroepithelial lesions of the ocular globe and optic nerve.
Chang EM, Specht CS, Schroeder JW.
Radiographics 2007 Jul-Aug; 27(4):1159-86.
This a superb review article. They describe the imaging features and pathologic bases
of ocular and optic nerve neuroepithelial neoplasms in children (RB,
pseudoretinoblastoma: PHPV, Coats disease, Toxocara; Medulloepithelioma, and
Optic Nerve Glioma_ They discuss the differentiating features amongst these masses
and discuss the differential diagnoses. They even discuss the treatment and prognosis
for each.
Trilateral Retinoblastoma.
Antoneli CBG, Ribeiro K, Sakamoto LH, Chojniak MM, Novaes PE, Arias VE.
Pediatr Blood Cancer 2006 Mar 29; [Epub ahead of print]
This is a good review article on Tuberous Sclerosis (TSC), an autosomal dominant
multisystem disorder. It occurs by spontaneous mutation in approximately 70% of
affected. Mutations in the TSC1 gene, on chromosome 9q34, and TSC3 gene, on
chromosome 16913.3, result in a similar phenotypic presentation. TSC1 is more
common in familial cases and results in less severe disease. The pathogenesis of TSC
lies in the expression and function of the gene products, tuberin in TSC2 and hamartin
in TSC1, in tissue. The interaction between these two proteins as been shown to be
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