Arroyo YME, Pérez PJF, González-Huerta LM, Cuevas-Covarrubias SA

Language: Spanish
References: 21
Page: 41-43
PDF size: 51.08 Kb.

ABSTRACT

Retinoblastoma (Rb) is the most common malignant tumor of the developing retina in children and occurs between 1 in 13,500 and 1 in 25,000 new born. In general, diagnosis is done at age of 12 month in bilateral cases and at age of 18 months in unilateral cases. Leukocoria, strabismus, unilateral mydriasis and heterochromia are the presenting clinical characteristics. Sixty percent of cases are nonhereditary and unilateral, 15 percent are hereditary and unilateral and 25 percent are hereditary and bilateral. A model suggests two mutational events for tumor generation. The first one can occur in germinal cells of the parents or can be somatically acquired and the second one occurs in somatic cells and leads to Rb. Mutational events correspond to deletion, duplication, or point mutation in the Rb locus at chromosome 13 (13q14). There are few cases of monozygotic twins with retinoblastoma. In the present study we analyzed monozygotic twins with retinoblastoma in which only one of them was affected. Monozygous state was confirmed through DNA analysis. We concluded that mutation in the twin with Rb occurred in a post-zygotic event.

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