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Table 5 Distribution of patients with criteria for hereditary Rb at diagnosis

From: Retinoblastoma in a pediatric oncology reference center in Southern Brazil

Criteria for hereditary Rb Number Percent
Total of families with at least one criterion for hereditary Rba 50 36.2
Only one criterion present:
 Bilateralb 39 75.0
 Trilateralc 3 5.8
Family history of Rbac 3 5.8
Two criteria present:
 Bilateral and family historyc 7 13.4
Samples collected for mutation analysis based on criteriad 25 48.1
RB1 mutation identifiede 13 52.0
 Patients with secondary malignant neoplasmf 2 15.4
  1. aTwo families with two patients with Rb; bThree cases of unilateral Rb with family history of Rb (all diagnosed before 12 months of age); cTotal cases with family history of Rb = 10; dTotal patients who collected samples for molecular genetic testing = 32 (22.9 %); RB1 mutation was detected in one patient who had no criteria for hereditary Rb at diagnosis (unilateral and unifocal); normal results (n = 12); no results available (n = 6). This percentage (48.1 %) refers to the proportion 25/52; eThis percentage (52.0 %) refers to the proportion 13/25; fThis percentage (15.4 %) refers to the proportion 2/13