Table 5.
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 |
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