Retinoblastoma in a pediatric oncology reference center in Southern Brazil

BMC Pediatrics

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

Criteria for hereditary Rb	Number	Percent
Total of families with at least one criterion for hereditary Rb^a	50	36.2
Only one criterion present:
Bilateral^b	39	75.0
Trilateral^c	3	5.8
Family history of Rb^ac	3	5.8
Two criteria present:
Bilateral and family history^c	7	13.4
Samples collected for mutation analysis based on criteria^d	25	48.1
RB1 mutation identified^e	13	52.0
Patients with secondary malignant neoplasm^f	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

ISSN: 1471-2431