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- Title
Retinoblastoma in twins: Risk assessment of genotypic variants.
- Authors
Raval, Vishal; DeBenedictis, Meghan; Bowen, Randy; Soto, Hansell; Davanzo, Jacquelyn; Singh, Arun
- Abstract
<bold>Purpose: </bold>To describe methods of risk assessment in twins with retinoblastoma (RB).<bold>Methods: </bold>A case series of four RB probands with a twin sibling. Family status, clinical presentation, and RB1 germline status-based risk assessment were analyzed.<bold>Results: </bold>Two pairs had a positive family history (unilateral and bilateral RB in one of the parents (#1 and #2, respectively) and two pairs (#3 and #4) were sporadic. One of the familial twins (#1) had a high risk (90%) of manifesting RB in the twin. The other case (#2) with an absent RB1 germline mutation in the twin had a 0% risk of developing RB. Among sporadic cases of twins (#3), genetic testing did not identify a germline mutation (tumor sample unavailable) in the proband which downgraded the risk of germline mutation from 15% to <1%. The twin never developed RB (5 years of age at last follow-up). Pathogenic mosaicism for germline RB1 mutation (c.1723C>T) could be identified (tumor tissue available) in the proband (# 4). Identical germline mutation (and RB tumor) was also noted in the twin. In each case, there was concordance between the assessed risk and manifestation of RB.<bold>Conclusion: </bold>Assessment of risk of RB in a twin presents with a unique challenge. Depending upon the genotype variant, the risk of developing RB can vary from 0% to 90%. In addition to family history, clinical manifestation in the proband, zygosity status, and RB1 germline status are critical in formulating risk-appropriate surveillance guidelines.
- Subjects
TWINS; RISK assessment; RETINOBLASTOMA; GENOTYPES; GENETIC testing
- Publication
Indian Journal of Ophthalmology, 2021, Vol 68, Issue 5, p1230
- ISSN
0301-4738
- Publication type
journal article
- DOI
10.4103/ijo.IJO_2811_20