AI Article Synopsis
- - A female patient with bilateral retinoblastoma (RB) developed two subsequent malignant neoplasms (SMNs) in under ten years due to a specific genetic variant (a pathogenic nonsense variant) that significantly raises the risk for RB survivors.
- - Literature review shows a wide variety in types of SMNs and ages of occurrence in RB patients, with this case adding to the limited examples of survivors having two SMNs, including one being Ewing sarcoma (EWS).
- - The findings emphasize the need for comprehensive clinical and genetic management strategies for RB patients, underscoring the importance of a multidisciplinary approach and genetic diagnosis in their care.
Article Abstract
Variants in the gene are associated with retinoblastoma (RB) development, and their presence in germline cells considerably increases the risk of subsequent malignant neoplasms (SMNs) in RB survivors. We report a female patient with bilateral RB who developed two SMNs in less than ten years, with a de novo pathogenic nonsense variant in [NM_000321.3:c.306T>A, p.(Cys102*)] in heterozygosity. The updated literature review of similar cases of SMN in patients with a previous diagnosis of RB reveals a wide range in both the type of subsequent malignancy and the age at which these SMNs develop. In addition, we identified only three cases with two SMNs following RB diagnosis, with at least one of these being an EWS. This case broadens the clinical and genetic landscape of RB, demonstrates the importance of a multidisciplinary approach in these patients, and highlights genetic diagnosis as a mandatory feature for management.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11594721 | PMC |
| http://dx.doi.org/10.3390/ijms252212338 | DOI Listing |
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