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Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres.

Agrusa, Jennifer E; Bertuch, Alison A; DiNardo, Courtney D; Plon, Sharon E; Eckstein, Olive S.
Pediatr Blood Cancer; 66(8): e27779, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31050187
Telomere biology disorders predispose affected individuals to specific malignancies and organ fibrosis in tissues sensitive to telomere length (TL) shortening, especially after exposure to chemotherapy and radiation. We report a case of a 17-year-old female with Hodgkin lymphoma who developed severe chemotherapy-related toxicities. She was subsequently found to have peripheral blood lymphocyte TL < 1st percentile and a pathogenic variant in TERT inherited from her father. This case demonstrates that early genetic evaluation of patients who experience greater than expected therapy-related toxicities may be warranted to help guide further decisions regarding therapy, imaging modalities, and lifelong cancer prevention surveillance.
Selo DaSilva