Department of Pediatrics, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas.
Texas Children's Cancer and Hematology Centers, Texas Children's Hospital, Houston, Texas.
Pediatr Blood Cancer. 2019 Aug;66(8):e27779. doi: 10.1002/pbc.27779. Epub 2019 May 2.
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.
端粒生物学紊乱使受影响的个体易患特定的恶性肿瘤和组织纤维化，这些组织对端粒长度 (TL) 缩短敏感，尤其是在接触化疗和辐射后。我们报告了一例 17 岁女性霍奇金淋巴瘤患者，她在化疗后出现严重的与治疗相关的毒性。随后发现她的外周血淋巴细胞 TL < 第 1 百分位，并且她从父亲那里遗传了 TERT 的致病性变异。该病例表明，对于经历大于预期的治疗相关毒性的患者，早期进行遗传评估可能是必要的，以帮助指导进一步的治疗、成像方式和终身癌症预防监测决策。
