Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
复制标题
具有 T 细胞白血病远史的青少年患者共济失调毛细血管扩张症的回顾性诊断。
DOI：
10.1097/mph.0000000000001672
复制
发表时间：
2021
期刊：
影响因子：
--
通讯作者：
Wechsler,DanielS
中科院分区：
文献类型：
--
作者：
Sze,Sei-GyungK;Lederman,HowardM;Crawford,ThomasO;Wangler,MichaelF;Lewis,AndreaM;Kastan,MichaelB;Dibra,HarpreetK;Taylor,AlexanderMR;Wechsler,DanielS
共济失调-毛细血管扩张症（AT）是一种罕见的常染色体隐性遗传疾病，其特征是进行性小脑变性，通常在儿童早期诊断。AT与恶性肿瘤的易感性相关，特别是儿童和成年早期的淋巴肿瘤。一名神经系统症状轻微的青春期女孩在完成T细胞急性淋巴细胞白血病治疗8年后被诊断为AT，此前她的母亲被诊断为ATM突变的乳腺癌。我们强调识别T细胞急性淋巴细胞白血病中ATM突变的重要性，赞赏AT的表型异质性，并确定AT患者的最佳癌症筛查。
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder characterized by progressive cerebellar degeneration that is typically diagnosed in early childhood. AT is associated with a predisposition to malignancies, particularly lymphoid tumors in childhood and early adulthood. An adolescent girl with minimal neurologic symptoms was diagnosed with AT 8 years after completing therapy for T-cell acute lymphoblastic leukemia, following a diagnosis of ATM-mutated breast cancer in her mother. We highlight the importance of recognizing ATM mutations in T-cell acute lymphoblastic leukemia, appreciating the phenotypic heterogeneity of AT, and defining optimal cancer screening in AT patients.