A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma.
A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma.
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DOI：
10.1097/mph.0000000000002270
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发表时间：
2022-03-01
期刊：
影响因子：
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通讯作者：
Kadan-Lottick NS
中科院分区：
文献类型：
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作者：
Rodwin RL;Janardan SK;Hofstatter EW;Kadan-Lottick NS
儿童癌症幸存者有患后续肿瘤的风险。我们描述的临床表现和基因检测的29岁妇女诊断为嗜铬细胞瘤22年后治疗的儿童胚胎性横纹肌肉瘤的膀胱。癌症易感性的基因检测显示，BRCA2中存在致病性变异，MSH2中存在不确定意义的变异。在GJB2中也发现了与耳聋相关的致病变异。本文报道了一例儿童胚胎性横纹肌肉瘤后发生的新型肿瘤，并讨论了遗传癌症易感性对该病例的潜在影响以及基因检测的临床意义。
Childhood cancer survivors are at risk for subsequent neoplasms. We describe the clinical presentation and genetic testing of a 29-year-old woman diagnosed with a pheochromocytoma 22 years post-treatment for childhood embryonal rhabdomyosarcoma of the bladder. Genetic testing for cancer predisposition revealed a pathogenic variant in BRCA2 and a variant of uncertain significance in MSH2. Pathogenic variants associated with deafness were also identified in GJB2. This article reports a novel subsequent neoplasm following childhood embryonal rhabdomyosarcoma, and discusses the potential contribution of genetic cancer predisposition to this case as well as the clinical implications of genetic testing.