Schneider Kami Wolfe, Cost Nicholas G, Schultz Kris Ann P, Svihovec Shayna, Suttman Alexandra
Department of Pediatrics, Division of Hematology, Oncology and Bone Marrow Transplantation, University of Colorado, Anschutz Medical Campus, Children's Hospital Colorado, Aurora, CO, USA.
Department of Surgery, Division of Urology, University of Colorado, Anschutz Medical Campus, Children's Hospital Colorado, Aurora, CO, USA.
Transl Androl Urol. 2020 Oct;9(5):2430-2440. doi: 10.21037/tau-20-76.
Multiple genetic conditions predispose to the development of rhabdomyosarcoma. Much of the literature on rhabdomyosarcoma in genetic syndromes does not sub-divide the location or the pathology of the sarcomas. Therefore, there are limited data on genitourinary specific associations with certain genetic syndromes. We summarize, here, the primary differential considerations for rhabdomyosarcoma of the genitourinary system. Primary considerations include pathogenic variation, Li-Fraumeni syndrome, constitutional mismatch repair deficiency, mosaic variegated aneuploidy, neurofibromatosis type 1, Noonan syndrome, other RASopathies, Costello syndrome, and Beckwith-Wiedemann syndrome. Some conditions may present with specific pathological, clinical and/or family history features, but for others, the genitourinary tumor may be the only presenting sign at the time of diagnosis. Genetic evaluation with counseling and/or testing may help identify an underlying tumor predisposition. This manuscript serves as an introduction to germline considerations for children with genitourinary rhabdomyosarcoma.
多种遗传状况易引发横纹肌肉瘤。关于遗传综合征中横纹肌肉瘤的许多文献并未对肉瘤的位置或病理进行细分。因此，关于泌尿生殖系统与某些遗传综合征的特定关联的数据有限。在此，我们总结泌尿生殖系统横纹肌肉瘤的主要鉴别诊断要点。主要考虑因素包括致病性变异、李-弗劳梅尼综合征、遗传性错配修复缺陷、嵌合型杂色非整倍体、1型神经纤维瘤病、努南综合征、其他RAS病、科斯特洛综合征和贝克威思-维德曼综合征。有些情况可能会呈现特定的病理、临床和/或家族史特征，但对于其他情况，泌尿生殖系统肿瘤可能是诊断时唯一的表现症状。进行遗传咨询和/或检测的遗传评估可能有助于识别潜在的肿瘤易感性。本文作为对泌尿生殖系统横纹肌肉瘤患儿种系相关因素的介绍。
