Imaging evaluation of hereditary renal tumors: a pictorial review
Imaging evaluation of hereditary renal tumors: a pictorial review
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DOI：
10.1007/s11604-021-01109-5
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发表时间：
2021-03
影响因子：
2.1
通讯作者：
Takashi Tanaka;A. Kawashima;Y. Marukawa;Takahiro Kitayama;Y. Masaoka;K. Kojima;T. Iguchi;T. Hiraki;S. Kanazawa
中科院分区：
文献类型：
--
作者：
Takashi Tanaka;A. Kawashima;Y. Marukawa;Takahiro Kitayama;Y. Masaoka;K. Kojima;T. Iguchi;T. Hiraki;S. Kanazawa
已有10多个遗传性肾肿瘤综合征(HRTS)和相关的胚系突变被报道，HRTS相关的肾脏和肾外表现包括良性肿瘤和恶性肿瘤。放射科医师在发现有或无肾外发现的孤立或多发性肾肿块方面发挥了重要作用，并可能增加肾细胞癌遗传易感性的可能性，为在发生潜在的致命性肾和肾外肿瘤之前对患者及其近亲进行进一步的筛查、干预和监测提供指导。与von Hippel-Lindau病相关的肾细胞癌(RCC)生长缓慢，而与HRTS相关的RCC，如遗传性子宫肌瘤病和肾细胞癌综合征，侵袭性很强。因此，放射科医生需要熟悉HRTS肾脏和肾外表现的临床和影像表现。本文从放射科医生的角度回顾了临床和影像表现，以评估已确定的HRTS患者，以促进患者管理的临床决策过程。
More than 10 hereditary renal tumor syndromes (HRTSs) and related germline mutations have been reported with HRTS-associated renal and extrarenal manifestations with benign and malignant tumors. Radiologists play an important role in detecting solitary or multiple renal masses with or without extrarenal findings on imaging and may raise the possibility of an inherited predisposition to renal cell carcinoma, providing direction for further screening, intervention and surveillance of the patients and their close family members before the development of potentially lethal renal and extrarenal tumors. Renal cell carcinomas (RCCs) associated with von Hippel–Lindau disease are typically slow growing while RCCs associated with HRTSs, such as hereditary leiomyomatosis and renal cell carcinoma syndrome, are highly aggressive. Therefore, radiologists need to be familiar with clinical and imaging findings of renal and extrarenal manifestations of HRTSs. This article reviews clinical and imaging findings for the evaluation of patients with well-established HRTSs from a radiologist’s perspective to facilitate the clinical decision-making process for patient management.