Imaging evaluation of hereditary renal tumors: a pictorial review

Takashi Tanaka, Akira Kawashima, Youhei Marukawa, Takahiro Kitayama, Yoshihisa Masaoka, Katsuhide Kojima, Toshihiro Iguchi, Takao Hiraki, Susumu Kanazawa



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.

ジャーナルJapanese Journal of Radiology
出版ステータスPublished - 7月 2021

ASJC Scopus subject areas

  • 放射線学、核医学およびイメージング


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