Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma.

Freifeld Y1, Ananthakrishnan L2, Margulis V3.

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Abstract

PURPOSE OF REVIEW:

To summarize the literature providing the basic genetic and clinical characteristics of renal cell carcinoma (RCC) familial syndromes, as well as to describe associated unique imaging characteristics and appropriate imaging protocols.

RECENT FINDINGS:

At least 5-8% of RCC cases are associated with hereditary syndromes. These patients are prone to developing multiple renal tumors or associated malignancies and require more intense diagnostic and follow-up imaging studies. New familial types of RCC are continuously discovered, vis-à-vis recent characterization of BAP1 associated RCC and MITF associated cancer syndrome. With increasing number of recognizable familial syndromes associated with RCC, physicians should be familiar with the different syndromes, the associated risks of malignancy and appropriate imaging protocols.