Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®)–Health Professional Version

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Changes to This Summary (11/21/2017)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Introduction

Added text about a retrospective analysis of 1,235 patients with renal cell cancer (RCC) who underwent genetic testing that revealed that 6.1% of this population had positive genetic test results, 75.5% had negative test results, and 18.4% had a variant of unknown significance (cited Nguyen et al. as reference 12).

Hereditary Leiomyomatosis and Renal Cell Cancer

Added Vocke et al. as reference 8.

Added text to state that exact incidence of RCC in affected individuals remains to be determined, and widely varying estimates have been provided by different groups; the incidence appears to vary on the basis of where the study was performed, the referral patterns of individual groups, and the extent to which individuals were screened for RCC; and in studies from the National Cancer Institute, RCC was identified in approximately 32% of families evaluated.

Birt-Hogg-Dubé Syndrome

Revised text to state that in patients with Birt-Hogg-Dubé syndrome, FLCN pathogenic variants have been identified in all translated exons, and pathogenic intronic variants have been also described (cited Rossing et al. as reference 18).

Added text to state that because magnetic resonance imaging (MRI) spares the patient of radiation exposure, it is reasonable to assume that it may be the preferred mode of imaging over computed tomography (CT) for lifelong surveillance.

Revised text to state that surveillance of at-risk individuals and relatives includes abdominal/pelvic MRI or CT scans and evaluation of renal tumors by urologic surgeons and radiologists experienced in the management of these complicated patients.

Added text to state that better understanding of the biochemical function of the folliculin protein should provide insights in target identification and validation of medical therapy for localized, locally advanced, and metastatic disease.

Hereditary Papillary Renal Carcinoma (HPRC)

Added text to state that an individual with more than one papillary type 1 RCC, a papillary type 1 RCC with incipient lesions of the surrounding parenchyma, or a papillary type 1 RCC diagnosed before age 45 years may be referred for genetic testing for HPRC.

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

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