ASCO GU 2020: Report from the Consensus Panel Meeting - Genetic Risk Assessment for Hereditary Renal Cell Carcinoma

San Francisco, California (UroToday.com)  Numerous familial genetic syndromes are known to be associated with renal cell carcinoma (RCC). While the AUA recently released guidelines stating that patients younger than 46 diagnosed with RCC should definitely be referred for germline testing, management of patients with RCC and other risk factors for germline mutations such as multifocality, variant histology, family history, advanced disease, or syndrome-associated clinical findings remains unclear.

During the Rapid Abstract Session C on Renal Cell Carinoma at the 2020 American Society of Clinical Oncology Genitourinary Cancers Symposium (ASCO GU), Dr. Michael Daneshvar presented results of a consensus conference of experts in renal cell carcinoma on this topic.

The conference was held on September 12, 2019 in Philadelphia, Pennsylvania. It was attended by 26 members, 11 urologists (43%), six medical oncologists (23%), three genetic counselors (13%), two clinical geneticists (7%), and one patient advocate (3%). A modified Delphi methodology was used prior to the meeting to develop a list of 52 statements to be addressed at the meeting. At the conference, participants anonymously provided their level of agreement to each statement and then the statements were discussed. A cutoff of 85% agreement was used to determine consensus according to the National Comprehensive Cancer Network guidelines.

The consensus was reached on 30 of the 52 statements. While not all of the statements were exhaustively presented, Dr. Daneshvar highlighted the following statements on which consensus was reached:

  • Patients with any of the following should be referred for germline testing
    • Syndromic manifestations of hereditary RCC
    • Bilateral or multifocal tumors
    • Histologic subtypes suggestive of hereditary RCC
    • A personal history of RCC and either a single first-degree relative of multiple second-degree relatives with RCC
    • Isolated paraganglioma or pheochromocytoma
    • Uveal melanoma
    • Endolymphatic sac tumor
    • Bilateral or multifocal angiomyolipoma
  • Physicians with expertise in hereditary kidney cancer syndromes can offer pre-test counseling in patients suspected of having hereditary kidney cancer
  • When testing for hereditary syndromes, multi-gene testing is recommended over single-gene panels
  • If somatic profiling of a patient’s tumor reveals an alteration in a gene associated with hereditary RCC other than VHL and that patient is subsequently offered germline testing, germline testing should consist of a single gene rather than a multi-gene assay

While there are still some ambiguities in these guidelines, namely the recommendation for testing for any “syndromic manifestation of hereditary RCC” and “histologic subtypes suggestive of hereditary RCC”, these ambiguities may be clarified in the final publication. These guidelines otherwise offer very helpful guidance to practitioners looking to expand genetic testing beyond patients captured by the AUA guidelines. They also help protect physicians who are capable of providing basic genetic counseling in this time of very limited access to genetic counselors. One hopes that similar guidelines will be released on a regular basis given the very rapid developments in this field.

genetic risk assessment for hereditary rcc report

Presented by: Michael Daneshvar, MD, Urology Resident, SUNY Upstate Medical Center, Syracuse, New York

Written by: Marshall Strother, MD, Society for Urologic Oncology Fellow, Division of Urologic Oncology, Fox Chase Cancer Center, Philadelphia PA at the 2020 Genitourinary Cancers Symposium – Februrary 13-16, San Francisco, California, Twitter: @mcstroth at the 2020 Genitourinary Cancers Symposium, ASCO GU #GU20, February 13-15, 2020, San Francisco, California