Page 1 - Canadian guideline on genetic screening for hereditary renal cell cancers

CLINICAL PRACTICE GUIDELINE

Canadian guideline on genetic screening for hereditary renal cell

cancers

M. Neil Reaume, MD FRCPC; Gail E. Graham, MD, MSc, FRCPC, FCCMG; Eva Tomiak, MD, MSc, FRCPC,
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FCCMG; Suzanne Kamel-Reid, PhD; Michael A.S. Jewett, MD, FRCSC; Georg A. Bjarnason, MD, FRCPC;
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Normand Blais, MD, FRCPC; Melanie Care, MSc, CCGC; Darryl Drachenberg, MD, FRCSC; Craig Gedye,
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MBChB, FRCAP, PhD; Ronald Grant, MD, FRCPC; Daniel Y.C. Heng, MD, FRCPC; Anil Kapoor, MD, FRCSC;
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Christian Kollmannsberger, MD, FRCPC; Jean-Baptiste Lattouf, MD, FRCSC; Eamonn R. Maher, MBChB,
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MD, MA, FRCP, FMedSci; Arnim Pause, PhD; Dean Ruether, MD, FRCPC; Denis Soulieres, MD, FRCPC;
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Simon Tanguay, MD, FRCSC; Sandra Turcotte, PhD; Philippe D. Violette, MD; Lori Wood, MD, FRCPC;
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Joan Basiuk, RN; Stephen E. Pautler, MD, FRCSC; for the Kidney Cancer Research Network of Canada
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1 Division of Medical Oncology, The Ottawa Hospital Cancer Centre and the University of Ottawa, existing guidelines or consensus statements was performed. Referral
Ottawa, ON; Eastern Ontario Regional Genetics Program, Children’s Hospital of Eastern Ontario criteria were developed by expert consensus.
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and the University of Ottawa, Ottawa, ON; Molecular Diagnostics, Department of Pathology, The Results: The criteria included characteristics for patients with RCC
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University Health Network, University of Toronto ,Toronto, ON; Division of Urology, Departments (age ≤45 years, bilateral or multifocal tumours, associated medical
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of Surgical Oncology and Surgery, Princess Margaret Cancer Centre and the University Health conditions and non-clear cell histologies with unusual features) and
Network, University of Toronto, Toronto, ON; Division of Medical Oncology/Hematology, Sunnybrook for patients with or without RCC, but a family history of specific
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Odette Cancer Centre, University of Toronto, Toronto, ON; Division of Hematology/Oncology, Centre clinical or genetic diagnoses.
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Hospitalier de l’Université de Montréal, Montreal, QC; Fred A. Litwin Family Centre in Genetic Conclusions: This guideline represents a practical RCC-specific
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Medicine, University Health Network & Mount Sinai Hospital, Toronto, ON; Section of Urology, reference to allow healthcare providers to identify patients who
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Department of Surgery, University of Manitoba, Winnipeg, MB; Ontario Cancer Institute, Princess may have a hereditary RCC syndrome, without extensive knowl-
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Margaret Cancer Centre and the University Health Network, Toronto, ON; Division of Haematology/ edge of each syndrome. RCC survivors and their families can also
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Oncology, Department of Pediatrics, University of Toronto, Toronto, ON; Department of Medical use the document to guide their discussions with healthcare pro-
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Oncology, Tom Baker Cancer Center, and the University of Calgary, Calgary, AB; McMaster Institute viders about their need for referral. The criteria refer to the most
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of Urology, Division of Urology, Department of Surgery, McMaster University, Hamilton, ON; Division common hereditary renal tumour syndromes and do not represent
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of Medical Oncology, British Columbia Cancer Agency-Vancouver Cancer Centre, and the Univeristy a comprehensive or exclusive list. Prospective validation of the
of British Columbia, Vancouver, BC; Department of Surgery, Centre Hospitalier de l’Université de criteria is warranted.
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Montréal, Montreal, QC; Department of Medical Genetics, School of Clinical Medicine, University of
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Cambridge, Cambridge, UK; Department of Biochemistry, McGill University, Montreal, QC; Division
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of Urology, McGill University, Montreal, QC; Department of Chemistry and Biochemistry, Universite Introduction
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de Moncton, Moncton, NB; Division of Urology, Department of Surgery, Western University, London,
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ON; Division of Medical Oncology, Queen Elizabeth II Health Sciences Centre, Halifax, NS; Kidney
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Cancer Research Network of Canada, Toronto, ON; Division of Urology, Department of Surgery and Renal cell carcinoma (RCC) is the eighth most common-
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Division of Surgical Oncology, Department of Oncology, Western University, London, ON ly diagnosed cancer in Canada. In 2012 there were an
estimated 5600 new cases and 1700 deaths from RCC. In
practice, RCC is a heterogeneous group of histologically
See related article on page 324. distinct epithelial cancers originating in the renal parenchy-
ma, including clear cell carcinoma (70%), papillary (15%),
chromophobe (5%), collecting duct cancers, angiomyoli-
Cite as: Can Urol Assoc J 2013;7(9-10):319-23. http://dx.doi.org/10.5489/cuaj.1496 poma and oncocytoma. At present, most RCCs appear to
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Published online October 7, 2013. be sporadic and 5% to 8% hereditary. There are a number
of well-defined hereditary RCC syndromes, each with their
Abstract own specific clinical and molecular phenotypes (Table 1).
The American Society of Clinical Oncology recognizes
Background: Hereditary renal cell cancer (RCC) is an ideal model the established role of germline testing of individuals at
for germline genetic testing. We propose a guideline of hereditary risk for hereditary cancers, including, but not limited to,
RCC specific criteria to suggest referral for genetic assessment. cancers of the breast, ovary and colon. Germline genetic
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Methods: A review of the literature and stakeholder resources for
testing is performed on non-tumour specimens (e.g., blood
CUAJ • September-October 2013 • Volume 7, Issues 9-10 319
© 2013 Canadian Urological Association