Canadian guideline on genetic screening for hereditary renal cell cancers

Reaume, M. Neil; Graham, Gail E.; Tomiak, Eva; Kamel‐Reid, Suzanne; Jewett, Michael A.S.; Bjarnason, Georg A.; Blais, Normand; Care, Melanie; Drachenberg, Darryl; Gedye, Craig; Grant, Ronald; Heng, Daniel Yick Chin; Kapoor, Anil; Kollmannsberger, Christian; Lattouf, Jean‐Baptiste; Maher, Eamonn R.; Pause, Arnim; Ruether, Dean; Soulières, Denis; Tanguay, Simon; Turcotte, Sandra; Violette, Philippe D.; Wood, Lori; Basiuk, Joan; Pautler, Stephen E.

doi:10.5489/cuaj.1496

Cited by 32 publications

(27 citation statements)

References 20 publications

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“…1 Our experience has been similar. For patients with familial clear cell renal cancer, we recommend VHL germline mutation testing for those who have either a family history of VHL or a VHL clinical phenotype (i.e., bilateral renal cysts/tumours, pancreatic neuroendocrine tumours, retinal angiomas, CNS hemangioblastomas, etc.).…”

supporting

confidence: 68%

Evaluation and screening for hereditary renal cell cancers

Linehan

2013

CUAJ

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Reaume and colleagues present a thoughtful guide to genetic screening for inherited renal cancers, including von Hippel Lindau (VHL), hereditary papillary renal cell carcinoma (HPRC), Birt-Hogg-Dubé (BHD), tuberous sclerosis complex (TSC) and hereditary paraganglioma/ pheochromocytoma. 1 Our experience has been similar. For patients with familial clear cell renal cancer, we recommend VHL germline mutation testing for those who have either a family history of VHL or a VHL clinical phenotype (i.e., bilateral renal cysts/tumours, pancreatic neuroendocrine tumours, retinal angiomas, CNS hemangioblastomas, etc.). However, in familial renal clear cell patients without a VHL clinical phenotype, we recommend germline karyotypic analysis (to evaluate for the presence of chromosome 3 translocations) or SDHC germline mutation testing. To date, we have not detected a germline VHL gene mutation in a patient/family with clear cell "kidney only" manifestations.For patients at risk for hereditary papillary renal carcinoma, we recommend germline MET mutation testing starting at age 21. HPRC is, in general, a late onset disease; however, we have identified an early onset MET mutation in which kidney tumours have been detected in patients as young as 19 years old.2 While bilateral multifocal type 1 papillary RCC is common, hereditary papillary renal carcinoma is truly rare; less than 30 families are known to exist. Germline MET mutations are rarely identified in patients with bilateral, multifocal type 1 papillary RCC with no family history.The initial diagnosis of Birt-Hogg-Dubé is most often made by clinical findings. In 90% of our BHD families, an individual was found to have cutaneous fibrofolliculoma, while 84% of patients were found to have pulmonary cysts, and nearly 30% had a history of pneumothorax. Although the BHD-associated kidney cancer pathologic phenotype can be variable (mostly hybrid/oncocytic RCC, chromophobe RCC and clear cell RCC), nearly 60% of tumours are hybrid/ oncocytic renal cell carcinoma. We recommend germline FLCN testing, beginning at age 21, in families with patients with cutaneous fibrofolliculomas, familial pulmonary cysts/ pneumothorax and/or those found to have a hybrid/oncocytic RCC pathology.Hereditary leiomyomatosis and renal cell carcinoma (HLRCC), which is a hereditary cancer syndrome in which affected individuals are at risk for developing cutaneous and uterine leiomyomas and a potentially aggressive form of type 2 papillary kidney cancer, are characterized by a germline mutation of the gene for the TCA cycle enzyme, fumarate hydratase (FH). We recommend germline FH mutation testing (starting at 8 years of age) for patients with cutaneous/uterine leiomyomas and/or type II papillary RCC. FH germline mutation testing is important in all patients at risk for HLRCC, as HLRCC-associated kidney cancer has the potential to be an aggressive, lethal form of type II papillary kidney cancer which can spread when the tumours are very small. It is recommended that patients affected with HLRCC undergo an...

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supporting

confidence: 68%

Evaluation and screening for hereditary renal cell cancers

Linehan

2013

CUAJ

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“…Thirteen of these scenarios were adapted directly from the CUA Consensus Guideline and as such were considered recognized indica- tions for genetic testing for HRCC. 11 Of these scenarios, a family history of a known HRCC-related syndrome was the most commonly recognized indication for genetic testing (79.7%-87.3%). Surprisingly, a minority of respondents recognized a renal mass of unusual histology as an indication for genetic testing (34.2%).…”

Section: Knowledge Of Indicationsmentioning

confidence: 99%

“…The CUA consensus guideline cut-off of ≤45 years is in accord with these findings. 11 To gather a broader consensus from Canadian practitioners, our survey divided age into 3 categories (≤35, 35-65, >65 years). Our hypothesis was that the younger age category would be most clearly identified as an indication for testing.…”

Section: Gaps In Knowledgementioning

confidence: 99%

“…11 The consensus was developed from a multidisciplinary group of medical geneticists, genetic counsellors, medical oncologists, and urologists and was intended to reflect the common practice of specialist practitioners in these areas. By design, our survey attempted to capture the practice patterns from a broader sampling of these same disciplines.…”

Section: Gaps In Knowledgementioning

confidence: 99%

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Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey

Violette

Kamel‐Reid

Graham

et al. 2014

CUAJ

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Introduction: Treatment of hereditary renal cell carcinoma (HRCC) requires a multidisciplinary approach that may involve medical oncologists, geneticists, genetic counsellors, and urologists. The objective of our survey was to obtain current and representative information about the use and perceived importance of genetic testing for HRCC in Canada. Methods: A self-administered web-based survey was provided to Canadian medical oncologists, geneticists, genetic counsellors, and urologists in collaboration with their respective associations. The survey was created through an iterative process in consultation with the Kidney Cancer Research Network of Canada and contained both quantitative and qualitative components. The survey was designed to be exploratory and results were compared across regions. Results: The overall response was low (6.6%). Of the respondents, 42%, 33%, 19%, 5% were genetic counsellors, urologists, medical oncologists and medical geneticists, respectively. Of the respondents, 62.7% described their practice as academic, and 37.3% described it as non-academic. Non-academic respondents tended to refer for genetic counselling less frequently than academic (48.6% vs. 67.2%). Most respondents believed that genetic testing for HRCC was available (82.8%), although 47.7% did not know which tests were available. This observation was consistent across provinces. Testing for Von Hippel-Lindau syndrome was given the highest priority among respondents. Limited provider knowledge, clinical guidelines, institutional funding, access, and poor coordination between disciplines were cited as barriers to testing. Interpretation: There is a need to increase provider knowledge of genetic testing for HRCC. These findings support the development of practice guidelines and national strategies to improve coordination of specialists and access to genetics services. Limitations of the present study include low survey response which did not allow for inferential analysis by geographic region or respondent specialty.

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“…96 In order to improve the ability of Canadian researchers to study kidney cancer, the CKCis was developed to facilitate population-based research. Voluntary patient enrolment is strongly encouraged.…”

Section: Patient and Caregiver Issuesmentioning

confidence: 99%