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Genetic testing in the clinical care of patients with pheochromocytoma and paraganglioma

Rana, Huma Q.a; Rainville, Irene R.a; Vaidya, Anandb

Current Opinion in Endocrinology, Diabetes and Obesity: June 2014 - Volume 21 - Issue 3 - p 166–176
doi: 10.1097/MED.0000000000000059

Purpose of review Paraganglioma and pheochromocytoma (PGL/PCC) are tumours of neural crest origin that can present along a clinical spectrum ranging from apparently sporadic, isolated tumours to a more complex phenotype of one or multiple tumours in the context of other clinical features and family history suggestive of a defined hereditary syndrome. Genetic testing for hereditary PGL/PCC can help to confirm a genetic diagnosis for sporadic and syndromic cases. Informative genetic testing serves to clarify future risks for the patient and family members.

Recent findings Genetic discovery in the last decade has identified new PGL/PCC susceptibility loci. We summarize a contemporary approach adopted in our programme for genetic evaluation, testing and prospective management involving biochemical monitoring and imaging for hereditary PGL/PCC. A clinical vignette is presented to illustrate our practice.

Summary Current estimates that up to 40% of PGL/PCC are associated with germline mutations have implications for genetic testing recommendations. Prospective management of patients with defined hereditary susceptibility is based on established guidelines for well characterized syndromes. Management of tumour risk for rare syndromes, newly defined genetic associations and undefined genetic susceptibility in the setting of significant family history presents a challenge. Sustained discovery of new PGL/PCC genes underscores the need for a practice of continued genetic evaluation for patients with uninformative results. All patients with PGL/PCC should undergo genetic testing to identify potential hereditary tumour susceptibility.

aCenter for Cancer Genetics and Prevention, Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School

bCenter for Adrenal Disorders, Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA

Correspondence to Huma Q. Rana, MD, Cancer Genetics and Prevention, Dana Farber Cancer Institute, Harvard Medical School, 450 Brookline Avenue, Boston, MA 02115, USA. Tel: +1 617 632 6292; fax: +1 617 632 4088; e-mail:

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins