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The Genetics Behind Familial Neuroendocrine Tumors

Panelists: Matthew H. Kulke, MD, Dana-Farber; Pamela L. Kunz, MD, Stanford; Rodney F. Pommier, MD, OHSU; James C. Yao, MD, MD Anderson
Published: Friday, Mar 29, 2013
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Neuroendocrine tumors (NETs) are associated with several inherited genetic syndromes. In general, James C. Yao, MD notes, most of these syndromes are associated with pancreatic NETs, including MEN1 (multiple endocrine neoplasia type 1), tuberous sclerosis, and neurofibromatosis. Finally, Yao notes, although Von Hippel–Lindau disease is generally associated with clear cell renal carcinomas this condition also predisposes patients to develop pancreatic NETs.

Matthew H. Kulke, MD, stresses the importance of genetic counseling for patients and family members diagnosed with these genetic syndromes since this counseling may guide screening and tumor detection.

The utilization of genetic mutations to guide treatment selection is still evolving as a strategy in NETs. At this point, Yao notes, in pancreatic NETs, the most common mutations found were in MEN1, ATRX, DAXX, and genes in the mTOR pathway. These mutations may have implications for therapeutic selection, Yao notes; however, validation is still needed to confirm their utility.
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For High-Definition, Click
Neuroendocrine tumors (NETs) are associated with several inherited genetic syndromes. In general, James C. Yao, MD notes, most of these syndromes are associated with pancreatic NETs, including MEN1 (multiple endocrine neoplasia type 1), tuberous sclerosis, and neurofibromatosis. Finally, Yao notes, although Von Hippel–Lindau disease is generally associated with clear cell renal carcinomas this condition also predisposes patients to develop pancreatic NETs.

Matthew H. Kulke, MD, stresses the importance of genetic counseling for patients and family members diagnosed with these genetic syndromes since this counseling may guide screening and tumor detection.

The utilization of genetic mutations to guide treatment selection is still evolving as a strategy in NETs. At this point, Yao notes, in pancreatic NETs, the most common mutations found were in MEN1, ATRX, DAXX, and genes in the mTOR pathway. These mutations may have implications for therapeutic selection, Yao notes; however, validation is still needed to confirm their utility.
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