Title
Authors
Klaus-Martin Schulte, Andreas Machens, Laura Fugazzola, Alan McGregor, Salvador Diaz-Cano, Louise Izatt, Simon Aylwin, Nadia Talat, Paolo Beck-Peccoz, Henning Dralle
Publication date
2010/9
Journal name
The Journal of Clinical Endocrinology & Metabolism
Volume
95
Issue
9
Pages
E92-E97
Publisher
Endocrine Society
Description
Results: S891A mutation accounts for up to 5% of all patients to date reported with RET mutations
and 16% of those hitherto reported with intracellular mutations. S891A mutation caused medullary
thyroid cancer (MTC) in 69.4%, pheochromocytoma in 2.8%, and parathyroid hyperplasia in
8.3% of the 36 patients of this case series and in 63.5, 4.1, and 4.1%, respectively, for the entire
groups of 74 patients. The youngest age of onset for MTC in this group was 17 yr (median, 46
yr; range, 1780 yr), for pheochromocytoma 46 yr (median, 46 yr), and for parathyroid ...
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The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A
KM Schulte, A Machens, L Fugazzola, A McGregor… - The Journal of Clinical Endocrinology & Metabolism, 2010
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