Endocrine Abstracts

Background: Multiple endocrine neoplasia type 2 associated medullary thyroid carcinoma (MTC) is driven by a strong genotype-phenotype correlation, the risk of aggressiveness being defined by the germline RET pathogenic variant (American Thyroid Association (ATA) guidelines). Based on this classification, the germline c.2370G>C, p.Leu790Phe (L790F) RET variant is considered to be of moderate risk of aggressive MTC, while the germline c.2753T>C, p.Met918Thr (M9...

Context: Postzygotic activating mutations in GNAS are responsive for fibrous dysplasia (FD) and McCune-Albright Syndrome (MAS). MAS is a rare disease associating fibrous dysplasia, to skin pigmentation and endocrine disorders. The classic genetic non-invasive methods are insufficiently sensitive to detect GNAS mutation, due to a low level of mosaicism in blood. Early diagnostic should allow a follow-up and a therapeutic choice adapted to the MAS context in or...

Context: Mosaicism is a feature of several inherited tumor syndromes but is rarely systematically looked for in routine. MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors affecting parathyroids, pancreas, and anterior pituitary most of the time, due to inactivating mutations in the MEN1 gene. Few cases of mosaicism in Multiple Endocrine Neoplasia type 1 (MEN1) have been described. MEN1 mosaicism is probably under-diag...

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene. MEN1 is characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. MEN1 presents a broad spectrum of variants, including large deletions, and truncating, missense, or splicing point mutations. The genotype-phenotype relationship r...