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MEN2 phenotype in a family with germline heterozygous rare RET K666N variant.
Endocrinol Diabetes Metab Case Rep
July 2024
Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado, Aurora, Colorado, USA.
Article Synopsis
- MEN2 is a hereditary cancer syndrome linked to mutations in the RET proto-oncogene, with MEN2A being the most common form, involving risks for medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism.
- The specific RET variant K666N is rare, and most associated patients generally present with a mild form of medullary thyroid cancer; however, one case showed more severe symptoms including pheochromocytoma.
- A reported case involves a young proband who developed severe complications post-surgery, revealing a RET K666N variant alongside pheochromocytoma, medullary thyroid cancer, and primary hyperparathyroidism, indicating it may have low penetrance in MEN
[30 years of prophylactic thyroidectomy for hereditary medullary thyroid cancer : A milestone in translational medicine].
Chirurgie (Heidelb)
August 2024
Klinik für Viszeral‑, Gefäss- und Endokrine Chirurgie, Universitätsmedizin Halle, Ernst Grube Str. 40, 06097, Halle (Saale), Deutschland.
Article Synopsis
- * The discovery of RET mutations led to the recommendation of preventive thyroid surgery for individuals with the mutation, changing how doctors approach treatment and risk management of MTC.
- * Monitoring calcitonin levels has become essential in assessing cancer risk and timing of surgery, making hereditary MTC more manageable and showing progress in medical research that benefits patients.
Familial states of primary hyperparathyroidism: an update.
J Endocrinol Invest
September 2024
Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Background: Familial primary hyperparathyroidism (PHPT) includes syndromic and non-syndromic disorders. The former are characterized by the occurrence of PHPT in association with extra-parathyroid manifestations and includes multiple endocrine neoplasia (MEN) types 1, 2, and 4 syndromes, and hyperparathyroidism-jaw tumor (HPT-JT). The latter consists of familial hypocalciuric hypercalcemia (FHH) types 1, 2 and 3, neonatal severe primary hyperparathyroidism (NSHPT), and familial isolated primary hyperparathyroidism (FIHP).
View Article and Find Full Text PDFRET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.
Life (Basel)
June 2023
Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant (AD) condition with very high penetrance and expressivity. It is characterized into three clinical entities recognized as MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). In both MEN2A and MEN2B, there is a manifestation of multicentric tumor formation in the major organs such as the thyroid, parathyroid, and adrenal glands where the proto-oncogene is expressed.
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