دورية أكاديمية
Multiple endocrine neoplasia type 2: A review.
| العنوان: | Multiple endocrine neoplasia type 2: A review. |
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| المؤلفون: | Mathiesen JS; Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark. Electronic address: jes_mathiesen@yahoo.dk., Effraimidis G; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Rasmussen ÅK; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Hoejberg L; Department of Oncology, Odense University Hospital, Odense, Denmark., Bastholt L; Department of Oncology, Odense University Hospital, Odense, Denmark., Godballe C; Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Oturai P; Department of Clinical Physiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Feldt-Rasmussen U; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Institute of Clinical Medicine, Faculty of Health Sciences, Copenhagen University, Copenhagen, Denmark. |
| المصدر: | Seminars in cancer biology [Semin Cancer Biol] 2022 Feb; Vol. 79, pp. 163-179. Date of Electronic Publication: 2021 Apr 01. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Academic Press Country of Publication: England NLM ID: 9010218 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-3650 (Electronic) Linking ISSN: 1044579X NLM ISO Abbreviation: Semin Cancer Biol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Academic Press Original Publication: Philadelphia, PA, USA : Saunders Scientific Publications, W.B. Saunders Co., c1990- |
| مواضيع طبية MeSH: | Multiple Endocrine Neoplasia Type 2a*/genetics , Multiple Endocrine Neoplasia Type 2a*/pathology , Multiple Endocrine Neoplasia Type 2a*/therapy , Multiple Endocrine Neoplasia Type 2b*/genetics , Multiple Endocrine Neoplasia Type 2b*/pathology , Multiple Endocrine Neoplasia Type 2b*/therapy, Proto-Oncogene Proteins c-ret/*genetics, Carcinoma, Neuroendocrine/genetics ; Carcinoma, Neuroendocrine/pathology ; Digestive System Neoplasms/genetics ; Digestive System Neoplasms/pathology ; Ganglioneuroma/genetics ; Ganglioneuroma/pathology ; Genetic Counseling ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Genotype ; Germ-Line Mutation/genetics ; Humans ; Hyperparathyroidism/genetics ; Hyperparathyroidism/pathology ; Prognosis ; Risk Factors ; Thyroid Neoplasms/genetics ; Thyroid Neoplasms/pathology ; Thyroidectomy |
| مستخلص: | Multiple endocrine neoplasias are rare hereditary syndromes some of them with malignant potential. Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary cancer syndrome due to germline variants in the REarranged during Transfection (RET) proto-oncogene. There are two distinct clinical entities: MEN 2A and MEN 2B. MEN 2A is associated with medullary thyroid carcinoma (MTC), phaeochromocytoma, primary hyperparathyroidism, cutaneous lichen amyloidosis and Hirschprung's disease and MEN 2B with MTC, phaeochromocytoma, ganglioneuromatosis of the aerodigestive tract, musculoskeletal and ophthalmologic abnormalities. Germline RET variants causing MEN 2 result in gain-of-function; since the discovery of the genetic variants a thorough search for genotype-phenotype associations began in order to understand the high variability both between families and within family members. These studies have successfully led to improved risk classification of prognosis in relation to the genotype, thus improving the management of the patients by thorough genetic counseling. The present review summarizes the recent developments in the knowledge of these hereditary syndromes as well as the impact on clinical management, including genetic counseling, of both individual patients and families. It furthermore points to future directions of research for better clarification of timing of treatments of the various manifestations of the syndromes in order to improve survival and morbidity in these patients. (Copyright © 2021 Elsevier Ltd. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Genotype-phenotype; MEN 2; Medullary thyroid carcinoma; Prognosis; Prophylactic thyroidectomy; Risk stratification |
| المشرفين على المادة: | EC 2.7.10.1 (Proto-Oncogene Proteins c-ret) EC 2.7.10.1 (RET protein, human) |
| SCR Disease Name: | Ganglioneuromatosis of the Alimentary Tract; Thyroid cancer, medullary |
| تواريخ الأحداث: | Date Created: 20210404 Date Completed: 20220308 Latest Revision: 20220308 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.semcancer.2021.03.035 |
| PMID: | 33812987 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1096-3650 |
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| DOI: | 10.1016/j.semcancer.2021.03.035 |