دورية أكاديمية
Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study.
| العنوان: | Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study. |
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| المؤلفون: | Høxbroe Michaelsen S; Department of ORL, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Ornstrup MJ; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Poulsen MM; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Bennedbaek FN; Department of Endocrinology, Herlev and Gentofte University Hospital, Herlev, Denmark., Gaustadnes M; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Darling P; Department of ORL, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Vestergaard P; Department of Clinical Medicine and Endocrinology, Aalborg University Hospital, Aalborg, Denmark.; Steno Diabetes Center North Jutland, Aalborg University Hospital, Aalborg, Denmark., 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. |
| المصدر: | Journal of surgical oncology [J Surg Oncol] 2019 May; Vol. 119 (6), pp. 687-693. Date of Electronic Publication: 2019 Jan 15. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0222643 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9098 (Electronic) Linking ISSN: 00224790 NLM ISO Abbreviation: J Surg Oncol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2005-> : Hoboken, NJ : Wiley-Liss Original Publication: New York, Plenum. |
| مواضيع طبية MeSH: | Heterozygote* , Mutation*, Genetic Predisposition to Disease/*epidemiology , Proto-Oncogene Proteins c-ret/*genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Medullary/genetics ; Child ; Cohort Studies ; Denmark/epidemiology ; Follow-Up Studies ; Humans ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a/genetics ; Pheochromocytoma/genetics ; Thyroid Neoplasms/genetics ; Young Adult |
| مستخلص: | Background and Objectives: Recently, a comprehensive study presented evidence that a long-disputed REarranged during Transfection (RET) variant, RET Y791F, should be classified as nonpathogenic. In spite of this, several subsequently published papers, including the revised American Thyroid Association guidelines for medullary thyroid carcinoma, refer to the variant as pathogenic. This study presents data from a unique national Danish cohort of RET Y791F carriers who have been followed by watchful waiting instead of being subjected to early thyroidectomy, to determine if any carrier shows evidence of multiple endocrine neoplasia 2A (MEN2A) at long-term follow-up. Methods: A national cohort of all patients tested for RET mutations in Denmark from September 1994 to October 2017 was searched for carriers of RET Y791F. Medical records and laboratory reports of carriers were reviewed for signs of MEN2A at latest follow-up (medullary thyroid carcinoma, primary hyperparathyroidism, pheochromocytoma, cutaneous lichen amyloidosis, or Hirschsprung's disease). Results: In total, twenty RET Y791F-carriers were identified, none of whom showed any evidence of MEN2A, despite an age range from 7 to 87 years. Conclusions: Our national cohort study of all Danish RET Y791F carriers substantiates the claim that the RET Y791F variant is nonpathogenic. (© 2019 Wiley Periodicals, Inc.) |
| فهرسة مساهمة: | Keywords: carcinoma; multiple endocrine neoplasias; prophylactic surgical procedures; thyroid |
| المشرفين على المادة: | EC 2.7.10.1 (Proto-Oncogene Proteins c-ret) |
| تواريخ الأحداث: | Date Created: 20190116 Date Completed: 20190417 Latest Revision: 20190417 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1002/jso.25371 |
| PMID: | 30644554 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1096-9098 |
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| DOI: | 10.1002/jso.25371 |