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Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

التفاصيل البيبلوغرافية
العنوان: Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.
المؤلفون: Mathiesen JS; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Nielsen SG; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Rasmussen ÅK; Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark., Kiss K; Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Hermann AP; Department of Endocrinology, Odense University Hospital, Odense, Denmark., Nielsen MF; Department of Endocrinology, Odense University Hospital, Odense, Denmark., Larsen SR; Department of Pathology, Odense University Hospital, Odense, Denmark., Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Frederiksen AL; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Godballe C; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.
المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Apr 28; Vol. 11, pp. 251. Date of Electronic Publication: 2020 Apr 28 (Print Publication: 2020).
نوع المنشور: Case Reports; Comparative Study; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Lausanne : Frontiers Research Foundation]
مواضيع طبية MeSH: Germ-Line Mutation*, Carcinoma, Neuroendocrine/*pathology , Proto-Oncogene Proteins c-ret/*genetics , Thyroid Neoplasms/*pathology, Adolescent ; Aged ; Carcinoma, Neuroendocrine/blood ; Carcinoma, Neuroendocrine/genetics ; Female ; Humans ; Prognosis ; Retrospective Studies ; Thyroid Neoplasms/blood ; Thyroid Neoplasms/genetics
مستخلص: Background: Previous studies have suggested that the variability in age of onset and aggressiveness of medullary thyroid carcinoma (MTC) in patients with multiple endocrine neoplasia type 2A (MEN 2A) carrying the same RE arranged during T ransfection ( RET ) mutation may be caused by additional RET germline variants or somatic variants. Methods: This study was a retrospective case comparison study of all MEN 2A index patients ( n = 2) with the RET L790F germline mutation in Denmark. Whole blood and MTC tissue were analyzed for RET germline variants and other somatic variants (>500), respectively. Results: Patient 1 presented with MTC (T1aN1bM0) at age 14 years, while patient 2 presented with MTC (T1bN0M0) at age 70 years. No germline RET germline variants nor other variants were found to explain this MTC variability. Conclusions: We could not confirm the previously reported finding of a somatic RET variant as likely responsible for the early onset and aggressiveness of MTC in a RET germline mutation carrier. Also, we found no RET germline variants that could explain the MTC variability among our index patients. We did, however, identify a somatic FLT3 R387Q variant with an unknown potential as genetic modifier. Further large-scale studies are needed to investigate genetic modifiers in RET L790F carriers.
(Copyright © 2020 Mathiesen, Nielsen, Rasmussen, Kiss, Wadt, Hermann, Nielsen, Larsen, Brusgaard, Frederiksen, Godballe and Rossing.)
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فهرسة مساهمة: Keywords: FLT3 R387Q; L790F; REarranged during Transfection; gene variants; medullary thyroid carcinoma; multiple endocrine neoplasia type 2; variability
المشرفين على المادة: EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
EC 2.7.10.1 (RET protein, human)
SCR Disease Name: Thyroid cancer, medullary
تواريخ الأحداث: Date Created: 20200516 Date Completed: 20210526 Latest Revision: 20210526
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC7198720
DOI: 10.3389/fendo.2020.00251
PMID: 32411094
قاعدة البيانات: MEDLINE
الوصف
تدمد:1664-2392
DOI:10.3389/fendo.2020.00251