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1例格雷夫斯病患者伴SDHB基因突变的舌副神经节瘤

Paraganglioma of the tongue with SDHB gene mutation in a patient with Graves' disease.

作者信息

Duran Alvarez Marcela Adriana, Tavarez Rodriguez Juan Jose, Robledo Mercedes

机构信息

Department of Pathology Hospital de Medina del Campo Valladolid Spain.

Department of Otorhinolaringology Hospital de Medina del Campo Valladolid Spain.

出版信息

Clin Case Rep. 2019 Mar 2;7(4):726-730. doi: 10.1002/ccr3.2065. eCollection 2019 Apr.

DOI:10.1002/ccr3.2065
PMID:30997073
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6452525/
Abstract

We report a case of an apparently sporadic paraganglioma of the tongue with a germ-line mutation in a female patient with asymptomatic Graves' disease. The tongue is an unusual primary location. Genetic testing is mandatory in all cases. Thyroid gland dysfunction and autoimmune phenomena could be associated with some paragangliomas.

摘要

我们报告了一例舌部明显散发的副神经节瘤病例，该女性患者患有无症状性格雷夫斯病，存在种系突变。舌部是一个不常见的原发部位。所有病例均必须进行基因检测。甲状腺功能障碍和自身免疫现象可能与某些副神经节瘤有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8c2/6452525/6351ab006f4b/CCR3-7-726-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8c2/6452525/1552d5a8834e/CCR3-7-726-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8c2/6452525/6351ab006f4b/CCR3-7-726-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8c2/6452525/1552d5a8834e/CCR3-7-726-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8c2/6452525/6351ab006f4b/CCR3-7-726-g002.jpg

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本文引用的文献

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J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31.
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Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.嗜铬细胞瘤和副神经节瘤的代谢基因组学：个性化生化和基因检测的综合方法。
Clin Biochem Rev. 2017 Apr;38(2):69-100.
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Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.靶向外显子组测序揭示嗜铬细胞瘤和副神经节瘤中潜在的癌症易感突变。
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PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.PheoSeq：一种用于嗜铬细胞瘤和副神经节瘤诊断的靶向新一代测序检测方法。
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