甲状旁腺瘤和癌的分子发病机制

Runjan Chetty
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引用次数: 0

摘要

甲状旁腺腺瘤和癌的分子特征和景观已经完善,不同的基因和途径已经阐明。参与肿瘤发生的关键基因突变甲状旁腺瘤已被确定。由于失活或杂合性缺失,MEN1基因在散发性和综合征性甲状旁腺瘤中都起着关键作用。钙敏感基因、CASR和GNA11在10-15%的腺瘤中发生突变。细胞周期和wnt通路异常以及表观遗传修饰也参与甲状旁腺瘤的形成。甲状旁腺癌虽然非常罕见,但以CDC73基因(也称为甲状旁腺功能亢进-2基因)失活突变为典型,也与甲状旁腺功能亢进-颌骨肿瘤综合征有关。CDC73基因的失活导致对铁蛋白的免疫组织化学损失。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular pathogenesis of parathyroid adenoma and carcinoma
The molecular profile and landscape of parathyroid adenomas and carcinomas has been refined and distinct genes and pathways have been elucidated. Mutations in key genes involved in the tumourigenesis parathyroid adenomas have been identified. The MEN1 gene, due to inactivation or loss of heterozygosity is pivotal in both sporadic and syndromic parathyroid adenomas. The calcium senor genes, CASR and GNA11 are mutated in 10–15% of adenomas. Cell cycle and wnt pathway abnormalities together with epigenetic modifications are also involved in parathyroid adenoma formation. Parathyroid carcinomas, while very rare, are typified by inactivating mutations CDC73 gene (also known as hyperparathyroidism-2 gene) and is also implicated in Hyperparathyroidism-Jaw tumour syndrome. Inactivation of the CDC73 gene results in immunohistochemical loss of parafibromin protein.
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来源期刊
Diagnostic Histopathology
Diagnostic Histopathology Medicine-Pathology and Forensic Medicine
CiteScore
1.30
自引率
0.00%
发文量
64
期刊介绍: This monthly review journal aims to provide the practising diagnostic pathologist and trainee pathologist with up-to-date reviews on histopathology and cytology and related technical advances. Each issue contains invited articles on a variety of topics from experts in the field and includes a mini-symposium exploring one subject in greater depth. Articles consist of system-based, disease-based reviews and advances in technology. They update the readers on day-to-day diagnostic work and keep them informed of important new developments. An additional feature is the short section devoted to hypotheses; these have been refereed. There is also a correspondence section.
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