{"title":"甲状旁腺瘤和癌的分子发病机制","authors":"Runjan Chetty","doi":"10.1016/j.mpdhp.2025.06.003","DOIUrl":null,"url":null,"abstract":"<div><div><span><span>The molecular profile and landscape of parathyroid adenomas<span> 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 </span></span>MEN1<span> gene, due to inactivation or loss of heterozygosity is pivotal in both sporadic and syndromic parathyroid adenomas. The calcium senor genes, </span></span><span><span>CASR</span></span> and <span><em>GNA11</em></span><span><span> are mutated in 10–15% of adenomas. Cell cycle and wnt pathway abnormalities together with </span>epigenetic modifications are also involved in parathyroid adenoma formation. Parathyroid carcinomas, while very rare, are typified by inactivating mutations </span><em>CDC73</em> gene (also known as <em>hyperparathyroidism-2</em> gene) and is also implicated in Hyperparathyroidism-Jaw tumour syndrome. Inactivation of the <em>CDC73</em> gene results in immunohistochemical loss of parafibromin protein.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 9","pages":"Pages 514-517"},"PeriodicalIF":0.0000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular pathogenesis of parathyroid adenoma and carcinoma\",\"authors\":\"Runjan Chetty\",\"doi\":\"10.1016/j.mpdhp.2025.06.003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div><span><span>The molecular profile and landscape of parathyroid adenomas<span> 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 </span></span>MEN1<span> gene, due to inactivation or loss of heterozygosity is pivotal in both sporadic and syndromic parathyroid adenomas. The calcium senor genes, </span></span><span><span>CASR</span></span> and <span><em>GNA11</em></span><span><span> are mutated in 10–15% of adenomas. Cell cycle and wnt pathway abnormalities together with </span>epigenetic modifications are also involved in parathyroid adenoma formation. Parathyroid carcinomas, while very rare, are typified by inactivating mutations </span><em>CDC73</em> gene (also known as <em>hyperparathyroidism-2</em> gene) and is also implicated in Hyperparathyroidism-Jaw tumour syndrome. Inactivation of the <em>CDC73</em> gene results in immunohistochemical loss of parafibromin protein.</div></div>\",\"PeriodicalId\":39961,\"journal\":{\"name\":\"Diagnostic Histopathology\",\"volume\":\"31 9\",\"pages\":\"Pages 514-517\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diagnostic Histopathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1756231725001070\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnostic Histopathology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1756231725001070","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.
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.