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促肾上腺皮质激素分泌型垂体癌发病机制中相关新基因的鉴定:一例报告及文献综述

Identification of Novel Genes Involved in the Pathogenesis of an ACTH-Secreting Pituitary Carcinoma: A Case Report and Literature Review.

作者信息

Guo Fuyou, Wang Guoqing, Wang Fang, Xu DingKang, Liu Xianzhi

机构信息

Department of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

出版信息

Front Oncol. 2018 Nov 6;8:510. doi: 10.3389/fonc.2018.00510. eCollection 2018.

DOI:10.3389/fonc.2018.00510
PMID:30460199
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6232249/
Abstract

Pituitary carcinomas (PCs) is considerable uncommon entities with a poor prognosis that represents only 0. 1-0.2% of all pituitary tumors. There are fewer than 150 reported cases up to now. In addition, the molecular pathogenesis leading to malignant pituitary transformation remain unclear due to the rarity of PCs. Here we present an uncommon case of ACTH-secreting PCs and explore the gene mutation following pituitary adenoma transformation. Our detailed clinical, histopathological and molecular detection data suggest that novel genes of ATRX and PTEN were implicated in the pathogenesis of PCs by searching Pubmed and the Web of Science databases as well as Cosmic databank. To the best of our knowledge, this is the first documented rare PCs patient with novel gene mutations that included ATRX and PTEN in addition to TP53. Present finding may therefore provide significant information for targeted therapy of PCs.

摘要

垂体癌(PCs)是相当罕见的实体瘤,预后较差,仅占所有垂体肿瘤的0.1 - 0.2%。截至目前,报道的病例少于150例。此外,由于垂体癌罕见,导致垂体恶性转化的分子发病机制仍不清楚。在此,我们报告一例罕见的分泌促肾上腺皮质激素的垂体癌病例,并探讨垂体腺瘤转化后的基因突变情况。通过检索PubMed、科学网数据库以及宇宙数据库,我们详细的临床、组织病理学和分子检测数据表明,ATRX和PTEN等新基因与垂体癌的发病机制有关。据我们所知,这是首例记录在案的罕见垂体癌患者,除TP53外,还存在包括ATRX和PTEN在内的新基因突变。因此,目前的发现可能为垂体癌的靶向治疗提供重要信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2de/6232249/6352e005e6cf/fonc-08-00510-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2de/6232249/6b17c65ecb14/fonc-08-00510-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2de/6232249/6352e005e6cf/fonc-08-00510-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2de/6232249/6b17c65ecb14/fonc-08-00510-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2de/6232249/6352e005e6cf/fonc-08-00510-g0002.jpg

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