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一名男性罕见的低级别原发性腹膜浆液性癌病例的分子分析

Molecular analysis of a rare case of low-grade primary peritoneal serous carcinoma in a male.

作者信息

Makarenko Vladislav V, Kandil Dina, Cosar Ediz F, Hutchinson Lloyd, Khan Ashraf

机构信息

Department of Pathology, University of Massachusetts Memorial Medical Center, Worcester, MA, USA.

Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.

出版信息

Rare Tumors. 2020 Dec 9;12:2036361320979219. doi: 10.1177/2036361320979219. eCollection 2020.

DOI:10.1177/2036361320979219
PMID:33354307
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7734543/
Abstract

Primary peritoneal serous carcinomas (PPSC) are exceedingly rare in male patients. Only a few cases were reported, and mostly with the limited immunophenotypical characterization. No molecular analysis of PPSC in males has been previously performed. We here describe another case of PPSC in a male patient. A comprehensive molecular analysis of the tumor revealed SF3B1 gene mutation as a possible driver.

摘要

原发性腹膜浆液性癌(PPSC)在男性患者中极为罕见。仅有少数病例被报道,且大多免疫表型特征有限。此前尚未对男性PPSC进行分子分析。我们在此描述另一例男性PPSC患者。对该肿瘤进行的全面分子分析显示,SF3B1基因突变可能是驱动因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5d8/7734543/4ad16a2ab567/10.1177_2036361320979219-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5d8/7734543/be294c83ebf8/10.1177_2036361320979219-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5d8/7734543/4ad16a2ab567/10.1177_2036361320979219-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5d8/7734543/be294c83ebf8/10.1177_2036361320979219-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5d8/7734543/4ad16a2ab567/10.1177_2036361320979219-fig2.jpg

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本文引用的文献

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Am J Surg Pathol. 2017 Dec;41(12):1675-1682. doi: 10.1097/PAS.0000000000000935.
2
Primary Peritoneal Serous Carcinoma in Men: A Rare and Non--associated Entity.男性原发性腹膜浆液性癌:一种罕见且无关联的实体。
Anticancer Res. 2017 Jun;37(6):3069-3072. doi: 10.21873/anticanres.11662.
3
Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma.
一例卵巢外腹膜浆液性乳头状癌的基因图谱
Oncol Lett. 2016 Oct;12(4):2395-2402. doi: 10.3892/ol.2016.4933. Epub 2016 Aug 2.
4
Cancer-associated SF3B1 mutants recognize otherwise inaccessible cryptic 3' splice sites within RNA secondary structures.与癌症相关的SF3B1突变体可识别RNA二级结构中原本无法接近的隐蔽3'剪接位点。
Oncogene. 2017 Feb 23;36(8):1123-1133. doi: 10.1038/onc.2016.279. Epub 2016 Aug 15.
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Gynecol Oncol Res Pract. 2015 May 12;2:1. doi: 10.1186/s40661-015-0008-z. eCollection 2015.
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Origin and molecular pathogenesis of ovarian high-grade serous carcinoma.卵巢高级别浆液性癌的起源和分子发病机制。
Ann Oncol. 2013 Dec;24 Suppl 10:x16-21. doi: 10.1093/annonc/mdt463.
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Surg Today. 2014 Feb;44(2):373-7. doi: 10.1007/s00595-013-0500-1. Epub 2013 Feb 23.
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