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上皮性卵巢癌的分子突变状态：伊朗东北部57例病例分析

Molecular Status of Mutation in Epithelial Ovarian Cancer: An Analysis of 57 Cases in the Northeast of Iran.

作者信息

Jafarian Amirhossein, Jafaripour Masoumeh, Gharib Masoumeh, Salehi Maryam, Mohamadian Roshan Nema, Etemad Sare, Mirshekar Khatoone, Sheikhi Maryam, Heidari Masoumeh, Ahmadian Behnaz, Khoshnegah Zahra, Ayatollahi Hossein, Siyadat Payam

机构信息

Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Department of Surgical and Clinical Pathology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

出版信息

Iran J Pathol. 2023 Spring;18(2):134-139. doi: 10.30699/IJP.2023.554750.2907. Epub 2023 Jun 20.

DOI:10.30699/IJP.2023.554750.2907
PMID:37600581
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10439751/
Abstract

BACKGROUND & OBJECTIVE: Epithelial ovarian cancer (EOC) is the most prevalent type of ovarian cancer. Previous studies have elucidated different pathways for the progression of this malignancy. The mutation in the B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene, a member of the MAPK/ERK signaling pathway, plays a role in the development of EOC. The current study aimed to determine the frequency of the BRAF V600E mutation in ovarian serous and mucinous tumors, including borderline and carcinoma subtypes.

METHODS

A total of 57 formalin-fixed paraffin-embedded samples, including serous borderline tumors (SBTs), low-grade serous carcinomas (LGSCs), high-grade serous carcinomas (HGSCs), mucinous borderline tumors (MBTs), and mucinous carcinomas, and 57 normal ovarian tissues were collected. The BRAF V600E mutation was analyzed using polymerase chain reaction (PCR) and sequencing.

RESULTS

While 40% of the SBT harbor mutation, we found no mutation in the invasive serous carcinoma (=0.017). Also, there was only 1 mutation in MBT and no mutation in mucinous carcinomas. In addition, we found no mutation in the control group.

CONCLUSION

The mutation is most frequent in borderline tumors but not in invasive serous carcinomas. It seems that 2 different pathways exist for the development of ovarian epithelial neoplasms: one for borderline tumors and the other for high-grade invasive carcinomas. Our study supports this hypothesis. The mutation is rare in mucinous neoplasms.

摘要

背景与目的

上皮性卵巢癌（EOC）是最常见的卵巢癌类型。以往研究阐明了这种恶性肿瘤进展的不同途径。B-Raf原癌基因丝氨酸/苏氨酸激酶（BRAF）基因是MAPK/ERK信号通路的成员，其突变在EOC的发生发展中起作用。本研究旨在确定BRAF V600E突变在卵巢浆液性和黏液性肿瘤（包括交界性和癌性亚型）中的频率。

方法

共收集57份福尔马林固定石蜡包埋样本，包括浆液性交界性肿瘤（SBTs）、低级别浆液性癌（LGSCs）、高级别浆液性癌（HGSCs）、黏液性交界性肿瘤（MBTs）和黏液性癌，以及57份正常卵巢组织。采用聚合酶链反应（PCR）和测序分析BRAF V600E突变。

结果

虽然40%的SBT存在突变，但我们在浸润性浆液性癌中未发现突变（P=0.017）。此外，MBT中仅有1例突变，黏液性癌中未发现突变。另外，我们在对照组中未发现突变。

结论

BRAF V600E突变在交界性肿瘤中最常见，但在浸润性浆液性癌中不常见。似乎卵巢上皮性肿瘤的发生发展存在两种不同途径：一种是交界性肿瘤的途径，另一种是高级别浸润性癌的途径。我们的研究支持这一假说。BRAF V600E突变在黏液性肿瘤中罕见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/3599800e69df/ijp-18-134-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/6837f278871a/ijp-18-134-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/a5e3e691a3fc/ijp-18-134-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/1d8575c517a2/ijp-18-134-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/4acde8a8429c/ijp-18-134-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/b81cc95a9004/ijp-18-134-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/3599800e69df/ijp-18-134-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/6837f278871a/ijp-18-134-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/a5e3e691a3fc/ijp-18-134-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/1d8575c517a2/ijp-18-134-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/4acde8a8429c/ijp-18-134-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/b81cc95a9004/ijp-18-134-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f31/10439751/3599800e69df/ijp-18-134-g006.jpg

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