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病例报告:恶性腹膜间皮瘤中的A1159T突变可能与肿瘤复发有关。

Case report: A1159T mutation in malignant peritoneal mesothelioma may be associated with tumor recurrence.

作者信息

Li Ying, Yang Jintao, Zheng Bei, Yan Na, Yang Wenjuan, Xie Xinling, Xu Guoshu, Zhang Meiling

机构信息

Department of Pharmacy, Tongde Hospital of Zhejiang Province, Hangzhou, Zhejiang, China.

Zhejiang Academy of Traditional Chinese Medicine, Hangzhou, Zhejiang, China.

出版信息

SAGE Open Med Case Rep. 2024 Aug 16;12:2050313X241271818. doi: 10.1177/2050313X241271818. eCollection 2024.

DOI:10.1177/2050313X241271818
PMID:39161923
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11331467/
Abstract

Malignant peritoneal mesothelioma is an exceedingly rare malignant tumor. Herein, we present a case of malignant peritoneal mesothelioma in a 59-year-old Chinese female patient who was stable after treatment for multiple relapses. Imaging revealed massive ascites and an irregular thickening of the peritoneal mesangium. Laparoscopic biopsy revealed heterogeneous cell nests in the parietal peritoneal fibrous tissue, which were confirmed by immunohistochemical staining for Calretinin, WT-1, and D2-40. In terms of genetic screening, , and other key driver gene variants closely related to malignant peritoneal mesothelioma have been explored in tumor tissues. Notably, driver mutation was first found in all malignant peritoneal mesothelioma patients, and A1159T gene mutation found in recurrent focal tissue may be associated with recurrent tumor recurrence.

摘要

恶性腹膜间皮瘤是一种极其罕见的恶性肿瘤。在此,我们报告一例59岁中国女性恶性腹膜间皮瘤患者,该患者在多次复发治疗后病情稳定。影像学检查显示大量腹水和腹膜系膜不规则增厚。腹腔镜活检显示壁层腹膜纤维组织中有异质性细胞巢,通过钙视网膜蛋白、WT-1和D2-40免疫组化染色得以证实。在基因筛查方面,已在肿瘤组织中探索了与恶性腹膜间皮瘤密切相关的 以及其他关键驱动基因变异。值得注意的是,在所有恶性腹膜间皮瘤患者中首次发现了 驱动突变,在复发病灶组织中发现的A1159T基因突变可能与肿瘤复发有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/2b22f6b7b52d/10.1177_2050313X241271818-fig7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/a7404a749e18/10.1177_2050313X241271818-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/e571b370b97a/10.1177_2050313X241271818-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/985ddf52fe7f/10.1177_2050313X241271818-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/9e434defe262/10.1177_2050313X241271818-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/cd80ef36576f/10.1177_2050313X241271818-fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/5fc4a13bf35b/10.1177_2050313X241271818-fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/2b22f6b7b52d/10.1177_2050313X241271818-fig7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/a7404a749e18/10.1177_2050313X241271818-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/e571b370b97a/10.1177_2050313X241271818-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/985ddf52fe7f/10.1177_2050313X241271818-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/9e434defe262/10.1177_2050313X241271818-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/cd80ef36576f/10.1177_2050313X241271818-fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/5fc4a13bf35b/10.1177_2050313X241271818-fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aec/11331467/2b22f6b7b52d/10.1177_2050313X241271818-fig7.jpg

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本文引用的文献

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Am J Med Sci. 2023 Jan;365(1):99-103. doi: 10.1016/j.amjms.2022.07.008. Epub 2022 Aug 6.
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Multicystic peritoneal mesothelioma: a systematic review of the literature.多囊性腹膜间皮瘤:文献系统综述
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Treatment of Malignant Peritoneal Mesothelioma.恶性腹膜间皮瘤的治疗
Klin Onkol. 2019 Fall;32(5):333-337. doi: 10.14735/amko2019333.
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Mesothelioma: Scientific clues for prevention, diagnosis, and therapy.间皮瘤:预防、诊断和治疗的科学线索。
CA Cancer J Clin. 2019 Sep;69(5):402-429. doi: 10.3322/caac.21572. Epub 2019 Jul 8.
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Malignant peritoneal mesothelioma: a review.恶性腹膜间皮瘤:综述
Transl Lung Cancer Res. 2018 Oct;7(5):537-542. doi: 10.21037/tlcr.2018.10.04.
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Malignant peritoneal mesothelioma: clinical aspects, and therapeutic perspectives.恶性腹膜间皮瘤:临床特点及治疗前景
Ann Gastroenterol. 2018 Nov-Dec;31(6):659-669. doi: 10.20524/aog.2018.0305. Epub 2018 Sep 14.
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Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations.一名患有家族性共济失调毛细血管扩张症突变的婴儿的恶性腹膜间皮瘤
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