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原位恶性间皮瘤通过甲基硫代腺苷磷酸化酶缺失和 CDKN2A 纯合缺失诊断:一例报告。

Malignant mesothelioma in situ diagnosed by methylthioadenosine phosphorylase loss and homozygous deletion of CDKN2A: a case report.

机构信息

Division of Thoracic Surgery, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe City, Hyogo Prefecture, 650-0017, Japan.

Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe City, Hyogo Prefecture, 650-0017, Japan.

出版信息

Virchows Arch. 2020 Mar;476(3):469-473. doi: 10.1007/s00428-019-02674-x. Epub 2019 Oct 30.

DOI:10.1007/s00428-019-02674-x
PMID:31667596
Abstract

Malignant pleural mesothelioma (MPM), associated with unfavorable outcomes, is closely associated with asbestos exposure. Early detection and treatment are critical to prolong survival of patients with MPM because of the rapid progression and resistance to treatment. The recently defined malignant mesothelioma in situ (MIS) has been gaining increasing attention with advances in genome-based methods including fluorescence in situ hybridization (FISH) as well as immunohistochemistry. We herein report the case of a MIS in a 73-year-old male with a history of asbestos exposure presenting with massive pleural effusion in the right thoracic cavity. Video-assisted thoracoscopic surgery with pleural biopsy of the right side revealed a single layer of atypical mesothelial cells without invasive lesions by hematoxylin and eosin staining. However, these mesothelial cells exhibited a loss of methylthioadenosine phosphorylase (MTAP) by immunohistochemistry and homozygous deletion of CDKN2A (p16) by FISH, leading to the diagnosis of MIS.

摘要

恶性胸膜间皮瘤(MPM)与不良预后密切相关,与石棉暴露密切相关。由于进展迅速且对治疗有抵抗力,早期发现和治疗对于延长 MPM 患者的生存至关重要。最近定义的恶性间皮瘤原位(MIS)随着基于基因组的方法的进步,包括荧光原位杂交(FISH)和免疫组织化学,受到越来越多的关注。本文报告了一例 73 岁男性病例,该男性有石棉暴露史,表现为右侧胸腔大量胸腔积液。右侧胸腔镜辅助手术和胸膜活检显示单层非典型间皮细胞,苏木精和伊红染色未见浸润性病变。然而,这些间皮细胞通过免疫组织化学显示出甲基硫代腺苷磷酸酶(MTAP)缺失,通过 FISH 显示出 CDKN2A(p16)的纯合缺失,导致 MIS 的诊断。

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本文引用的文献

1
Homozygous deletion of CDKN2A and codeletion of the methylthioadenosine phosphorylase gene in the majority of pleural mesotheliomas.大多数胸膜间皮瘤中CDKN2A的纯合缺失和甲硫腺苷磷酸化酶基因的共缺失。
Clin Cancer Res. 2003 Jun;9(6):2108-13.
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The concept of mesothelioma in situ: implications for diagnosis and histogenesis.原位间皮瘤的概念:对诊断和组织发生的影响。
Semin Diagn Pathol. 1992 May;9(2):151-61.
一名患有进展迅速的肉瘤样胸膜间皮瘤的患者的详细临床过程,该患者无 p16 缺失,伴有全身血源性软组织转移。
BMJ Case Rep. 2024 Feb 10;17(2):e257618. doi: 10.1136/bcr-2023-257618.
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Sarcomatoid mesothelioma diagnosed in a patient with mesothelioma in situ: a case report on morphologic differences after 9-month interval with details analysis of cytology in early-stage mesothelioma.在原位性间皮瘤患者中诊断出的肉瘤样间皮瘤:9 个月间隔后形态学差异的病例报告,详细分析了早期间皮瘤中的细胞学。
Diagn Pathol. 2023 Nov 28;18(1):126. doi: 10.1186/s13000-023-01416-7.
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New Insights in Pleural Mesothelioma Classification Update: Diagnostic Traps and Prognostic Implications.胸膜间皮瘤分类更新的新见解:诊断陷阱与预后意义
Diagnostics (Basel). 2022 Nov 22;12(12):2905. doi: 10.3390/diagnostics12122905.
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Usefulness of malignant pleural effusion for early cytological diagnosis of mesothelioma : A case report.恶性胸腔积液在间皮瘤早期细胞学诊断中的应用:一例报告
Oncol Lett. 2022 Oct 25;24(6):440. doi: 10.3892/ol.2022.13560. eCollection 2022 Dec.
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Sneaky Diagnosis of Pleural Malignant Mesothelioma in Thoracic Surgery: All That Glitters Is Not Gold.胸外科中胸膜恶性间皮瘤的隐匿诊断:闪光的未必都是金子。
J Clin Med. 2022 Jun 6;11(11):3225. doi: 10.3390/jcm11113225.
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