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间皮瘤中潜伏期短的因果归因意义:一例具有易感性种系突变的病例报告及文献复习。

The Significance of Short Latency in Mesothelioma for Attribution of Causation: Report of a Case with Predisposing Germline Mutations and Review of the Literature.

机构信息

Department of Anatomical Pathology, SA Pathology at Flinders Medical Centre, Adelaide, SA 5042, Australia.

Department of Anatomical Pathology, Flinders University, Adelaide, SA 5042, Australia.

出版信息

Int J Environ Res Public Health. 2021 Dec 17;18(24):13310. doi: 10.3390/ijerph182413310.

DOI:10.3390/ijerph182413310
PMID:34948918
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8702130/
Abstract

Malignant mesothelioma is a tumour of the serosal membranes, related to asbestos exposure. Median latency is in the order of 40 years in various registries, but small numbers of cases with shorter latencies have long been reported and often dismissed as unrelated to asbestos exposure. However, emerging data regarding the significance of inherited mutations leading to a predisposition to mesothelioma suggest that the causative effect of asbestos may be associated with shorter latencies in a subset of patients. Here, we describe a male patient with germline mutations in RAD51 and p53 who developed peritoneal mesothelioma 8.5 years after well-documented asbestos exposure and discuss the current literature on the subject. Mesothelioma in situ is now a WHO-accepted diagnosis, but preliminary data reveal a potential lead time of 5 or more years to invasive disease, and this is also a factor which may affect the recording of latency (and potentially survival) in the future.

摘要

恶性间皮瘤是一种发生于浆膜层的肿瘤,与石棉暴露有关。在不同的登记处,中位数潜伏期约为 40 年,但长期以来一直有少量潜伏期较短的病例报告,并经常被认为与石棉暴露无关。然而,关于导致间皮瘤易感性的遗传突变的重要数据表明,石棉的致病作用可能与一部分患者的潜伏期较短有关。在这里,我们描述了一例男性患者,他携带 RAD51 和 p53 的种系突变,在有记录的石棉暴露 8.5 年后发展为腹膜间皮瘤,并讨论了目前关于该主题的文献。间皮瘤原位是世界卫生组织(WHO)认可的诊断,但初步数据显示,侵袭性疾病的潜在前置时间为 5 年或更长,这也是未来可能影响潜伏期(和潜在生存)记录的一个因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffdc/8702130/898dbca5b6e0/ijerph-18-13310-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffdc/8702130/898dbca5b6e0/ijerph-18-13310-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffdc/8702130/898dbca5b6e0/ijerph-18-13310-g001.jpg

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本文引用的文献

1
The concept of mesothelioma in situ, with consideration of its potential impact on cytology diagnosis.间皮瘤原位的概念,并考虑其对细胞学诊断的潜在影响。
Pathology. 2021 Jun;53(4):446-453. doi: 10.1016/j.pathol.2020.12.005. Epub 2021 Mar 26.
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Heterozygous germline mutations increase susceptibility to asbestos and mesothelioma.胚系杂合突变增加了石棉和间皮瘤的易感性。
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Frequency and prognostic value of mutations associated with the homologous recombination DNA repair pathway in a large pan cancer cohort.
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Sci Rep. 2020 Nov 19;10(1):20223. doi: 10.1038/s41598-020-76975-6.
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Whole exome sequencing reveals BAP1 somatic abnormalities in mesothelioma in situ.全外显子组测序揭示原位间皮瘤中BAP1体细胞异常。
Lung Cancer. 2020 Nov;149:1-4. doi: 10.1016/j.lungcan.2020.09.002. Epub 2020 Sep 6.
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Biological Mechanisms and Clinical Significance of Mutations in Human Cancer.人类癌症突变的生物学机制和临床意义。
Cancer Discov. 2020 Aug;10(8):1103-1120. doi: 10.1158/2159-8290.CD-19-1220. Epub 2020 Jul 20.
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Integrative approach to cytologic and molecular diagnosis of malignant pleural mesothelioma.恶性胸膜间皮瘤细胞学与分子诊断的综合方法
Transl Lung Cancer Res. 2020 Jun;9(3):934-943. doi: 10.21037/tlcr-2019-pps-10.
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Inherited Genetic Mutations and Polymorphisms in Malignant Mesothelioma: A Comprehensive Review.遗传性基因突变和恶性间皮瘤的多态性:全面综述。
Int J Mol Sci. 2020 Jun 17;21(12):4327. doi: 10.3390/ijms21124327.
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Gender differences in molecular-guided therapy recommendations for metastatic malignant mesothelioma.分子指导下转移性恶性间皮瘤治疗建议的性别差异。
Thorac Cancer. 2020 Jul;11(7):1979-1988. doi: 10.1111/1759-7714.13491. Epub 2020 May 21.
9
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