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ALK1基因重排的肺肉瘤样癌在一名年轻男性中伪装成肺结核

ALK1 Gene Rearranged Pulmonary Sarcomatoid Carcinoma Masquerading as Tuberculosis in a Young Male.

作者信息

Sahay Ayushi, Kumar Rajiv, Janu Amit, Prabhash Kumar

机构信息

Department of Pathology, Tata Memorial Center, Homi Bhabha National Institute (HBNI), Parel, MUMBAI, INDIA.

出版信息

Turk Patoloji Derg. 2020;1(1):71-77. doi: 10.5146/tjpath.2020.01481.

DOI:10.5146/tjpath.2020.01481
PMID:32149365
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10508925/
Abstract

Pulmonary sarcomatoid carcinoma is rare, with limited treatment options and poor prognosis. In contrast to other non small cell lung carcinomas, not much is known about its molecular biology. In an endemic country like India, lung cancer is often masked by tuberculosis and presents in advanced stages. We report here an unusual case of pulmonary sarcomatoid carcinoma, in a young non-smoker male, who had co-existent tuberculosis masking and delaying the diagnosis of malignancy. On molecular study, the tumor showed ALK gene rearrangement, both by immunohistochemistry and fluorescence in-situ hybridization, which has been reported only twice previously. Presence of ALK gene rearrangements in sarcomatoid carcinoma has significant therapeutic implications and potential for altering the prognosis of this fatal disease. Hence we recommend performing ALK gene rearrangement analysis in all cases of sarcomatoid lung carcinomas. The report discusses the diagnostic approach and provides insight into the molecular pathogenesis of this exceedingly rare malignancy.

摘要

肺肉瘤样癌很罕见,治疗选择有限且预后较差。与其他非小细胞肺癌不同,人们对其分子生物学了解不多。在像印度这样的地方病流行国家,肺癌常被结核病掩盖并在晚期才出现。我们在此报告一例不寻常的肺肉瘤样癌病例,患者为一名年轻非吸烟男性,同时患有结核病,掩盖并延误了恶性肿瘤的诊断。分子研究显示,通过免疫组织化学和荧光原位杂交,肿瘤均显示ALK基因重排,此前仅有两次相关报道。肉瘤样癌中ALK基因重排的存在具有重要的治疗意义,并有可能改变这种致命疾病的预后。因此,我们建议对所有肺肉瘤样癌病例进行ALK基因重排分析。本报告讨论了诊断方法,并深入探讨了这种极其罕见恶性肿瘤的分子发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdb4/10508925/91677ae05d9f/TurkPatolojiDerg-37-9125-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdb4/10508925/b6f9913c5ce3/TurkPatolojiDerg-37-9125-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdb4/10508925/175f051a8986/TurkPatolojiDerg-37-9125-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdb4/10508925/91677ae05d9f/TurkPatolojiDerg-37-9125-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdb4/10508925/b6f9913c5ce3/TurkPatolojiDerg-37-9125-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdb4/10508925/175f051a8986/TurkPatolojiDerg-37-9125-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdb4/10508925/91677ae05d9f/TurkPatolojiDerg-37-9125-g003.jpg

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Best Practices Recommendations for Diagnostic Immunohistochemistry in Lung Cancer.肺癌诊断免疫组织化学的最佳实践推荐。
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KRAS mutation is predictive of outcome in patients with pulmonary sarcomatoid carcinoma.KRAS 基因突变可预测肺肉瘤样癌患者的预后。
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Clinical Significance and Next-Generation Sequencing of Chinese Pulmonary Sarcomatoid Carcinoma.中国肺肉瘤样癌的临床意义和下一代测序。
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Pulmonary Sarcomatoid Carcinomas Commonly Harbor Either Potentially Targetable Genomic Alterations or High Tumor Mutational Burden as Observed by Comprehensive Genomic Profiling.全面基因组分析显示,肺肉瘤样癌通常存在潜在可靶向的基因组改变或高肿瘤突变负担。
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