伴有血液恶性肿瘤和遗传倾向的多发性原发性癌症:病例系列。

IF 4 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Annals of Laboratory Medicine Pub Date : 2024-09-01 Epub Date: 2024-03-07 DOI:10.3343/alm.2023.0444
Jiwon Yun, Dong Soon Lee, Sungyoung Lee, Hongseok Yun
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引用次数: 0

摘要

所谓 "多原发(MP)癌症",是指同一患者体内存在一种以上的癌症。多发性原发性癌症与血液系统恶性肿瘤同时存在的情况并不多见。在本研究中,我们介绍了五名确诊为多发性骨髓瘤合并血液恶性肿瘤的患者。我们全面分析了他们的临床特征、细胞遗传学特征以及种系和体细胞变异。作为第一原发病例,两名患者为未接受细胞毒治疗的实体瘤,三名患者为接受细胞毒治疗的血液肿瘤。第二原发癌均为血液系统恶性肿瘤,不符合治疗相关髓系肿瘤的标准。值得注意的是,五名患者中有两名(40%)携带致病潜能/假定的癌症易感基因种系变异。因此,当患有血液恶性肿瘤的骨髓癌患者需要考虑进行相关供体干细胞移植时,应考虑进行种系变异检测。
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Multiple Primary Cancers With Hematologic Malignancies and Germline Predisposition: A Case Series.

The term "multiple primary (MP) cancers" refers to the existence of more than one cancer in the same patient. The combination of MP cancers with hematological malignancies is relatively uncommon. In this study, we present five patients diagnosed with MP cancers concomitant with hematological malignancies. We comprehensively analyzed their clinical characteristics, cytogenetic profiles, and germline and somatic variants. As first primaries, two patients had solid cancer not followed by cytotoxic therapy and three had hematologic cancer, followed by cytotoxic therapy. The second primaries were all hematologic malignancies that did not meet the criteria for therapy-related myeloid neoplasm. Notably, two (40%) out of the five patients harbored pathogenic potential/presumed germline variants in cancer predisposition genes. Therefore, germline variant testing should be considered when MP cancers with hematological malignancies require consideration for related donor stem cell transplantation.

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来源期刊
Annals of Laboratory Medicine
Annals of Laboratory Medicine MEDICAL LABORATORY TECHNOLOGY-
CiteScore
8.30
自引率
12.20%
发文量
100
审稿时长
6-12 weeks
期刊介绍: Annals of Laboratory Medicine is the official journal of Korean Society for Laboratory Medicine. The journal title has been recently changed from the Korean Journal of Laboratory Medicine (ISSN, 1598-6535) from the January issue of 2012. The JCR 2017 Impact factor of Ann Lab Med was 1.916.
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