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Multiple Primary Cancers With Hematologic Malignancies and Germline Predisposition: A Case Series.
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2024-03-07 , DOI: 10.3343/alm.2023.0444
Jiwon Yun 1 , Dong Soon Lee 2 , Sungyoung Lee 3 , Hongseok Yun 3
Affiliation  

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.

中文翻译:


具有血液系统恶性肿瘤和种系易感性的多原发性癌症:病例系列。



术语“多原发性(MP)癌症”是指同一患者体内存在多于一种癌症。 MP 癌症与血液系统恶性肿瘤的合并相对罕见。在这项研究中,我们介绍了 5 名被诊断患有 MP 癌症并伴有血液系统恶性肿瘤的患者。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。作为第一次初选,两名患者患有实体癌,未接受细胞毒治疗,三名患者患有血液癌,随后接受了细胞毒治疗。第二次原发都是不符合治疗相关骨髓肿瘤标准的血液系统恶性肿瘤。值得注意的是,五名患者中有两人 (40%) 在癌症易感基因中存在致病潜力/推测种系变异。因此,当患有血液系统恶性肿瘤的 MP 癌症需要考虑相关供体干细胞移植时,应考虑进行种系变异检测。
更新日期:2024-03-07
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