Department of Laboratory Medicine, Korea University Anam Hospital, Korea University College of Medicine, Seoul, Korea.
Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
Ann Lab Med. 2024 Sep 1;44(5):446-449. doi: 10.3343/alm.2023.0444. Epub 2024 Mar 7.
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.
“多原发(MP)癌症”是指同一患者同时存在两种或以上的癌症。MP 癌症与血液系统恶性肿瘤同时存在的情况相对较少。在本研究中,我们报告了 5 例同时诊断为 MP 癌症和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、胚系和体细胞变异。作为首发肿瘤,有 2 例为未接受细胞毒性治疗的实体瘤,3 例为接受细胞毒性治疗后的血液系统恶性肿瘤。继发肿瘤均为不符合治疗相关髓系肿瘤标准的血液系统恶性肿瘤。值得注意的是,5 例患者中有 2 例(40%)携带癌症易感性/假定胚系变异的潜在致病性基因。因此,当需要考虑相关供体干细胞移植治疗 MP 癌症合并血液系统恶性肿瘤时,应考虑进行胚系变异检测。