Chi Kun, Li Yang, Xu Lan, Wang Xuefeng
a Department of Laboratory Medicine , Qingdao Women & Children's Hospital , Qingdao , China.
b State Key Laboratory of Medical Genomics , Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , China.
Leuk Lymphoma. 2017 Oct;58(10):2470-2479. doi: 10.1080/10428194.2017.1292357. Epub 2017 Apr 10.
Metaphase cytogenetics (MC) karyotyping is a fundamental way to approach cytogenetic pathogenesis of MDS-related myeloid malignancies. However, in some patients, the results are normal while the patients often show discrepancies in survival conditions. To explain this question, we analyzed CytoScan™ HD array results of 20 MC-normal/failure patients who were followed up for three years. Exon sequencing was performed in genes RUNX1, TP53, ASXL1, and TET2. The array enabled the detection of additional aberrations in 16 (80%) patients. Eight patients were detected with cryptic copy number losses and six of them got aggressive disease conditions. RUNX1 mutations were sequenced in P110 and P114. Most importantly, two patients (P114 and P116) with copy number loss aberrations got stable survival conditions during follow-ups, and a novel recurrent copy number loss region harboring the proto-oncogene MYB was detected on chromosome 6q23.3 in both of them, which might benefit the survival of the patients.
中期细胞遗传学（MC）核型分析是探究骨髓增生异常综合征相关髓系恶性肿瘤细胞遗传发病机制的基本方法。然而，在一些患者中，结果显示正常，但患者的生存状况却常常存在差异。为了解释这个问题，我们分析了20例MC结果正常/失败且随访三年的患者的CytoScan™ HD芯片结果。对RUNX1、TP53、ASXL1和TET2基因进行了外显子测序。该芯片在16例（80%）患者中检测到了额外的畸变。8例患者检测到隐匿性拷贝数缺失，其中6例病情进展。对P110和P114进行了RUNX1突变测序。最重要的是，两名存在拷贝数缺失畸变的患者（P114和P116）在随访期间生存状况稳定，并且在他们两人的6号染色体q23.3区域均检测到一个含有原癌基因MYB的新的复发性拷贝数缺失区域，这可能对患者的生存有益。
