A novel recurrent copy number loss region on 6q23.3 in MDS-related myeloid malignancy patients with stable survival conditions

作者：Chi, Kun; Li, Yang; Xu, Lan; Wang, Xuefeng^*

来源：Leukemia and Lymphoma, 2017, 58(10): 2470-2479.

DOI：10.1080/10428194.2017.1292357

• Oncogene MYB
• RUNX1 mutations
• copy number variations
• uniparental disomy
• SNP array analysis

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 (TM) 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.

• 出版日期2017
• 单位上海市闵行区中心医院; 医学基因组学国家重点实验室; 上海交通大学