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

Abstract

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.

Keywords:

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

Acknowledgements

We thank the patients and family members for their interest and support of this study. We are grateful for the technical assistance provided by Yongguo Yu, Ruen Yao from Department of Laboratory Medicine, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine.

Ethical standards

The authors declare that the experiments in this study comply with the current laws of the country in which they were performed.

Potential conflict of interest

Disclosure forms provided by the authors are available with the full text of this article online at http://doi:10.1080/10428194.2017.1292357