Cytogenetic clonal evolution In myelodysplastic syndrome

• Main Author: Aw, Eunice Ching-Yi
• Other Authors: Lim Soon Tiong Alvin
• Format: Final Year Project
• Language: English
• Published: 2018
• Subjects: DRNTU::Science::Biological sciences
• Online Access: http://hdl.handle.net/10356/75938
• Institution: Nanyang Technological University

The acquisition of additional chromosomal abnormalities, clonal evolution (CE), during the course of myelodysplastic syndrome (MDS) portends poorer prognosis and outcomes. To address this, this study aims to determine the types and frequencies of abnormalities acquired in CE, and the occurrence of CE in various clinical parameters. A retrospective study was performed on 65 MDS patients’ diagnostic and follow-up karyotypes. CE occurred in 32% of 44 patients with cytogenetics follow-up. Secondary CE events were detected in 21% of patients with CE. Marker chromosomes, add(5q)/del(5q) and add(9q) were frequent abnormalities observed at diagnosis. The acquisition of marker chromosomes was the most frequent abnormality observed in CE. Patients with abnormal karyotypes demonstrated significantly higher occurrence of CE, indicating predisposition to subsequent CE events and leukaemic progression. Although disease progression and deaths occurred more frequently in CE, the incidence of CE was not significant among the clinical parameters studied, likely due to the small sample size. However, CE remains clinically important as patients with CE had poorer overall survival than patients without CE (median survival 18.0 months versus 41.3 months), indicating that CE leads to poorer prognosis and outcome. The knowledge of CE aids clinicians in the prognostication and treatment of MDS patients.