Sophia Peng is currently a third-year resident in hematopathology at the University of Alberta. She spent her childhood in Taipei, Shanghai, and Sydney, before immigrating to Canada and completing her undergraduate and medical degree at the University of British Columbia, Northern Medical Program. She finds applying the integration of complex multi-faceted laboratory findings to clinical consultations the most rewarding part of her training. In her spare time, she enjoys tinkering in the kitchen and spending time with her 7lb miniature pinscher.
Through modern molecular methods, our understanding of the genetics of phenotypically-diverse MDS has accelerated from the early knowledge of cytogenetic abnormalities to complex gene drivers affecting a diverse range of DNA/RNA modification, transcriptional factors, among others; showing substantial overlaps with benign age-related clonal changes and high grade myeloid neoplasms. Through the use of an illustrative case, we will review the genetic features of MDS and their clinical impact.
Identify the common genetic features of MDS.
Understand the role of molecular testing in diagnosis, prognosis, and treatment of MDS