A CASE OF MYELODYSPLASTIC SYNDROME WITH RARE TRANSLOCATION (2-11) (Q31 P15) SECONDARY TO CHEMOTHERAPY TREATMENT

Abstract

Chromosomal translocations are common genetic alterations in myeloid neoplasia, and certain translocations have been specifically associated with secondary myeloid neoplasms following treatment with Topoisomerase II inhibitors. The most frequently observed translocations involve chromosomes 11q23 (MLL) and 21q22 (Runx1), and they typically occur early after chemotherapy. Here, we present a rare case of secondary myelodysplastic syndrome that occurred 14 years after chemotherapy, which included both alkylating agents and Topoisomerase II inhibitors. The patient presented with a translocation t (211) (q31 p15), which resulted in a rearrangement of the Nup98 gene with the HOXD13 gene. To our knowledge, this is the first reported case of this specific translocation in the literature. This case underscores the importance of continued vigilance for the development of secondary myeloid neoplasms in patients who have received chemotherapy and suggests the need for further research to better understand the genetic mechanisms underlying these rare translocations.