engleski

Loss of response to azacitidine is associated with deletion 12p13 in a patient with myelodysplastic syndrome with unique translocation t(13 ; 17)(q12 ; q25) after prior breast cancer and acute promyelocytic leukemia

Treatment-related malignancies represent a lifelong problem reflecting underlying genome instability (obvious weak point at chromosome 17). Unique translocation (13 ; 17)(q12 ; q25) has not been described in MDS before and bears unknown prognostic significance (ZNF198, FLT3, BRCA2, and Septin from the rearranged chromosomal regions are possible candidate genes). Our heavily pretreated patient was successfully treated with azacitidine achieving prolonged remission.Therapy was well tolerated, and no reactivation of previous APL was observed. However, disease control was ultimately lost with the expansion of clone harboringdeletion 12p13 (locus of TEL/EFV6 gene) rendering azacitidine therapy ineffective. This association has not been described so far and implies potential molecular mechanisms worth investigating in further studies.

MDS ; del (12p) ; azacitidine

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