Unique RUNX1 Gene Rearrangements in Acute Myeloid Leukemia Identified (AML)

Abstract

Submit Manuscript | http://medcraveonline.com CasesCase 1: A 9 year old male was referred for fever, fatigue, and pancytopenia. Bone marrow analysis revealed hypercellularity with a mixture of myeloblasts and immature monocytes comprising 90% of cells as determined by both morphology and flow cytometry. Molecular analysis for mutations in FLT3, NMP1 and C-KIT were negative, and FISH revealed rearrangement of RUNX1 locus into the chromosome 7p22 region. Karyotype analysis confirmed this finding, revealing a unique translocation: 46, XY, t(7;21) (p22; q22). Three adults and one child have been reported in the literature with AML or high grade MDS with t(7; 21) involving RUNX1-ubiquitin-specific protease gene (USP42) fusion; however, no consistent prognostic information has emerged from these cases to date. Our patient had reinduction chemotherapy and is currently remission, awaiting stem cell We report here five cases of AML with variant translocation partners of RUNX1; a pediatric AML with t(7;21), and four adult secondary AML cases with t(10;21), t(16;21), del(5q)and t(7;21), and t(5;21), respectively. Sequential metaphase FISH with RUNX1 specific probe and Cytogenetics were performed in all cases to identify the partner chromosome in the RUNX1 rearrangements. transplant.Case 2: A 58 year old male was diagnosed with treatment-related AML following urothelial cell carcinoma. In this case, cytogenetics was normal (46,XY) at diagnosis, but follow up bone marrow analysis at four and eleven months later revealed progressive abnormalities (46,XY,del(9)