Rearrangements of 3q26 have been described in 5% of de novo or therapy related acute myeloid leukemia, myelodysplastic syndrome (MDS), and blast phase of chronic myeloid leukemia. The most common translocations involving 3q26 are t(3;12)(q26;p13), t(3;21)(q26;q22), t(3;3)(q21;q26), t(2;3)(p15∼23;q26∼27) and rarely t(3;7)(q26;q21). However, t(3;8)(q26;q24) with or without monosomy 7 is a rare phenomenon and has been reported in only 10 patients so far. Hereby, we describe a 58 year old patient who was diagnosed with refractory anemia with multilineage dysplasia. Cytogenetic studies revealed monosomy 7. He was then lost to follow-up. A year later he was found to have worsening cytopenias and circulating blasts. He was started on azacytidine. A month later, follow-up bone marrow biopsy showed progression to acute myeloid leukemia (76% blasts). The blasts showed following immunophenotypic profile: CD7+, CD10-, CD13+, CD14-, CD16-, CD33+, CD38+, CD56-, CD64-, CD117-, HLA-DR+, MPO-, cCD3-, cCD22-, cCD79- and TdT-. His karyotype showed evolution with additional finding of t(3;8) which involved MYC gene at 8q24 which was confirmed with metaphase FISH. The breakpoint on 3q26 is most likely the EVI1 fusing with MYC. Even though monosomy 7 has been frequently described to be associated with t(3;8), it is not described as a predecessor of t(3;8). Patient failed first induction chemotherapy. He is currently finishing up his re-induction chemotherapy. This case describes a case of AML arising from MDS with monosomy 7 and involving MYC gene as a partner for 3q26 (EVI1).
Recommended CitationLy, MD, Vandi; Bajaj, PhD, Renu; Gong, MD, Jerald Z.; Wang, PhD, Zi-Xuan; Peiper, MD, Stephen C; and Uppal, MD, Guldeep, "t(3;8)(q26;q24) with MYC Rearrangement in Acute Myeloid Leukemia: A Case Report" (2015). Department of Pathology, Anatomy and Cell Biology Faculty Papers. Paper 172.