t(3;8)(q26;q24) with MYC Rearrangement in Acute Myeloid Leukemia: A Case Report

Authors

Vandi Ly, MD, Thomas Jefferson UniversityFollow
Renu Bajaj, PhD, Cytogenetics Laboratory, Departments of Pathology, Anatomy and Cell Biology, Thomas Jefferson University Hospital; Molecular Cytogenetics Laboratory, Department of Genetics, Yale University School of MedicineFollow
Jerald Z. Gong, MD, Thomas Jefferson UniversityFollow
Zi-Xuan Wang, PhD, Thomas Jefferson UniversityFollow
Stephen C Peiper, MD, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of AmericaFollow
Guldeep Uppal, MD, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson UniversityFollow

Document Type

Poster

Publication Date

10-28-2015

Comments

Presented at ASCP Annual Meeting in Long Beach California.

Abstract

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 Citation

Ly, 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.
https://jdc.jefferson.edu/pacbfp/172