MECOM rearrangement involving the MYC locus: Two additional patients with the rare translocation, t(3;8)(q26.2;q24), and molecular review. (August 2020)

• Record Type: Journal Article
• Authors: Smith, Scott C.; Qdaisat, Tareq Z.S.; Althof, Pamela A.; Dave, Bhavana J.; Sanmann, Jennifer N.
• Is Part Of: Leukemia research. Volume 95(2020)
• Publication Date: 2020-08
• Subjects: MECOM rearrangement -- t(3;8)(q26.2;q24) -- MYC rearrangement -- Myeloid neoplasms; Leukemia -- Periodicals; Leukemia -- Periodicals; Leucémie -- Périodiques; Leukemia; Periodicals; Electronic journals; Electronic journals; 616.9941905
• DOI: 10.1016/j.leukres.2020.106387
• Languages: English
• ISSNs: 0145-2126

Abstract

Highlights: Additional patients with t(3;8)(q26.2;q24) reported involving MECOM and MYC loci. Molecular review associated with this rearrangement. Review of rare MECOM rearrangements in myeloid neoplasms. Speculation about the molecular contribution of the t(3;8) translocation, including involvement of PVT1. Abstract: A relatively small subset of myeloid neoplasms involve rearrangements of cytoband 3q26.2. Such rearrangements are often in response to therapy and carry a poor prognosis. The ectopic expression of MECOM is the result of such translocations. To date, thirty-three t(3;8)(q26.2;q24) cases have been reported; we contribute two patients with confirmed MECOM and MYC rearrangements. Both patients presented with pancytopenia and were diagnosed with myelodysplastic/myeloproliferative disorders. In addition to translocation t(3;8), Patient 1 possessed a derivative chromosome 5, while Patient 2 possessed monosomy 7; neither patient's clonal abnormalities resolved in follow-up studies. Of the previous 33 cases, one exhibited 5q loss, while monosomy 7 was found in fifteen. These findings contribute to the small number of reported cases with t(3;8) translocations. We also speculate about the molecular mechanisms associated with this translocation.