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


Journal

Leukemia research
ISSN: 1873-5835
Titre abrégé: Leuk Res
Pays: England
ID NLM: 7706787

Informations de publication

Date de publication:
08 2020
Historique:
received: 04 05 2020
revised: 18 05 2020
accepted: 19 05 2020
pubmed: 15 6 2020
medline: 5 11 2020
entrez: 15 6 2020
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 32535247
pii: S0145-2126(20)30092-8
doi: 10.1016/j.leukres.2020.106387
pii:
doi:

Substances chimiques

MDS1 and EVI1 Complex Locus Protein 0
MECOM protein, human 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

106387

Informations de copyright

Copyright © 2020 Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest All contributors have read and approved this submission; there are no conflicts of interest to declare.

Auteurs

Scott C Smith (SC)

University of Nebraska Medical Center, United States; Human Genetics Laboratory, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, NE, United States.

Tareq Z S Qdaisat (TZS)

University of Nebraska Medical Center, United States; Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, United States.

Pamela A Althof (PA)

University of Nebraska Medical Center, United States; Human Genetics Laboratory, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, NE, United States.

Bhavana J Dave (BJ)

University of Nebraska Medical Center, United States; Human Genetics Laboratory, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, NE, United States.

Jennifer N Sanmann (JN)

University of Nebraska Medical Center, United States; Human Genetics Laboratory, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, NE, United States. Electronic address: jsanmann@unmc.edu.

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Classifications MeSH