MECOM rearrangement involving the MYC locus: Two additional patients with the rare translocation, t(3;8)(q26.2;q24), and molecular review
| Autor: | Jennifer N. Sanmann, Pamela A. Althof, Bhavana J. Dave, Scott C. Smith, Tareq Z.S. Qdaisat |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Cancer Research Myeloid Derivative chromosome MECOM Genes myc Chromosomal translocation Biology Translocation Genetic 03 medical and health sciences 0302 clinical medicine Myeloproliferative Disorders medicine Humans Aged Chromosome 7 (human) Hematology Middle Aged medicine.disease Pancytopenia Myelodysplastic-Myeloproliferative Diseases MDS1 and EVI1 Complex Locus Protein medicine.anatomical_structure Oncology 030220 oncology & carcinogenesis Cancer research Chromosomes Human Pair 5 Ectopic expression Chromosome Deletion Chromosomes Human Pair 7 030215 immunology |
| Zdroj: | Leukemia research. 95 |
| ISSN: | 1873-5835 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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