Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm
| Autor: | Gerson M. Ferreira, Elaine Sobral da Costa, Isabel M. Carreira, Marcelo Gerardin Poirot Land, Moneeb A.K. Othman, Joana B. Melo, Bruno Almeida Lopes, Maria Luiza Macedo Silva, Thomas Liehr, Mariana Tavares de Souza, Roberto R. Capela de Matos, Mariana Emerenciano, Raul C. Ribeiro |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Cancer Research Myeloid MECOM Biology Myeloid Neoplasm Molecular cytogenetics 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Epigenetics Molecular Biology Chromosome 7 (human) Myeloproliferative Disorders Karyotype MDS1 and EVI1 Complex Locus Protein 030104 developmental biology medicine.anatomical_structure Child Preschool 030220 oncology & carcinogenesis Cytogenetic Analysis Cancer research Female Comparative genomic hybridization |
| Zdroj: | Cancer Genetics. 221:25-30 |
| ISSN: | 2210-7762 |
| Popis: | Myeloid neoplasms are a heterogeneous group of hematologic disorders with divergent patterns of cell differentiation and proliferation, as well as divergent clinical courses. Rare recurrent genetic abnormalities related to this group of cancers are associated with poor outcomes. One such abnormality is the MECOM gene rearrangement that typically occurs in cases with chromosome 7 abnormalities. MECOM encodes a transcription factor that plays an essential role in cell proliferation and maintenance and also in epigenetic regulation. Aberrant expression of this gene is associated with reduced survival. Hence, its detailed characterization provides biological and clinical information relevant to the management of pediatric myeloid neoplasms. In this work, we describe a rare karyotype harboring three copies of MECOM with overexpression of the gene in a child with a very aggressive myeloid neoplasm. Cytogenetic studies defined the karyotype as 46,XX,der(7)t(3;7)(q26.2;q21.2). Array comparative genomic hybridization (aCGH) revealed a gain of 26.04 Mb in the 3q26.2-3qter region and a loss of 66.6 Mb in the 7q21.2-7qter region. RT-qPCR analysis detected elevated expression of the MECOM and CDK6 genes (458.5-fold and 35.2-fold, respectively). Overall, we show the importance of performing detailed molecular cytogenetic analysis of MECOM to enable appropriate management of high-risk pediatric myeloid neoplasms. |
| Databáze: | OpenAIRE |
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