Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm.
Cancer Genet
; 221: 25-30, 2018 02.
Article
em En
| MEDLINE
| ID: mdl-29405993
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Análise Citogenética
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Proteína do Locus do Complexo MDS1 e EVI1
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Transtornos Mieloproliferativos
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Cancer Genet
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Brasil