Título :	High frequency of copy-neutral loss of heterozygosity in patients with Myelofibrosis
Autor :	Paula Junior, Milton Rego de Nonino, Alexandre Nascimento, Juliana Minuncio Bonadio, Raphael Severino Pic-Taylor, Aline Oliveira, Silviene Fabiana de Pereira, Rinaldo Wellerson Mascarenhas, Cintia do Couto Araújo, Juliana Forte Mazzeu de
metadata.dc.identifier.orcid:	https://orcid.org/0000-0002-6161-0510
metadata.dc.contributor.affiliation:	Universidade de Brasília, Faculdade de Medicina, Programa de Pós-graduação em Ciências Médicas Universidade Católica de Brasília, Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia CETTRO – Centro de Câncer de Brasília Universidade de Brasília, Faculdade de Medicina, Programa de Pós-graduação em Ciências Médicas Hospital de Base de Brasília, Secretaria de Estado de Saúde Universidade de Brasília, Instituto de Ciências Biológicas, Departamento de Genética e Morfologia Universidade de Brasília, Instituto de Ciências Biológicas, Departamento de Genética e Morfologia Universidade de Brasília, Instituto de Ciências Biológicas, Departamento de Genética e Morfologia Universidade Católica de Brasília, Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia Universidade Católica de Brasília, Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia Universidade de Brasília, Faculdade de Medicina, Programa de Pós-graduação em Ciências Médicas Universidade de Brasília, Faculdade de Medicina
Assunto::	Mielofibrose Rearranjo cromossômico Heterozigose
Fecha de publicación :	2018
Editorial :	Karger
Citación :	PAULA JUNIOR, Milton Rego de et al. High frequency of copy-neutral loss of heterozygosity in patients with Myelofibrosis. Cytogenet Genome Research, [S. l.], v. 154, n. 2, p. 62–70, 2018. DOI: https://doi.org/10.1159/000487627.
Abstract:	Myelofibrosis is the rarest and most severe type of Philadelphia-negative classical myeloproliferative neoplasms. Although mutually exclusive driver mutations in JAK2, MPL, or CALR that activate JAK-STAT pathway have been related to the pathogenesis of the disease, chromosome abnormalities have also been associated with the phenotype and prognosis of the disease. Here, we report the use of a chromosomal microarray platform consisting of both oligo and SNP probes to improve the detection of chromosome abnormalities in patients with myelofibrosis. Sixteen patients with myelofibrosis were tested, and the results were compared to karyotype analysis. Driver mutations in JAK2, MPL, or CALR were investigated by PCR and MLPA. Conventional cytogenetics revealed chromosome abnormalities in 3 out of 16 cases (18.7%), while chromosomal microarray analysis detected copy-number variations (CNV) or copy-neutral loss of heterozygosity (CN-LOH) alterations in 11 out of 16 (68.7%) patients. These included 43 CN-LOH, 14 deletions, 1 trisomy, and 1 duplication. Ten patients showed multiple chromosomal abnormalities, varying from 2 to 13 CNVs or CN-LOHs. Mutational status for JAK2, CALR, and MPL by MLPA revealed a total of 3/16 (18.7%) patients positive for the JAK2 V617F mutation, 9 with CALR deletion or insertion and 1 positive for MPL mutation. Considering that most of the CNVs identified were smaller than the karyotype resolution and the high frequency of CN-LOHs in our study, we propose that chromosomal microarray platforms that combine oligos and SNP should be used as a first-tier genetic test in patients with myelofibrosis.
metadata.dc.description.unidade:	Faculdade de Medicina (FM)
metadata.dc.description.ppg:	Programa de Pós-Graduação em Ciências Médicas
metadata.dc.relation.publisherversion:	https://karger.com/cgr/article/154/2/62/62453/High-Frequency-of-Copy-Neutral-Loss-of
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