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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML

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Autor(es):
Silva, Amanda Goncalves [1, 2] ; Maschietto, Mariana [2, 3] ; Vidal, Daniel Onofre [4, 2, 5] ; Pelicario, Leandro Mota [2, 6] ; Pereira Velloso, Elvira Deolinda Rodrigues [2, 6] ; Lopes, Luiz Fernando [2, 5] ; Krepischi, Ana Cristina [7] ; Rosenberg, Carla [1]
Número total de Autores: 8
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508090 Sao Paulo - Brazil
[2] GACC, Brazilian Cooperat Grp Pediat Myelodysplast Syndr, Sao Jose Dos Campos, SP - Brazil
[3] Univ Sao Paulo, Med Sch FMUSP, Dept Pathol, LIM23, Sao Paulo - Brazil
[4] Barretos Canc Hosp, Mol Oncol Res Ctr, Barretos, SP - Brazil
[5] Barretos Canc Hosp, Pediat Canc Ctr, Barretos, SP - Brazil
[6] Univ Sao Paulo, Dept Hematol, Med Sch FMUSP, Sao Paulo - Brazil
[7] AC Camargo Hosp, Int Ctr Res & Training, Sao Paulo - Brazil
Número total de Afiliações: 7
Tipo de documento: Artigo Científico
Fonte: MEDICAL ONCOLOGY; v. 30, n. 4 DEC 2013.
Citações Web of Science: 2
Resumo

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare clonal hematopoietic diseases presented in the childhood. Both diseases exhibit abnormal karyotype and/or monosomy of chromosome 7 in a subgroup of patients. We screened for copy number variations (CNVs) by array-comparative genomic hybridization (aCHG) the DNA from bone marrow of six MDS and four JMML pediatric patients. Array-CGH analysis identified five cases (50 %) with monosomy 7, disclosing the chromosome 7 monosomy in two patients whose samples could not be evaluated by other methods. We identified CNVs in six patients, one of which displayed loss of LMO2, an oncogene that plays a central role in hematopoietic development. Our results suggest that array-CGH is a reliable and accurate technique to identify genomic alterations in MDS and JMML. (AU)

Processo FAPESP: 08/57887-9 - Instituto Nacional de Oncogenômica
Beneficiário:Luiz Paulo Kowalski
Linha de fomento: Auxílio à Pesquisa - Temático
Processo FAPESP: 09/00898-1 - Desequilíbrios genômicos submicroscópicos em quadros clínicos específicos de anomalias congênitas e deficiência mental
Beneficiário:Carla Rosenberg
Linha de fomento: Auxílio à Pesquisa - Temático