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

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]

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

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