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Silva A.G.,University of Sao Paulo | Silva A.G.,Brazilian Cooperative Group in Pediatric Myelodysplastic Syndrome | Maschietto M.,University of Sao Paulo | Maschietto M.,Brazilian Cooperative Group in Pediatric Myelodysplastic Syndrome | And 11 more authors.
Medical Oncology | Year: 2013

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. © 2013 Springer Science+Business Media New York. Source

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