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Title: | Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML |
Authors: | SILVA, Amanda Goncalves; MASCHIETTO, Mariana; VIDAL, Daniel Onofre; PELICARIO, Leandro Mota; VELLOSO, Elvira Deolinda Rodrigues Pereira; LOPES, Luiz Fernando; KREPISCHI, Ana Cristina; ROSENBERG, Carla |
Citation: | MEDICAL ONCOLOGY, v.30, n.4, article ID 734, 5p, 2013 |
Abstract: | 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. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - ODS/03 |
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