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

Author(s)

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]

Affiliation

^[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

• Document type: Journal article
• Source: MEDICAL ONCOLOGY; v. 30, n. 4 DEC 2013.
• Web of Science Citations: 2

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. (AU)

• FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
• Grantee: Carla Rosenberg
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 08/57887-9 - National Institute of Oncogenomics
• Grantee: Luiz Paulo Kowalski
• Support Opportunities: Research Projects - Thematic Grants