Advanced search
Start date
Betweenand
Related content
(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

Full text
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]
Total Authors: 8
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
Total Affiliations: 7
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