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