Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/35720
Title: Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country
Authors: Velloso, Elvira Deolinda Rodrigues Pereira
Chauffaille, Maria de Lourdes [UNIFESP]
Pelicario, L. M.
Tanizawa, Roberta Sandra da Silva
Toledo, Silvia Regina Caminada de [UNIFESP]
Gaiolla, R. D.
Lopes, L. F.
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Hosp Canc Barretos
Ctr Tratamento Fabiana Macedo de Morais
Keywords: Childhood myelodysplastic syndromes
Juvenile myelomonocytic leukemia
Cytogenetics
Karyotype
Diagnosis
Issue Date: 1-Jan-2013
Publisher: Assoc Bras Divulg Cientifica
Citation: Brazilian Journal of Medical and Biological Research. São Paulo: Assoc Bras Divulg Cientifica, v. 46, n. 1, p. 85-90, 2013.
Abstract: Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.
URI: http://repositorio.unifesp.br/handle/11600/35720
ISSN: 0100-879X
Other Identifiers: http://dx.doi.org/10.1590/1414-431X20122449
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