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Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country BJMBR
Velloso,E.D.R.P.; Chauffaille,M.L.; Peliçario,L.M.; Tanizawa,R.S.S.; Toledo,S.R.C.; Gaiolla,R.D.; Lopes,L.F..
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...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Childhood myelodysplastic syndromes; Juvenile myelomonocytic leukemia; Cytogenetics; Karyotype; Diagnosis.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013000100085
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Evaluation of chromosomal abnormalities by cIg-FISH and association with proliferative and apoptotic indexes in multiple myeloma BJMBR
Linardi,C.C.G.; Martinez,G.; Velloso,E.D.R.P.; Leal,A.M.; Kumeda,C.A.; Buccheri,V.; Azevedo,R.S.; Peliçario,L.M.; Dorlhiac-Llacer,P..
Eighty-six newly diagnosed multiple myeloma (MM) patients from a public hospital of São Paulo (Brazil) were evaluated by cIg-FISH for the presence of del(13)(q14), t(4;14)(p16.3;q32) and del(17)(p13). These abnormalities were observed in 46.5, 9.3, and 7.0% of the patients, respectively. In order to identify the possible role of del(13)(q14) in the physiopathology of MM, we investigated the association between this abnormality and the proliferative and apoptotic indexes of plasma cells. When cases demonstrating t(4;14)(p16.3;q32) and del(17)(p13) were excluded from the analysis, we observed a trend towards a positive correlation between the proportion of cells carrying del(13)(q14) and plasma cell proliferation, determined by Ki-67 expression (r = 0.23, P...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Multiple myeloma; Cell proliferation; Apoptosis; Prognosis; Fluorescence in situ hybridization.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001100012
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