Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

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.Univ São Paulo, Fac Med, Dept Hematol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Hematol, São Paulo, BrazilUniv São Paulo, Fac Med, Dept Hematol, Lab Citogenet, São Paulo, BrazilUniversidade Federal de São Paulo, Inst Oncol Pediat, São Paulo, BrazilUniv Estadual Paulista, Fac Med Botucatu, Dept Clin Med, Botucatu, SP, BrazilHosp Canc Barretos, Barretos, SP, BrazilCtr Tratamento Fabiana Macedo de Morais, Grp Assistencia Crianca Canc, Grp Cooperat Brasileiro Sindrome Mielodisplas Ped, Sao Jose Dos Campos, SP, BrazilUniversidade Federal de São Paulo, Dept Hematol, São Paulo, BrazilUniversidade Federal de São Paulo, Inst Oncol Pediat, São Paulo, BrazilWeb of Scienc