Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome.
We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The cytogenetic alterations were 4q deletion and the Philadelphia (Ph) chromosome which appeared at different moments of the disease. One patient showed the Ph chromosome at disease transformation and the other at diagnosis. The different breakpoints at 4q and the presence of Ph could be a marker of this form of MDS. The association of clinical and hematological findings suggests the possibility of a new group of pediatric MDS.
Dalla Torre
Cristiane Arruda
CA
Discipline of Genetics, Department of Morphology, Universidade Federal de São Paulo UNIFESP/EPM, 740, 04023-900 São Paulo, SP, Rua Botucata, Brazil.
de Martino Lee
Maria Lucia
ML
Yoshimoto
Maisa
M
Lopes
Luiz Fernando
LF
Melo
Ligia Niero
LN
Caminada de Toledo
Silvia Regina
SR
Duffles Andrade
Joyce Anderson
JA
D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D020732:Cytogenetic Analysis; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D009190:Myelodysplastic Syndromes / Q000145:classification / Q000235:genetics*; D010677:Philadelphia Chromosome