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. (C) 2002 Elsevier B.V. All rights reserved.Universidade Federal de São Paulo, EPM, Dept Morphol, Discipline Genet, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, EPM, GRAACC, Inst Oncol Pediat, BR-04023900 São Paulo, BrazilHosp AC Carmargo Fundacao Antonio Prudente, Dept Pediat, São Paulo, BrazilUniv Estadual Paulista Julio Mesquita Filho, Fac Med, Dept Hematol, Botucatu, SP, BrazilUniversidade Federal de São Paulo, EPM, Dept Morphol, Discipline Genet, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, EPM, GRAACC, Inst Oncol Pediat, BR-04023900 São Paulo, BrazilWeb of Scienc