title: Myelodysplastic syndromes in childhood: report of 49 patients from a French multicentre study. French Society of Paediatric Haematology and Immunology.
abstract: We describe the clinical, cytological and cytogenetic features of 49 cases of myelodysplastic syndromes (MDS) in childhood. Three children had received prior cytotoxic treatment (group 1); all of these had cytogenetic abnormalities and died shortly after diagnosis. 22 children had constitutional anomalies (group 2). The remaining 24 MDS were considered as 'primary' (group 3). Hypoplastic marrow was found in nine cases, and only 53% of the MDS fitted the adult FAB classification. Transformation to AML occurred in 11 cases, development of aplastic anaemia in three cases, and spontaneous remission in one case each of RA and RAEB. Differences were observed between groups 2 and 3 in terms of mean age at diagnosis (11.1 months v 5 years), rate of cytogenetic anomalies (15% v 38%) and rate of progression towards acute leukaemia (13% v 29%). In group 2, all the fur girls studied exhibited a polyclonal pattern of X-inactivation, which suggests that MDS may be only the haematological expression of an embryological defect with different target tissues. This study suggests that some MDS in childhood can exhibit particular features such as congenital anomalies associated with MDS, bone marrow hypoplasia, polyclonality, and spontaneous remission. It emphasizes that the FAB classification is not adequate for children and addresses the question of whether these MDS are always malignant diseases.
authors.forename: B
authors.initials: B
authors.lastname: Bader-Meunier
authors.forename: F
authors.initials: F
authors.lastname: Miélot
authors.forename: G
authors.initials: G
authors.lastname: Tchernia
authors.forename: J
authors.initials: J
authors.lastname: Buisine
authors.forename: G
authors.initials: G
authors.lastname: Delsol
authors.forename: E
authors.initials: E
authors.lastname: Duchayne
authors.forename: S
authors.initials: S
authors.lastname: Lemerle
authors.forename: G
authors.initials: G
authors.lastname: Leverger
authors.forename: L
authors.initials: L
authors.lastname: de Lumley
authors.forename: A M
authors.initials: AM
authors.lastname: Manel
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D005602:France; D006801:Humans; D007621:Karyotyping; D008297:Male; D009190:Myelodysplastic Syndromes / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D012075:Remission, Spontaneous; D012189:Retrospective Studies