title: Myelodysplastic syndrome with t(5;12)(q31;p12-p13) and eosinophilia: a pediatric case with review of literature.
abstract: OBJECTIVE
  Myelodysplastic syndrome with chromosomal translocation t(5;12)(q31-33;p12-13) and eosinophilia is a new entity recently described. Nine cases have been described in adults. We report the first pediatric case with a long follow-up (7 years).
  
  
  METHODS
  An 8-year-old girl presented with hyperleukocytosis, eosinophilia, and no clinical symptoms. Bone marrow investigations revealed myeloid hyperplasia and clonal chromosomal translocation t(5;12)(q31;p12-13). No treatment was prescribed, but 4 years later the white blood cell count reached 144 X 10(9)/L with immature myeloid cells and splenic enlargement. Hydroxyurea chemotherapy led to a hematopoietic remission. The patient is now 16 years old and well, >7 years after the initial diagnosis.
  
  
  RESULTS
  The association: myelodysplastic syndrome, eosinophilia and translocation t(5;12)(q31-33;p12-13), seems to be a specific hematologic disorder. Study of cases previously reported in the literature shows the most important characteristics of this disease. However, there are still a number of questions about the disease itself (especially its treatment) and the significance of the chromosomal abnormalities.
  
  
  CONCLUSIONS
  This case seems to be the first report of the disease in a child and has had the longest follow-up. Other data should be collected to improve our knowledge of this hematopoietic disorder.
authors.affiliation: Unité d' Hématologie-Oncologie Pédiatrique, Centre Hospitalier Universitaire d' Angers, France.
authors.forename: I
authors.initials: I
authors.lastname: Pellier
authors.forename: P J
authors.initials: PJ
authors.lastname: Le Moine
authors.forename: X
authors.initials: X
authors.lastname: Rialland
authors.forename: S
authors.initials: S
authors.lastname: François
authors.forename: L
authors.initials: L
authors.lastname: Baranger
authors.forename: O
authors.initials: O
authors.lastname: Blanchet
authors.forename: L
authors.initials: L
authors.lastname: Larget-Piet
authors.forename: N
authors.initials: N
authors.lastname: Ifrah
mesh_terms: D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D004802:Eosinophilia / Q000150:complications / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D007621:Karyotyping; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D006918:Hydroxyurea