Thrombocythemia and polycythemia in patients younger than 20 years at diagnosis: clinical and biologic features, treatment, and long-term outcome

Fiorina Giona, Luciana Teofili, Maria Luisa Moleti, Maurizio Martini, Giovanna Palumbo, Angela Amendola, Maria Gabriella Mazzucconi, Anna Maria Testi, Patrizia Pignoloni, Sonia Maria Orlando, Sara Capodimonti, Mauro Nanni, Marinella Nanni, Giuseppe Leone, Luigi Maria Larocca, Robin Foà

Risultato della ricerca: Contributo in rivistaArticolo in rivista

54 Citazioni (Scopus)


Sixty-four patients < 20 years of age, investigated for a suspicion of Philadelphia-negative myeloproliferative disease (MPD), were retrospectively evaluated to characterize the different forms and to examine the treatments used and long-term outcome. JAK2 mutations, endogenous erythroid colony growth, and clonality were investigated in 51 children. Mutations of thrombopoietin, the thrombopoietin receptor (MPL), and the erythropoietin receptor and mutations of other genes involved in the pathogenesis of MPD were investigated in JAK2 wild-type patients. Based on our criteria for childhood MPD, we identified 34 patients with sporadic thrombocythemia (ST), 16 with hereditary thrombocytosis (HT), 11 with sporadic polycythemia (SP), and 3 with hereditary polycythemia (HP). JAK2(V617F) mutations were present in 47.5% of ST and in no HT. The MPL(S505A) mutation was detected in 15/16 HT patients and in no ST (P < .00001). The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. Children with ST received more cytoreductive drugs than those with HT (P = .0006). After a median follow-up of 124 months, no patient had developed leukemia or myelofibrosis and 5% had thrombosis; the miscarriage rate in thrombocythemic patients was 14%. The low complication rate in our population suggests that children with MPD may be managed by tailored approaches.
Lingua originaleEnglish
pagine (da-a)2219-2227
Numero di pagine9
Stato di pubblicazionePubblicato - 2012


  • Adolescent
  • Amino Acid Substitution
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Janus Kinase 2
  • Male
  • Mutation
  • Polycythemia
  • Pregnancy
  • Pregnancy Complications, Hematologic
  • Pregnancy Outcome
  • Receptors, Thrombopoietin
  • Retrospective Studies
  • Thrombocythemia, Essential
  • Thrombocytosis
  • Treatment Outcome
  • Young Adult


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