Thrombocythemia and polycythemia in patients younger than 20 years at diagnosis: clinical and biologic features, treatment, and long-term outcome
| Autor: | Giovanna Palumbo, Luciana Teofili, Fiorina Giona, Luigi Maria Larocca, Anna Maria Testi, Giuseppe Leone, Maria Luisa Moleti, Angela Amendola, Maria Gabriella Mazzucconi, Patrizia Pignoloni, Robin Foà, Maurizio Martini, Sonia Maria Orlando, Sara Capodimonti, Mauro Nanni |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Immunology Population Polycythemia Biochemistry Gastroenterology Young Adult Pregnancy hemic and lymphatic diseases Internal medicine Medicine Humans Myelofibrosis education Child Thrombopoietin Retrospective Studies Thrombopoietin receptor Thrombocytosis education.field_of_study Janus kinase 2 biology business.industry Pregnancy Complications Hematologic Pregnancy Outcome Infant Retrospective cohort study Cell Biology Hematology Janus Kinase 2 medicine.disease Leukemia Settore MED/15 - MALATTIE DEL SANGUE Treatment Outcome Amino Acid Substitution Child Preschool Mutation biology.protein Female business Receptors Thrombopoietin Follow-Up Studies Thrombocythemia Essential |
| Popis: | 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). JAK2V617F mutations were present in 47.5% of ST and in no HT. The MPLS505A mutation was detected in 15/16 HT patients and in no ST (P < .00001). The JAK2V617F 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. |
| Databáze: | OpenAIRE |
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