title: An unusual long-term outcome of a child with primary myelofibrosis harboring a JAK2 mutation.
abstract: We report an extremely rare case of a female child who presented the onset of primary myelofibrosis (PMF) harboring JAK2 (Janus Kinase 2 gene) mutation (JAK2V617F) when she was 15 months old. She was monitored over 25 years, a period in which she was treated with spleen radiotherapy and recombinant interferon α. She also underwent splenectomy when she was 13 years old, due to massive splenomegaly, anemia and various infection disease episodes. The longstanding evolution of the patient enabled us to verify that there were no complications related to post-splenectomy events and/or blast transformation. To the best of our knowledge, this is the first reported case of severe PMF with JAK2 mutation in a child. We provide evidence that a better quality of life and long survival in pediatric PMF may be provided by splenectomy.
authors.affiliation: Laboratório de Hemato-Oncologia Celular e Molecular, Programa de Hemato-Oncologia Molecular, Coordenação de Pesquisa, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil; Serviço de Hematologia, Hospital do Câncer I, INCA, RJ, Brazil. Electronic address: rcmaia@inca.gov.br.
authors.forename: Raquel Ciuvalschi
authors.initials: RC
authors.lastname: Maia
authors.affiliation: Programa de Carcinogênese Molecular, Coordenação de Pesquisa, INCA, RJ, Brazil; Fundação Oswaldo Cruz, Vice-presidência de Pesquisa e Laboratórios de Referência, RJ, Brazil.
authors.forename: Martin Hernan
authors.initials: MH
authors.lastname: Bonamino
authors.affiliation: Laboratório de Hemato-Oncologia Celular e Molecular, Programa de Hemato-Oncologia Molecular, Coordenação de Pesquisa, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil.
authors.forename: Marcela Cristina
authors.initials: MC
authors.lastname: Robaina
authors.affiliation: Laboratório de Biologia Molecular, Centro de Transplante de Medula Óssea, INCA, RJ, Brazil.
authors.forename: Nathalia
authors.initials: N
authors.lastname: Amaral
authors.affiliation: Laboratório de Biologia Molecular, Centro de Transplante de Medula Óssea, INCA, RJ, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Bonecker
authors.affiliation: Laboratório de Biologia Molecular, Centro de Transplante de Medula Óssea, INCA, RJ, Brazil.
authors.forename: Ilana Renault
authors.initials: IR
authors.lastname: Zalcberg
authors.affiliation: Laboratório de Hemato-Oncologia Celular e Molecular, Programa de Hemato-Oncologia Molecular, Coordenação de Pesquisa, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil; Serviço de Hematologia, Hospital do Câncer I, INCA, RJ, Brazil.
authors.forename: Claudete Esteves
authors.initials: CE
authors.lastname: Klumb
mesh_terms: D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D053614:Janus Kinase 2 / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D055728:Primary Myelofibrosis / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D053614:Janus Kinase 2
keywords: Children; Idiopathic myelofibrosis; JAK2 mutation; Outcome; Primary myelofibrosis