Maia Raquel Ciuvalschi, Bonamino Martin Hernan, Robaina Marcela Cristina, Amaral Nathalia, Bonecker Simone, Zalcberg Ilana Renault, Klumb Claudete Esteves
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.
Programa de Carcinogênese Molecular, Coordenação de Pesquisa, INCA, RJ, Brazil; Fundação Oswaldo Cruz, Vice-presidência de Pesquisa e Laboratórios de Referência, RJ, Brazil.
Blood Cells Mol Dis. 2015 Dec;55(4):347-50. doi: 10.1016/j.bcmd.2015.07.013. Epub 2015 Jul 21.
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.
我们报告了一例极为罕见的病例，一名女童在15个月大时出现携带JAK2（Janus激酶2基因）突变（JAK2V617F）的原发性骨髓纤维化（PMF）。对她进行了25年的监测，在此期间她接受了脾脏放疗和重组干扰素α治疗。她在13岁时还因脾肿大、贫血和各种感染性疾病发作而接受了脾切除术。患者的长期病情发展使我们能够证实没有与脾切除术后事件和/或原始细胞转化相关的并发症。据我们所知，这是首例报道的儿童严重JAK2突变型PMF病例。我们提供的证据表明，脾切除术可能为儿童PMF患者带来更好的生活质量和更长的生存期。
