Azevedo Ana Paula, Silva Susana N, Reichert Alice, Lima Fernando, Júnior Esmeraldina, Rueff José
Centre for Toxicogenomics and Human Health (ToxOmics), Genetics, Oncology and Human Toxicology, NOVA Medical School, Faculty of Medical Sciences, NOVA University of Lisbon, 1169-056 Lisbon, Portugal.
Department of Clinical Pathology, Hospital of São Francisco Xavier, West Lisbon Hospital Centre, 1449-005 Lisbon, Portugal.
Biomed Rep. 2017 Oct;7(4):370-376. doi: 10.3892/br.2017.977. Epub 2017 Sep 5.
Myeloproliferative neoplasms (MPNs) result from the malignant transformation of a hematopoietic stem-cell (HSC), leading to abnormal amplification and proliferation of myeloid lineages. Identification of the Janus kinase 2 (JAK2) V617F mutation developed the knowledge of Philadelphia-negative (PN)-MPNs, contributing to and influencing the definition of the phenotype and prognostic impact. Considering the lack of Portuguese epidemiological data, the present study intends to characterize the prevalence of the JAK2 mutation in a PN-MPN versus a control Portuguese population. Caucasian Portuguese PN-MPN patients (n=133) and 281 matched control subjects were investigated. No significant differences were identified between the case and control groups concerning age distribution or smoking habits. Pathology distribution was as follows: 60.2% with essential thrombocythemia (ET), 29.3% with polycythemia vera (PV) and 10.5% with primary myelofibrosis (PMF). A total of 75.0% of patients were positive for the presence of the JAK2 V617F mutation. In addition, the prevalence of PV was 87.2%, ET was 73.4% and PMF was 50.0%. The JAK2 V617F mutation is observed in various MPN phenotypes, and has an increased incidence in ET patients and a decreased incidence in PV patients. These data may contribute to improving the knowledge of the pathophysiology of these disorders, and to a more rational and efficient selection of therapeutic strategies to be adopted, notably because most of the patients are JAK2 V617F negative.
骨髓增殖性肿瘤（MPN）由造血干细胞（HSC）恶性转化引起，导致髓系谱系异常扩增和增殖。Janus激酶2（JAK2）V617F突变的发现拓展了对费城阴性（PN）-MPN的认识，有助于并影响了其表型定义和预后影响。鉴于缺乏葡萄牙的流行病学数据，本研究旨在描述PN-MPN患者与葡萄牙对照人群中JAK2突变的患病率。对133例葡萄牙白种人PN-MPN患者和281例匹配的对照者进行了调查。病例组和对照组在年龄分布或吸烟习惯方面未发现显著差异。病理分布如下：原发性血小板增多症（ET）占60.2%，真性红细胞增多症（PV）占29.3%，原发性骨髓纤维化（PMF）占10.5%。共有75.0%的患者JAK2 V617F突变呈阳性。此外，PV的患病率为87.2%，ET为73.4%，PMF为50.0%。JAK2 V617F突变在多种MPN表型中均有观察到，在ET患者中的发生率增加，在PV患者中的发生率降低。这些数据可能有助于增进对这些疾病病理生理学的了解，并有助于更合理、有效地选择所采用的治疗策略，特别是因为大多数患者JAK2 V617F为阴性。
