Singh Neha, Sazawal Sudha, Upadhyay Ashish, Chhikara Sunita, Mahapatra Manoranjan, Saxena Renu
Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
Indian J Pathol Microbiol. 2015 Apr-Jun;58(2):187-91. doi: 10.4103/0377-4929.155311.
Somatic mutation in the exon 14 of Janus Kinase 2 gene is an established diagnostic marker in bcr-abl negative myeloproliferative neoplasms, especially primary idiopathic myelofibrosis (PIMF).
Our primary aim was to find out the correlation between the JAK2V617F mutational status and the clinico-hematologic characteristics, as well as the international prognostic scoring system (IPSS) scoring of patients with PIMF.
Clinical and hematologic features were reviewed for 68 patients with primary idiopathic myelofibrosis (PIMF). JAK2V617F mutation status was analyzed by amplification refractory mutation screening-polymerase chain reaction. The patients were further stratified into low, intermediate-1, intermediate-2 and high-risk groups on the basis of IPSS scoring.
The JAK2V617F mutation was detected in 58.8% patients. Univariate analysis of variables at presentation identified that JAK2V617F negative patients were significantly associated with more severe anemia (P = 0.045), younger age (P = 0.008), higher transfusion requirement (P = 0.017), and thrombocytopenia (P = 0.015). Patients who were homozygous for JAK2V617F mutation were associated with thrombocytosis (P = 0.014) and also had higher median total leucocyte count (P = 0.20) than the other groups. No significant correlation was detected between JAK2V617F mutational status and the presence of constitutional symptoms, spleen size, grade of bone marrow fibrosis or prognostic risk stratification of the PIMF patients.
The variations in the prognostic implication of PIMF patients with mutation status as stated by various publications worldwide, reinstates the need for larger prospective studies using standardized JAK2V617F quantification methods as well as estimation of other newer molecular markers to develop deeper insight into various molecular alterations involving PIMF patients in India as well as worldwide.
Janus激酶2基因外显子14中的体细胞突变是bcr-abl阴性骨髓增殖性肿瘤，尤其是原发性特发性骨髓纤维化（PIMF）中已确立的诊断标志物。
我们的主要目的是找出PIMF患者的JAK2V617F突变状态与临床血液学特征以及国际预后评分系统（IPSS）评分之间的相关性。
回顾了68例原发性特发性骨髓纤维化（PIMF）患者的临床和血液学特征。通过扩增阻滞突变系统-聚合酶链反应分析JAK2V617F突变状态。根据IPSS评分将患者进一步分为低、中-1、中-2和高危组。
58.8%的患者检测到JAK2V617F突变。对就诊时变量的单因素分析表明，JAK2V617F阴性患者与更严重的贫血（P = 0.045）、更年轻的年龄（P = 0.008）、更高的输血需求（P = 0.017）和血小板减少症（P = 0.015）显著相关。JAK2V617F突变纯合子患者与血小板增多症相关（P = 0.014），并且其白细胞总数中位数也高于其他组（P = 0.20）。未检测到JAK2V617F突变状态与PIMF患者的体质性症状、脾脏大小、骨髓纤维化程度或预后风险分层之间存在显著相关性。
全球各种出版物所述的PIMF患者突变状态的预后意义存在差异，这再次强调需要使用标准化的JAK2V617F定量方法以及估计其他更新的分子标志物进行更大规模的前瞻性研究，以便更深入地了解印度以及全球涉及PIMF患者的各种分子改变。
