Patil Vinod R, Chandrakala S, Mantri Shruti, Patil Rajesh, Wasekar Nilesh, Jijina Farah
Superspeciality Medical Officer, Department of Clinical Hematology, Seth G. S. Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.
South Asian J Cancer. 2019 Jul-Sep;8(3):186-188. doi: 10.4103/sajc.sajc_276_18.
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis. We did mutation profile of 50 patients of PMF and tried to correlate it with initial clinical presentation of these patients.
All new and follow up patients who were diagnosed as PMF based on WHO 2016 definition of PMF were included. Mutation profile of these patients including JAK2 V617F, JAK2 exon 12, CALR and MPL mutations was done and all clinical, demographic and laboratory details were recorded.
Total 50 patients were enrolled out of which 29 were males and 21 were females. Out of these patients, 32 (64%) were JAK2 positive, 13 (26%) were CALR positive, 1 (2%) were MPL positive and 4 (8%) were triple negative. As compared to JAK2+ve patients and triple negative group, CALR positive patients were younger, had lower total leucocyte count, larger spleen size, lower dynamic international prognostic scoring system (DIPSS) score and higher grade of fibrosis of marrow.
This study depicts that incidence of JAK2 and CALR mutations in Indian PMF patients is fairly similar to that in rest of the world. CALR positive patients have better clinical parameters at presentation and have better prognosis as compared to JAK2 positive patients.
原发性骨髓纤维化（PMF）是一种骨髓增殖性肿瘤（MPN），其特征为巨核细胞异常增殖、骨髓纤维化和髓外造血。我们对50例PMF患者进行了突变谱分析，并试图将其与这些患者的初始临床表现相关联。
纳入所有根据世界卫生组织2016年PMF定义诊断为PMF的新患者和随访患者。对这些患者进行了包括JAK2 V617F、JAK2外显子12、CALR和MPL突变在内的突变谱分析，并记录了所有临床、人口统计学和实验室细节。
共纳入50例患者；其中29例为男性，21例为女性。在这些患者中，32例（64%）JAK2阳性，13例（26%）CALR阳性，1例（2%）MPL阳性，4例（8%）三阴性。与JAK2阳性患者和三阴性组相比，CALR阳性患者年龄更小，白细胞总数更低，脾脏更大，动态国际预后评分系统（DIPSS）得分更低，骨髓纤维化程度更高。
本研究表明，印度PMF患者中JAK2和CALR突变的发生率与世界其他地区相当相似。与JAK2阳性患者相比，CALR阳性患者在就诊时具有更好的临床参数和更好的预后。
