Li Bing, Gale Robert Peter, Xu Zefeng, Qin Tiejun, Song Zhen, Zhang Peihong, Bai Jie, Zhang Lei, Zhang Yue, Liu Jinqin, Huang Gang, Xiao Zhijian
MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin, 300020, China.
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
J Hematol Oncol. 2017 May 2;10(1):99. doi: 10.1186/s13045-017-0472-5.
We studied non-driver mutations in 62 subjects with myeloproliferative neoplasm (MPN)-associated myelofibrosis upon diagnosis, including 45 subjects with primary myelofibrosis (PMF) and 17 with post-polycythemia vera or post-essential thrombocythemia myelofibrosis (post-PV/ET MF). Fifty-eight subjects had ≥1 non-driver mutation upon diagnosis. Mutations in mRNA splicing genes, especially in U2AF1, were significantly more frequent in PMF than in post-PV/ET MF (33 vs. 6%; P = 0.015). There were also striking differences in clonal architecture. These data indicate different genomic spectrums between PMF and post-PV/ET MF.
我们研究了62例诊断时患有骨髓增殖性肿瘤（MPN）相关骨髓纤维化的受试者的非驱动突变，其中包括45例原发性骨髓纤维化（PMF）患者和17例真性红细胞增多症后或原发性血小板增多症后骨髓纤维化（PV/ET MF）患者。58例受试者在诊断时存在≥1个非驱动突变。mRNA剪接基因的突变，尤其是U2AF1基因的突变，在PMF中比在PV/ET MF中更常见（33%对6%；P = 0.015）。克隆结构也存在显著差异。这些数据表明PMF和PV/ET MF之间存在不同的基因组谱。
