原发性骨髓纤维化、真性红细胞增多症和原发性血小板增多症的突变谱比较。
Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis.
作者信息
Song Jinming, Hussaini Mohammad, Zhang Hailing, Shao Haipeng, Qin Dahui, Zhang Xiaohui, Ma Zhenjun, Hussnain Naqvi Syeda Mahrukh, Zhang Ling, Moscinski Lynn C
机构信息
Departments of Hematopathology and Laboratory Medicine.
Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL.
出版信息
Am J Clin Pathol. 2017 May 1;147(5):444-452. doi: 10.1093/ajcp/aqw222.
Abstract
OBJECTIVES
To compare the mutational profiles of patients with primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET).
METHODS
Next-generation sequencing results of 75 cases of PMF, 33 cases of PV, and 27 cases of ET were compared.
RESULTS
Mutation rates of ASXL1 and SRSF2 were significantly higher in PMF than in PV or ET. ASXL1 mutations appeared to be more frequently associated with risk of transformation to acute myeloid leukemia than JAK2 or TET2 mutations. The most common mutation-cytogenetic combinations in myeloproliferative neoplasm (MPN) were mutations of JAK2 or ASXL1 with del(20q) and were more common in patients with PMF and PV than in patients with ET. Differences were also found between patients with PMF and PV.
CONCLUSIONS
PMF, PV, and ET show different mutational profiles, which may be helpful in resolving the differential diagnosis between MPNs. Due to the relatively small number of cases and variable testing over time, larger controlled studies are necessary to confirm the findings.
摘要
目的
比较原发性骨髓纤维化（PMF）、真性红细胞增多症（PV）和原发性血小板增多症（ET）患者的突变谱。
方法
比较75例PMF、33例PV和27例ET患者的二代测序结果。
结果
PMF患者中ASXL1和SRSF2的突变率显著高于PV或ET患者。与JAK2或TET2突变相比，ASXL1突变似乎更常与转化为急性髓系白血病的风险相关。骨髓增殖性肿瘤（MPN）中最常见的突变-细胞遗传学组合是JAK2或ASXL1突变伴del(20q)，在PMF和PV患者中比ET患者更常见。PMF和PV患者之间也存在差异。
结论
PMF、PV和ET表现出不同的突变谱，这可能有助于解决MPN之间的鉴别诊断。由于病例数量相对较少且随时间的检测存在差异，需要更大规模的对照研究来证实这些发现。
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