Lyu X D, Li Y W, Guo Z, Xin Y P, Hu J Y, Fan R H, Song Y P
the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou 450008, China.
The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450014, China.
Zhonghua Nei Ke Za Zhi. 2020 Jan 1;59(1):35-39. doi: 10.3760/cma.j.issn.0578-1426.2020.01.006.
To explore the relationship between driver gene mutation (JAK2, MPL and CALR) and disease type in BCR-ABL negative myeloproliferative neoplasms (MPNs) including primary myeloid fibrosis (PMF), essential thrombocytosis (ET) and polycythemia vera (PV). A total of 32 MPN related genes were detected by high-throughput sequencing in 156 MPN patients. The relationships between disease type and patients' general performance, the characteristics of driver gene mutations, concomitant gene mutations were analyzed. In the population with JAK2 V617F positive mutation, the proportion of patients over 60 years old in PMF was higher than that with ET or PV. By high-throughput sequencing, 22 concomitant gene mutations were detected in 46 patients with JAK2, MPL or CALR mutations, including 4 (8.3%) in PV, 20 (29.4%) in ET, and 22 (55.0%) in PMF. DNMT3A mutation was detected only in patients with PV, while splicing factor related genes including SF3B1, SRSF2 and U2AF1 were only accompanied by PMF. According to the variation allele frequency (VAF) value of JAK2 V617F mutation, the VAF value associated with PV was the highest (68.15%), followed by PMF (37.7%) and ET (23%). However, there were significant differences in the incidence of JAK2 V617F homozygous among 3 different diseases. In patients with JAK2 mutation, the proportion of other gene mutations in PV and ET was significantly lower than that in PMF. Under the condition of common driver gene mutations (JAK2, MPL and CALR), patients' age, VAF value and homozygous state, concomitant gene mutations are closely related to different disease type. These correlations help to improve clinical understanding of disease characteristics and risk assessment.
为探讨驱动基因突变（JAK2、MPL和CALR）与BCR-ABL阴性骨髓增殖性肿瘤（MPN）（包括原发性骨髓纤维化（PMF）、真性红细胞增多症（PV）和原发性血小板增多症（ET））疾病类型之间的关系。采用高通量测序技术对156例MPN患者进行32个与MPN相关基因的检测。分析疾病类型与患者一般情况、驱动基因突变特征、伴随基因突变之间的关系。在JAK2 V617F阳性突变人群中，PMF患者中60岁以上患者的比例高于ET或PV患者。通过高通量测序，在46例JAK2、MPL或CALR突变患者中检测到22种伴随基因突变，其中PV患者4例（8.3%），ET患者20例（29.4%），PMF患者22例（55.0%）。仅在PV患者中检测到DNMT3A突变，而包括SF3B1、SRSF2和U2AF1在内的剪接因子相关基因仅与PMF相伴。根据JAK2 V617F突变的变异等位基因频率（VAF）值，与PV相关的VAF值最高（68.15%），其次是PMF（37.7%）和ET（23%）。然而，3种不同疾病中JAK2 V617F纯合子的发生率存在显著差异。在JAK2突变患者中，PV和ET中其他基因突变的比例显著低于PMF。在常见驱动基因突变（JAK2、MPL和CALR）的情况下，患者的年龄、VAF值和纯合状态、伴随基因突变与不同疾病类型密切相关。这些相关性有助于提高临床对疾病特征的认识和风险评估。
