Clinical impacts of the mutational spectrum in Japanese patients with primary myelofibrosis
Clinical impacts of the mutational spectrum in Japanese patients with primary myelofibrosis
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日本原发性骨髓纤维化患者突变谱的临床影响
DOI：
10.1007/s12185-020-03054-x
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发表时间：
2021
影响因子：
2.1
通讯作者：
Komatsu Norio
中科院分区：
文献类型：
--
作者：
Morishita Soji;Ochiai Tomonori;Misawa Kyohei;Osaga Satoshi;Inano Tadaaki;Fukuda Yasutaka;Edahiro Yoko;Ohsaka Akimichi;Araki Marito;Komatsu Norio
原发性骨髓纤维化（PMF）患者的预后比其他亚型的骨髓增生性肿瘤（MPN）患者差。为了研究基因突变与日本PMF患者预后之间的关系，我们利用靶重测序平台分析了位于14个MPN相关基因（CSF 3R，MPL，JAK 2，CALR，DNMT 3A，TET 2，EZH 2，ASXL 1，IDH 1/2，SRSF 2，SF 3B 1，U2 AF 1和TP 53）的72个区域的突变。在我们的队列中，ASXL 1突变在显性和纤维化前PMF患者中比其他突变更常见。显性PMF患者ASXL 1突变频率略高于纤维化前PMF患者（44.6% vs 25.0%，FDR = 0.472）。决策树分类算法显示ASXL 1、EZH 2和SRSF 2突变与明显PMF的不良预后相关。携带ASXL 1、EZH 2或SRSF 2突变的患者的总生存期显著短于不携带这些突变的患者（p= 0.03）。这些结果表明，如西方国家报道的那样，MIPSS 70适用于日本PMF患者，ASXL 1、EZH 2和SRSF 2突变可用作预后不良的替代标志物。
Patients with primary myelofibrosis (PMF) have a poorer prognosis than those with other subtypes of myeloproliferative neoplasms (MPNs). To investigate the relationship between gene mutations and the prognosis of Japanese PMF patients, we analyzed mutations in 72 regions located in 14 MPN-relevant genes (CSF3R,MPL,JAK2,CALR,DNMT3A,TET2,EZH2,ASXL1,IDH1/2,SRSF2,SF3B1,U2AF1, andTP53) utilizing a target resequencing platform. In our cohort,ASXL1mutations were more frequently detected in both overt and prefibrotic PMF patients than other mutations. The frequency ofASXL1mutations was slightly higher among overt PMF patients than among prefibrotic PMF patients (44.6% vs 25.0%, FDR = 0.472). Decision tree classification algorithms revealed thatASXL1,EZH2,andSRSF2mutations were associated with a poor prognosis for overt PMF. Overall survival was significantly shorter in patients harboringASXL1,EZH2, orSRSF2mutations than in those without these mutations (p= 0.03). These results suggest that, as reported in Western countries, MIPSS70 is applicable to Japanese PMF patients andASXL1,EZH2, andSRSF2mutations may be utilized as surrogate markers of a poor prognosis.
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日本先前诊断为原发性血小板增多症的纤维化前期原发性骨髓纤维化患者的临床和分子特征
影响因子：
3.1
作者：
Edahiro Yoko;Araki Marito;Inano Tadaaki;Ito Masafumi;Morishita Soji;Misawa Kyohei;Fukuda Yasutaka;Imai Misa;Ohsaka Akimichi;Komatsu Norio
通讯作者：
Komatsu Norio
日本骨髓增生性肿瘤患者的体细胞 CALR 突变。
DOI：
--
发表时间：
2015
期刊：
影响因子：
--
作者：
Sugiyama A.;Yujiri T.;Tanaka M.,Tanaka Y.;Nakamura Y.;Tanizawa Y
通讯作者：
Tanizawa Y
影响因子：
12.8
作者：
Tefferi, Ayalew;Wassie, Emnet A.;Passamonti, Francesco
通讯作者：
Passamonti, Francesco
影响因子：
20.3
作者：
Rampal, Raajit;Al-Shahrour, Fatima;Levine, Ross L.
通讯作者：
Levine, Ross L.
影响因子：
45.3
作者：
Guglielmelli, Paola;Lasho, Terra L.;Tefferi, Ayalew
通讯作者：
Tefferi, Ayalew