Clinical and molecular features of patients with prefibrotic primary myelofibrosis previously diagnosed as having essential thrombocythemia in Japan
Clinical and molecular features of patients with prefibrotic primary myelofibrosis previously diagnosed as having essential thrombocythemia in Japan
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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
DOI：
10.1111/ejh.13236
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发表时间：
2019
影响因子：
3.1
通讯作者：
Komatsu Norio
中科院分区：
文献类型：
--
作者：
Edahiro Yoko;Araki Marito;Inano Tadaaki;Ito Masafumi;Morishita Soji;Misawa Kyohei;Fukuda Yasutaka;Imai Misa;Ohsaka Akimichi;Komatsu Norio
纤维化前/早期原发性骨髓纤维化（pre-PMF）和原发性血小板增多症（ET）表现出不同的骨髓特征;然而，这并不总是容易客观判断，使得病理学家的区分往往不理想。在WHO 2008标准中，PMF前未定义为PMF的亚组;因此，受影响的患者被误诊为ET的风险较高。在这项研究中，我们研究了那些以前诊断为ET在Japanes. Methods的PMF前患者的患病率，我们审查了骨髓标本和临床和分子参数的患者谁是以前诊断为ET的WHO 2008 criteria.ResultsAmong 107 ET患者，13例患者被重新定义为具有前PMF。与真正的ET患者相比，PMF前患者表现出更高的APL突变频率和血小板计数增加。分子生物学分析显示高危分子突变的频率，如ASXL 1，EZH 2，和SRSF 2，显着增加在pre-PMF患者比那些在真正的ET patients.ConclusionThese结果表明重新检查临床记录的价值，诊断为ET患者的WHO 2008标准，并强调，充分检查患者的骨髓是至关重要的pre-PMF和ET的准确诊断。
ObjectivePrefibrotic/early primary myelofibrosis (pre‐PMF) and essential thrombocythemia (ET) exhibited different features of bone marrow; however, this is not always easy to judge objectively, making pathologists’ distinction often suboptimal. In the WHO 2008 criteria, pre‐PMF was not defined as a subgroup of PMF; therefore, affected patients were at a higher risk of misdiagnosis with ET. In this study, we examined the prevalence of pre‐PMF patients among those previously diagnosed with ET in Japan.MethodWe reviewed bone marrow specimens and clinical and molecular parameters of patients who were previously diagnosed with ET by the WHO 2008 criteria.ResultsAmong 107 ET patients, 13 patients were redefined as having pre‐PMF. Pre‐PMF patients exhibited a higher frequency ofMPLmutation and increased platelet counts compared to true ET patients. Molecular analysis revealed the frequencies of high‐risk molecular mutations, such asASXL1,EZH2, andSRSF2, were significantly increased in pre‐PMF patients than those in true ET patients.ConclusionThese results demonstrated the value of reexamining clinical records for patients diagnosed with ET by the WHO 2008 criteria and emphasized that adequate examinations of patients’ bone marrow are crucial for an accurate diagnosis of pre‐PMF and ET.
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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：
11.4
作者：
Palandri, F.;Latagliata, R.;Vianelli, N.
通讯作者：
Vianelli, N.
影响因子：
2.1
作者：
Barosi, Giovanni
通讯作者：
Barosi, Giovanni
影响因子：
20.3
作者：
Tefferi, Ayalew;Guglielmelli, Paola;Vannucchi, Alessandro M.
通讯作者：
Vannucchi, Alessandro M.