世界卫生组织2016年骨髓增殖性肿瘤及骨髓增生异常综合征/骨髓增殖性肿瘤分类更新解读

Interpretation of updates the 2016 World Health Organization classification of myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms

综合髓系肿瘤中发现的与诊断、预后密切相关的细胞形态学、染色体和基因指标,2016年,世界卫生组织(WHO)针对骨髓增殖性肿瘤(MPN)及骨髓增生异常综合征/骨髓增殖性肿瘤(MDS/MPN)的诊断与分型标准进行了修订。MPN的变化:慢性髓性白血病(CML)加速期的诊断标准新纳入了出现主要路径染色体异常及出现TKI耐药;PV的诊断中强调了基因突变的重要性,降低了对血红蛋白(Hb)、红细胞压积(HCT)、骨髓形态学变化的要求;新分类将PMF分为纤维化早前期(pre PMF)和纤维化明显期(overt PMF);新分类还暂定在髓系或淋系肿瘤伴有嗜酸粒细胞增多中增加伴PCM1-JAK2重排亚型;慢性中性粒细胞白血病(CNL)诊断标准将外周血原始细胞比例<1%改为"罕见(rare)",并强调了CSF3R T618I突变的重要性。MDS/MPN的变化:非典型CML的诊断强调根据形态与特征性的分子标志与CNL鉴别;新分类将暂分型的RARS-T改为确定的新亚型MDS/MPN-RS-T;CMML根据外周血及骨髓原始细胞比例在分期中新增了CMML-0。

Considering numerous advances of morphology3 cytogenetic abnormalities and gene makers which is dosely associated with the diagnosis and prognosis for the myeloid neoplasms, WHO revised the diagnosis and the classification criteria for myeloproliferative neoplasms （MPN） and myelodysplastic/myeloproliferative neoplasms （MDS/MPN）. MPN： The criteria for AP was supplemented by additional parameters as genetic evolution which is usually presented as ＇major route＇ and resistance to TKIs. Revised version lowered criteria for hemoglobin （Hb）, red blood cells deposited （HCT）, bone marrow morphology abnormalities requirements in PV while emphasized the presence of genetic mutations. The new classification identified the PMF as prefibrotic/early stage （prePMF） or overt fibrotic stage （overt PMF）. In the revision, myeloid/lymphoid neoplasms associated with eosinophilia will incorporate the myeloid neoplasm with PCM1 -JAK2 as a new provisional enti~. ＇Myeloblasts rarely observed＇ substituted for ＇the presence of 1% blasts in the PB＇ in the new version criteria for CNL, furthermore, the CSF3R T618I mutation is strongly association with CNL was also defined. MDS/ MPN： aCML should be differentiated from CNL by morphology and molecularly marker. Refractory anemia with ring sideroblasts associated with marked thrombocytosis （RARS-T）, has been accepted as a full entity, now termed MDS/MPN with ring sideroblasts and thrombocytosis in the 2016 revision. The revision incorporates the CMML-0 category into the classification scheme based on blasts counts in PB and BM.