文章：

修订世界卫生组织真性红细胞增多症、原发性血小板增多症和原发性骨髓纤维化诊断标准的理由及拟议变更

Rationale for revision and proposed changes of the WHO diagnostic criteria for polycythemia vera, essential thrombocythemia and primary myelofibrosis

原文发布日期：2015-08-14

DOI: 10.1038/bcj.2015.64

类型: Review

开放获取: 是

英文摘要：

The 2001/2008 World Health Organization (WHO)-based diagnostic criteria for polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) were recently revised to accomodate new information on disease-specific mutations and underscore distinguishing morphologic features. In this context, it seems to be reasonable to compare first major diagnostic criteria of the former WHO classifications for myeloproliferative neoplasm (MPN) and then to focus on details that have been discussed and will be proposed for the upcoming revision of diagnostic guidelines. In PV, a characteristic bone marrow (BM) morphology was added as one of three major diagnostic criteria, which allowed lowering of the hemoglobin/hematocrit threshold for diagnosis, which is another major criterion, to 16.5 g/dl/49% in men and 16 g/dl/48% in women. The presence of a JAK2 mutation remains the third major diagnostic criterion in PV. Subnormal serum erythropoietin level is now the only minor criterion in PV and is used to capture JAK2-unmutated cases. In ET and PMF, mutations that are considered to confirm clonality and specific diagnosis now include CALR, in addition to JAK2 and MPL. Also in the 2015 discussed revision, overtly fibrotic PMF is clearly distinguished from early/prefibrotic PMF and each PMF variant now includes a separate list of diagnostic criteria. The main rationale for these changes was to enhance the distinction between so-called masked PV and JAK2-mutated ET and between ET and prefibrotic early PMF. The proposed changes also underscore the complementary role, as well as limitations of mutation analysis in morphologic diagnosis. On the other hand, discovery of new biological markers may probably be expected in the future to enhance discrimination of the different MPN subtypes in accordance with the histological BM patterns and corresponding clinical features.

摘要翻译： 

2001/2008版世界卫生组织（WHO）关于真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）的诊断标准近期被修订，旨在纳入疾病特异性突变的新信息并强调具有鉴别意义的形态学特征。在此背景下，首先比较既往骨髓增殖性肿瘤（MPN）WHO分类的主要诊断标准，进而聚焦于经讨论且拟纳入即将更新的诊断指南的细节内容，似乎是合理的。在PV诊断中，特征性骨髓形态学被列为三大主要诊断标准之一，这使得诊断所需的血红蛋白/红细胞比容阈值（另一主要标准）得以降低——男性降至16.5克/分升/49%，女性降至16克/分升/48%。JAK2突变仍是PV的第三项主要诊断标准。血清促红细胞生成素水平低于正常现作为PV的唯一次要标准，用于捕获JAK2未突变病例。在ET和PMF诊断中，除JAK2和MPL外，确认克隆性及特异性诊断的突变现亦包含CALR。在2015年讨论的修订版中，显性纤维化PMF与早期/纤维化前期PMF被明确区分，每种PMF变体现均设有独立的诊断标准清单。这些变更的主要目的在于增强“隐匿性PV”与JAK2突变ET、以及ET与纤维化前期早期PMF的鉴别。拟议的修订还强调了突变分析在形态学诊断中的互补作用及其局限性。另一方面，未来可能发现新的生物学标志物，有望结合骨髓组织学模式及相应临床特征，进一步提升对不同MPN亚型的鉴别能力。

原文链接：

Rationale for revision and proposed changes of the WHO diagnostic criteria for polycythemia vera, essential thrombocythemia and primary myelofibrosis