Rationale for revision and proposed changes of the WHO diagnostic criteria for polycythemia vera, essential thrombocythemia and primary myelofibrosis.
Rationale for revision and proposed changes of the WHO diagnostic criteria for polycythemia vera, essential thrombocythemia and primary myelofibrosis.
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DOI：
10.1038/bcj.2015.64
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发表时间：
2015-08-14
影响因子：
12.8
通讯作者：
Tefferi A
中科院分区：
文献类型：
--
作者：
Barbui T;Thiele J;Vannucchi AM;Tefferi A
2001/2008年世界卫生组织（WHO）为基础的真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）的诊断标准最近进行了修订，以适应有关疾病特异性突变的新信息，并强调区分形态特征。在这种情况下，比较前世界卫生组织骨髓增生性肿瘤（MPN）分类的第一个主要诊断标准似乎是合理的，然后将重点放在已经讨论过的细节上，并将为即将修订的诊断指南提出建议。在PV中，特征性骨髓（BM）形态学作为三个主要诊断标准之一，允许降低血红蛋白/红细胞压积的诊断阈值，这是另一个主要标准，男性为16.5 g/dl/49%，女性为16 g/dl/48%。JAK2突变的存在仍然是PV的第三个主要诊断标准。血清促红细胞生成素水平低于正常是目前PV的唯一次要标准，用于捕获jak2未突变的病例。在ET和PMF中，除了JAK2和MPL外，现在被认为确认克隆性和特异性诊断的突变还包括CALR。同样在2015年讨论的修订版中，明显纤维化性PMF与早期/预纤维化性PMF明显不同，每种PMF变体现在都包括单独的诊断标准列表。这些变化的主要原理是增强所谓的隐藏PV和jak2突变ET之间以及ET和纤维化前早期PMF之间的区别。提出的变化也强调了互补的作用，以及突变分析在形态学诊断中的局限性。另一方面，未来可能会发现新的生物标记物，根据BM的组织学模式和相应的临床特征来增强对不同MPN亚型的区分。
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.