Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelotibrosis: recommendations from an ad hoc international expert panel
Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelotibrosis: recommendations from an ad hoc international expert panel
复制标题
DOI：
10.1182/blood-2007-04-083501
复制
发表时间：
2007-08-15
期刊：
影响因子：
20.3
通讯作者：
Vardiman, James W.
中科院分区：
文献类型：
--
作者：
Tefferi, Ayalew;Thiele, Juergen;Vardiman, James W.
Janus激酶2突变JAK 2617 V> F是骨髓肿瘤特异性的;它的存在排除了继发性红细胞增多症、血小板增多症或其他原因引起的骨髓纤维化。此外，JAK 2617 V>F或JAK 2外显子12突变几乎存在于所有真性红细胞增多症（PV）患者中，而JAK 2617 V>F也发生在约一半的原发性血小板增多症（ET）或原发性骨髓纤维化（PMF）患者中。因此，JAK 2突变筛查有望成为PV的决定性诊断检测，同时可作为ET和PMF诊断的组织学补充;分子检测和组织学检查的结合也有助于诊断与边缘性血小板增多相关的ET。因此，有必要修订世界卫生组织（WHO）现行PV、ET和PMF的诊断标准; JAK 2突变分析应列为PV诊断的主要标准，ET诊断的血小板计数阈值可从600 × 10（9）/L降至450 × 10（9）/L。本文件由骨髓增生性疾病的病理学家和临床研究者组成的国际专家小组编写;随后提交给修订世卫组织髓样肿瘤分类的临床咨询委员会成员，他们认可了本文件并建议世卫组织采用。
The Janus kinase 2 mutation, JAK2617V> F, is myelold neoplasm-specific; its presence excludes secondary polycythemia, thrombocytosis, or bone marrow fibrosis from other causes. Furthermore, JAK2617V>F or a JAK2 exon 12 mutation is present in virtually all patients with polycythemia vera (PV), whereas JAK2617V>F also occurs in approximately half of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Therefore, JAK2 mutation screening holds the promise of a decisive diagnostic test in PV while being complementary to histology for the diagnosis of ET and PMF; the combination of molecular testing and histologic review should also facilitate diagnosis of ET associated with borderline thrombocytosis. Accordingly, revision of the current World Health Organization (WHO) diagnostic criteria for PV, ET, and PMF is warranted; JAK2 mutation analysis should be listed as a major criterion for PV diagnosis, and the platelet count threshold for ET diagnosis can be lowered from 600 to 450 x 10(9)/L. The current document was prepared by an international expert panel of pathologists and clinical investigators in myeloproliferative disorders; it was subsequently presented to members of the Clinical Advisory Committee for the revision of the WHO Classification of Myeloid Neoplasms, who endorsed the document and recommended its adoption by the WHO.