Hidaka Tomonori, Kamiunten Ayako, Shimoda Kazuya
Department of Gastroenterology and Hematology, Faculty of Medicine, University of Miyazaki.
Rinsho Ketsueki. 2018;59(8):1066-1071. doi: 10.11406/rinketsu.59.1066.
The 2016 revised WHO classification of tumors of hematopoietic and lymphoid tissues has incorporated novel molecular markers, such as calreticulin (CALR) mutations, for the diagnosis of myeloproliferative neoplasms (MPNs). Typically, CALR mutations are detected in 25%-30% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) and can lead to frameshifts that produce proteins with a novel C-terminal. In addition, the CALR mutation plays a crucial role in the MPN pathogenesis. The second major revision comprises the change in RBC parameters for polycythemia diagnosis; additionally, it emphasizes BM biopsy for the diagnosis of PV. Previously, PV was often underdiagnosed when considering the Hb levels of >18.5 g/dl for males and >16.5 g/dl for females; thus, the 2016 revision lowered these levels to >16.5 g/dl for males and >16.0 g/l for females. The third major revision is the introduction of a novel entity "prefibrotic/early" PMF (prePMF) to PMF. Although megakaryocytic proliferation and atypia were observed in in BM biopsy specimens of prePMF, these were not accompanied by reticulin fibrosis > grade 1. Thus, the inferior prognosis of prePMF was reported in comparison with "true" ET.
2016年修订的世界卫生组织造血与淋巴组织肿瘤分类纳入了新的分子标志物,如钙网蛋白(CALR)突变,用于诊断骨髓增殖性肿瘤(MPN)。通常,在25%-30%的原发性血小板增多症(ET)或原发性骨髓纤维化(PMF)患者中可检测到CALR突变,其可导致移码突变,产生具有新C末端的蛋白质。此外,CALR突变在MPN发病机制中起关键作用。第二项主要修订包括诊断真性红细胞增多症时红细胞参数的变化;此外,强调骨髓活检用于诊断真性红细胞增多症(PV)。以前,考虑到男性血红蛋白水平>18.5 g/dl和女性>16.5 g/dl时,PV常常被漏诊;因此,2016年修订版将这些水平分别降至男性>16.5 g/dl和女性>16.0 g/l。第三项主要修订是在原发性骨髓纤维化(PMF)中引入了一个新的实体“纤维化前期/早期”PMF(prePMF)。尽管在prePMF的骨髓活检标本中观察到巨核细胞增殖和异型性,但这些均未伴有网状纤维纤维化>1级。因此,与“真性”ET相比,prePMF的预后较差。