早前期原发性骨髓纤维化诊断的最新进展及其与原发性血小板增多症特点的比较

Latest progress in the diagnosis of early/prefibrotic primary myelofibrosis and its comparison with essential thrombocythemia

摘要:

2016年修订的世界卫生组织(WHO)髓系肿瘤和急性白血病的分类将原发性骨髓纤维化(PMF)分为2个阶段:原发性骨髓纤维化早前期(Pre-PMF)和原发性骨髓纤维化明显期(Overt PMF)。血小板增多是Pre-PMF患者较常见的表现,起病时与原发性血小板增多症(ET)十分相似,但Pre-PMF和ET在存活率、白血病进展率和明显骨髓纤维化进展率方面均不同,因此对二者的鉴别至关重要。Pre-PMF的诊断主要是根据骨髓活检的组织病理学特征、纤维化等级以及临床参数(白细胞增多症、贫血、乳酸脱氢酶升高和脾肿大)。本文总结了Pre-PMF诊断的最新进展,并比较了其与ET的临床特点、骨髓形态学改变、分子遗传学特征及预后。

Abstract:

Myeloid neoplasms and acute leukemia are categorized as early/prefibrotic primary myelofibrosis (Pre-PMF) and overt primary myelofibrosis (Overt PMF) in the revised World Health Organization classification in 2016. Thrombocytosis is a common manifestation in the patients with Pre-PMF and is similar to the essential thrombocythemia (ET) at onset. However, Pre-PMF and ET differ in survival rate, leukemic evolution and rates of progression to Overt PMF, and accurate differentiation is of vital importance. The diagnosis of Pre-PMF is mainly based on histopathological features of bone marrow biopsy, fibrosis grade and clinical parameters(leukocytosis, anemia, elevated lactate dehydrogenase and splenomegaly). The current article summarizes the latest advances in Pre-PMF diagnosis and compares its clinical features,morphological changes,molecular genetics and prognosis with those of ET.