文章：

真性红细胞增多症和原发性血小板增多症中的母细胞转化与纤维化进展：发病率与危险因素的文献综述

Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors

原文发布日期：2015-11-13

DOI: 10.1038/bcj.2015.95

类型: Review

开放获取: 是

英文摘要：

Polycythemia vera (PV) and essential thrombocythemia (ET) constitute two of the three BCR-ABL1-negative myeloproliferative neoplasms and are characterized by relatively long median survivals (approximately 14 and 20 years, respectively). Potentially fatal disease complications in PV and ET include disease transformation into myelofibrosis (MF) or acute myeloid leukemia (AML). The range of reported frequencies for post-PV MF were 4.9–6% at 10 years and 6–14% at 15 years and for post-ET MF were 0.8–4.9% at 10 years and 4–11% at 15 years. The corresponding figures for post-PV AML were 2.3–14.4% at 10 years and 5.5–18.7% at 15 years and for post-ET AML were 0.7–3% at 10 years and 2.1–5.3% at 15 years. Risk factors cited for post-PV MF include advanced age, leukocytosis, reticulin fibrosis, splenomegaly and JAK2V617F allele burden and for post-ET MF include advanced age, leukocytosis, anemia, reticulin fibrosis, absence of JAK2V617F, use of anagrelide and presence of ASXL1 mutation. Risk factors for post-PV AML include advanced age, leukocytosis, reticulin fibrosis, splenomegaly, abnormal karyotype, TP53 or RUNX1 mutations as well as use of pipobroman, radiophosphorus (P32) and busulfan and for post-ET AML include advanced age, leukocytosis, anemia, extreme thrombocytosis, thrombosis, reticulin fibrosis, TP53 or RUNX1 mutations. It is important to note that some of the aforementioned incidence figures and risk factor determinations are probably inaccurate and at times conflicting because of the retrospective nature of studies and the inadvertent labeling, in some studies, of patients with prefibrotic primary MF or ‘masked’ PV, as ET. Ultimately, transformation of MPN leads to poor outcomes and management remains challenging. Further understanding of the molecular events leading to disease transformation is being investigated.

摘要翻译： 

真性红细胞增多症（PV）和原发性血小板增多症（ET）是BCR-ABL1阴性骨髓增殖性肿瘤中的两种类型，其特征为中位生存期相对较长（分别约为14年和20年）。PV和ET可能致命的并发症包括疾病转化为骨髓纤维化（MF）或急性髓系白血病（AML）。据报道，PV后MF的10年转化率为4.9%-6%，15年转化率为6%-14%；ET后MF的10年转化率为0.8%-4.9%，15年转化率为4%-11%。PV后AML的10年转化率为2.3%-14.4%，15年转化率为5.5%-18.7%；ET后AML的10年转化率为0.7%-3%，15年转化率为2.1%-5.3%。PV后MF的危险因素包括高龄、白细胞增多、网蛋白纤维化、脾肿大和JAK2V617F等位基因负荷；ET后MF的危险因素包括高龄、白细胞增多、贫血、网蛋白纤维化、JAK2V617F缺失、阿那格雷使用和ASXL1突变。PV后AML的危险因素包括高龄、白细胞增多、网蛋白纤维化、脾肿大、核型异常、TP53或RUNX1突变以及使用哌泊溴曼、放射性磷（P32）和白消安；ET后AML的危险因素包括高龄、白细胞增多、贫血、极重度血小板增多、血栓形成、网蛋白纤维化、TP53或RUNX1突变。需要指出的是，由于研究的回顾性性质以及部分研究中将纤维化前原发性MF或“隐匿性”PV患者误标为ET，上述部分发病率数据和危险因素判定可能存在不准确甚至相互矛盾的情况。最终，MPN的转化会导致不良预后，且临床管理仍具挑战性。目前正在深入研究导致疾病转化的分子事件机制。

原文链接：

Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors