文章：

原发性骨髓纤维化的病理学与分子诊断研究综述

A Review of the Pathological and Molecular Diagnosis of Primary Myelofibrosis

原文发布日期：24 December 2025

DOI: 10.3390/cancers18010050

类型: Article

开放获取: 是

英文摘要：

Primary myelofibrosis (PMF) is a Philadelphia chromosome (Ph)-negative myeloproliferative neoplasm (MPN) that features clonal proliferation of atypical megakaryocytes and myeloid cells, fibrosis of the bone marrow, extramedullary hematopoiesis, and increased risk of leukemic transformation to acute myeloid leukemia (AML). With the widespread application of molecular studies, especially next generation sequencing (NGS), significant advances have reshaped our understanding of the molecular pathogenesis of PMF and the prognostic relevance of specific gene mutations. In this review, we summarize its clinicopathologic features, genetic and molecular findings, updated diagnostic criteria, and differential diagnosis. These updates have been incorporated into the 5th edition of the World Health Organization classification of Hematolymphoid Tumors (WHO-5th) and the 2022 International Consensus Classification (ICC), thereby improving diagnostic accuracy and risk stratification, both of which are essential for tailoring treatment strategies and enhancing patient outcomes.

摘要翻译： 

原发性骨髓纤维化（PMF）是一种费城染色体（Ph）阴性的骨髓增殖性肿瘤（MPN），其特征为不典型巨核细胞和髓系细胞的克隆性增殖、骨髓纤维化、髓外造血，以及向急性髓系白血病（AML）转化的风险增高。随着分子研究，特别是下一代测序（NGS）的广泛应用，相关重要进展重塑了我们对PMF分子发病机制及特定基因突变预后意义的理解。本文综述了其临床病理特征、遗传与分子学发现、更新的诊断标准及鉴别诊断。这些更新已被纳入世界卫生组织第五版《造血与淋巴组织肿瘤分类》（WHO-5th）及2022年国际共识分类（ICC），从而提高了诊断准确性和风险分层能力，这两者对于制定个体化治疗策略和改善患者预后至关重要。

原文链接：

A Review of the Pathological and Molecular Diagnosis of Primary Myelofibrosis