A Review of the Pathological and Molecular Diagnosis of Primary Myelofibrosis.

Authors

• Richard Shao
• Christopher Ryder
• Le Wang, Reading Hospital McGlinn Cancer Institute, Phoenixville Hospital Campus, West Reading, PAFollow
• Hailing Zhang
• Lynn Moscinski
• Michael Martin
• Mac Shebes
• Julie Y Li
• Jinming Song

Document Type

Article

Publication Date

12-24-2025

Abstract

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.

Publication Title

Cancers (Basel)

Volume

18

Issue

1

Recommended Citation

Shao, R., Ryder, C., Wang, L., Zhang, H., Moscinski, L., Martin, M., Shebes, M., Li, J., & Song, J. (2025). A Review of the Pathological and Molecular Diagnosis of Primary Myelofibrosis.. Cancers (Basel), 18 (1) https://doi.org/https://doi.org/10.3390/cancers18010050