{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:37:39Z","timestamp":1787027859388,"version":"build-2736575974"},"reference-count":54,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T00:00:00Z","timestamp":1766534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/cancers18010050","type":"journal-article","created":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T11:22:14Z","timestamp":1766575334000},"page":"50","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Review of the Pathological and Molecular Diagnosis of Primary Myelofibrosis"],"prefix":"10.3390","volume":"18","author":[{"given":"Richard","family":"Shao","sequence":"first","affiliation":[{"name":"College of Medicine, University of Central Florida, 6850 Lake Nona Blvd, Orlando, FL 32827, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4600-2963","authenticated-orcid":false,"given":"Christopher","family":"Ryder","sequence":"additional","affiliation":[{"name":"Department of Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6079-5092","authenticated-orcid":false,"given":"Le","family":"Wang","sequence":"additional","affiliation":[{"name":"Reading Hospital McGlinn Cancer Institute, Phoenixville Hospital Campus, West Reading, PA 19460, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2609-4063","authenticated-orcid":false,"given":"Lynn","family":"Moscinski","sequence":"additional","affiliation":[{"name":"Department of Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4573-7597","authenticated-orcid":false,"given":"Michael","family":"Martin","sequence":"additional","affiliation":[{"name":"College of Medicine, University of South Florida Morsani, Tampa, FL 33612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mac","family":"Shebes","sequence":"additional","affiliation":[{"name":"College of Medicine, University of South Florida Morsani, Tampa, FL 33612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie Y.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinming","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e525","DOI":"10.1038\/bcj.2017.6","article-title":"The role of the extracellular matrix in primary myelofibrosis","volume":"7","author":"Leiva","year":"2017","journal-title":"Blood Cancer J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1159\/000204873","article-title":"Acute transformation in nonleukemic chronic myeloproliferative disorders: Actuarial probability and main characteristics in a series of 218 patients","volume":"85","author":"Cervantes","year":"1991","journal-title":"Acta Haematol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.4065\/mcp.2009.0543","article-title":"Mature survival data for 176 patients younger than 60 years with primary myelofibrosis diagnosed between 1976 and 2005: Evidence for survival gains in recent years","volume":"84","author":"Vaidya","year":"2009","journal-title":"Mayo Clin. 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