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Primary myelofibrosis is described in the packet's definition as a myeloproliferative disease. The packet lists CALR, JAK2, MPL, and SH2B3 as gene associations, and ClinGen validity levels are not provided for them in this packet. The inheritance pattern recorded is multifactorial. Prevalence is categorized as uncommon, at approximately 1 to 9 per 100,000 people. Age of onset categories are not certified in this packet.
The packet lists nine phenotype annotations, of which five are specified with frequency. Myelofibrosis, pallor, hepatomegaly, extramedullary hematopoiesis, and splenomegaly are each annotated with the frequency label 100% (always present). The remaining four phenotype annotations are not detailed in this packet. Severity, progression, and organ involvement beyond these annotations are not certified here.
The packet associates four genes with primary myelofibrosis: CALR on chromosome 19, JAK2 on chromosome 9, MPL on chromosome 1, and SH2B3 on chromosome 12. The packet does not supply validity ratings or mechanistic detail for these associations, so the strength of each gene association is not certified here. The inheritance pattern is listed as multifactorial. Recurrence, penetrance, and family implications are not certified in this packet.
Diagnostic methods and criteria are not certified in this packet. The packet does not state whether genetic findings confirm a diagnosis, and no newborn screening information is provided.
Verified approved-treatment records and foundational therapies are not certified in this packet. The packet's orphan-drug listing records INREBIC (fedratinib) and Vonjo (pacritinib) with status APPROVED. The listed indication for INREBIC is secondary and primary myelofibrosis, and the listed indication for Vonjo is primary myelofibrosis, post-polycythemia vera myelofibrosis, and post-essential thrombocythemia myelofibrosis. The same listing records jaktinib dihydrochloride monohydrate, sponsored by Suzhou Zelgen Biopharmaceuticals, with status DESIGNATED; orphan designation is not approval. Eligibility, dosing, and comparative information are not provided.
159 trials found
Prognosis and natural history are not certified in this packet.
According to ClinicalTrials.gov records summarized in the packet, numerous trials are associated with this condition. Examples include NCT07357727, a Phase 3 study of pelabresib and ruxolitinib in myelofibrosis sponsored by Novartis Pharmaceuticals (recruiting; listed dates 2026-05-27 to 2030-12-27); NCT07447817, a Phase 2 study of selinexor and pacritinib in JAK inhibitor-naive myelofibrosis with cytopenias, sponsored by John Mascarenhas (recruiting; 2026-10-23 to 2030-05-24); NCT06661915, a Phase 2 study of ASTX727 with or without iadademstat in advanced myeloproliferative neoplasms, sponsored by the National Cancer Institute (recruiting; 2025-08-14 to 2027-12-31); and NCT05320198, a Phase 1 study of DISC-0974 in myelofibrosis or myelodysplastic syndrome with anemia, sponsored by Disc Medicine (recruiting; 2022-06-06 to 2027-06-01). The packet also records NCT03441113, a Phase 2 extended-access momelotinib study sponsored by GlaxoSmithKline (active, not recruiting). Trial titles do not establish the effect of any intervention. The packet's research digest classifies the publication landscape as dominantly review and meta-analysis literature and notes gene therapy and biomarker publications. A ClinicalTrials.gov search link is included in the packet.
Data assembled from 8 of 12 sources · Last updated Nov 3, 2026, 3:00 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning primary myelofibrosis
Updated Sep 24, 2026
A case report details a rare synchronous triple malignancy involving multiple myeloma, prefibrotic primary myelofibrosis, and mucinous breast carcinoma in a patient from rural South Africa. This unique presentation highlights the complexity of managing multiple rare cancers simultaneously.
Recent research highlights the role of calreticulin mutations in essential thrombocythemia and primary myelofibrosis, providing insights into the molecular mechanisms underlying these conditions. Understanding these mutations could lead to improved diagnostic and therapeutic strategies.
A case report highlights a breakthrough invasive Aspergillus granulosus infection in a patient with primary myelofibrosis after azole antifungal therapy. This finding underscores the potential complications of antifungal treatments in immunocompromised patients.
The MPN PROGRESSion Registry is launched to track symptoms, treatments, and disease progression in individuals with myeloproliferative neoplasms (MPNs). This observational study aims to enhance understanding of conditions like Polycythemia Vera and Essential Thrombocythemia.