Essential Thrombocythaemia — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Clinical characteristics and whole exome sequencing in
Thammayot Siraphop et al. — Hematology (Amsterdam, Netherlands) (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/41566670/
- 2.
Predominant Merkel Cell Polyomavirus DNA Detection in Essential Thrombocythemia within Myeloproliferative Neoplasms.
Liu Dan et al. — Cancer research communications (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41818640/
- 3.
Emerging Survival Predictor Model in Essential Thrombocythemia: The AAA
Sönmez Özge et al. — American journal of hematology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41793248/
- 4.
Loss of KDEL function from a calreticulin frameshift mutation drives expression of an immature, mutant calreticulin-dependent form of the thrombopoietin receptor MPL.
Masubuchi Nami et al. — Haematologica (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41195513/
- 5.
Response to "Further considerations on sex-based disparities in essential thrombocythemia: Distribution, genotype, thrombotic risk, and survival".
Yu Lennex Hsueh-Lin et al. — Journal of the Formosan Medical Association = Taiwan yi zhi (30 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41916869/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Study of DISC-0974 (RALLY-MF) in Participants With Myelofibrosis or Myelodysplastic Syndrome and Anemia
Recruiting — Phase 1 — Disc Medicine, Inc
https://clinicaltrials.gov/study/NCT05320198
- 2.
A Study of Bomedemstat (IMG-7289/MK-3543) Compared to Best Available Therapy (BAT) in Participants With Essential Thrombocythemia and an Inadequate Response or Intolerance of Hydroxyurea (MK-3543-006)
Recruiting — Phase 3 — Merck Sharp & Dohme LLC
https://clinicaltrials.gov/study/NCT06079879
- 3.
A Study to Evaluate Safety and Efficacy of Bomedemstat (MK-3543-017)
Recruiting — Phase 3 — Merck Sharp & Dohme LLC
https://clinicaltrials.gov/study/NCT06351631
- 4.
A Study to Evaluate INCA035784 in Participants With Myeloproliferative Neoplasms
Recruiting — Phase 1 — Incyte Corporation
https://clinicaltrials.gov/study/NCT07008118
- 5.
Bomedemstat vs Hydroxyurea for Essential Thrombocythemia (MK-3543-007)
Recruiting — Phase 3 — Merck Sharp & Dohme LLC
https://clinicaltrials.gov/study/NCT06456346
- 6.
A Phase 1a/1b Study of ELVN-001 for the Treatment Chronic Myeloid Leukemia
Recruiting — Phase 1 — Enliven Therapeutics
https://clinicaltrials.gov/study/NCT05304377
- 7.
Study of INCA036978 in Participants With Myeloproliferative Neoplasms
Recruiting — Phase 1 — Incyte Corporation
https://clinicaltrials.gov/study/NCT07441694
- 8.
A Phase 3 Study of Pacritinib in Patients With Primary Myelofibrosis, Post Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis
Recruiting — Phase 3 — Swedish Orphan Biovitrum
https://clinicaltrials.gov/study/NCT03165734
- 9.
Study of Navtemadlin add-on to Ruxolitinib in JAK Inhibitor-Naïve Patients With Myelofibrosis Who Have a Suboptimal Response to Ruxolitinib
Recruiting — Phase 3 — Kartos Therapeutics, Inc.
https://clinicaltrials.gov/study/NCT06479135
- 10.
A Study to Evaluate INCA033989 Administered as a Monotherapy or in Combination With Ruxolitinib in Participants With Myeloproliferative Neoplasms
Recruiting — Phase 1 — Incyte Corporation
https://clinicaltrials.gov/study/NCT05936359
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Essential Thrombocythaemia
Essential Thrombocythaemia is the most common myeloproliferative neoplasm, characterised by sustained elevation of platelet count due to clonal bone marrow proliferation. It carries risks of thrombosis and bleeding, and a small proportion of patients transform to myelofibrosis or acute leukaemia. Management is risk-stratified and may include aspirin and cytoreductive therapy.
Most Recent Research
OBJECTIVES: The aim of this study was to characterize the clinical features and outcomes of patients with JAK2 V617F- and CALR-unmutated essential thrombocythemia (ET) and to identify potential driver mutations through whole-exome sequencing (WES). METHODS: This was a cross-sectional study including patients diagnosed with ET between 2007 and 2024. Clinical characteristics and outcomes were compared between patients with and without JAK2V617F and CALR mutations. WES was analyzed in JAK2V617F- and CALR-unmutated ET patients. RESULTS: Thirty-nine out of 162 ET patients (24%) were JAK2V617F- and CALR-unmutated. This group was younger than patients in the JAK2V617F mutated group (mean age 53.7 vs. 61.1 years, p = 0.012) and had lower incidence of thrombotic events (5.1% vs. 9.1%, p = 0.327). The median overall survival was 13.51 years compared to 12.61 years in patients with JAK2V617F or CALR mutations (p = 0.63). There were no statistically significant differences in clinical symptoms, incidence of thrombosis, bleeding, myelofibrosis, or leukemic transformation. WES was analyzed in 15 patients. Uncommon MPL mutations were identified, including MPLL265F, MPLP70L, and MPLR321Q. Potential novel CALR mutations were detected in exon 5 (c.540C > T, N180 = ) and exon 6 (c.703-3del). Non-driver gene mutations were detected, including RUNX1 (57.1%), ASXL1, DNMT3A, SETBP1, and MSH6. DISCUSSION AND CONCLUSIONS: Patients with JAK2V617F- and CALR-unmutated ET tend to present at a younger age and exhibit a lower incidence of thrombosis compared to those with JAK2V617F-mutated ET. The application of WES enabled the detection of uncommon and potential driver mutations in JAK2V617F- and CALR-unmutated ET.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.