CalR and MPL Driver Mutations and Their Role in the Diagnosis and Clinical Course of JAK2-Unmutated Chronic Myeloproliferative Neoplasm: Results from a Pilot Single-Center Study
Abstract
1. Introduction
2. Materials and Methods
2.1. Patients
2.2. JAK2, CalR, and MPL Gene Analysis
2.3. Statistical Analysis
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Variable | Total MPN (n: 46) | PMF (n: 12) | ET (n: 34) | p |
---|---|---|---|---|
Male/female, % male | 18/28 (39.1) | 2/10 (16.6) | 16/18 (47.0) | 0.06 |
Age (onset), y | 53.5 (23–93) | 55.1 (33–85) | 53 (23–93) | 0.97 |
Leucocytes (×109/L) | 8.9 (3.6–24.5) | 9.4 (3.6–23.4) | 8.8 (4.9–24.5) | 0.80 |
Hemoglobin (g/dL) | 11.6 (5.8–15.9) | 9.7 (5.8–11.1) | 12.3 (7.9–15.9) | 0.001 |
Platelets (×109/L) | 857 (147–2631) | 533 (147–921) | 993 (326–2631) | 0.001 |
Gene Mutation | PMF (n = 12, %) | ET (n = 34, %) | MPN (n = 46, %) | p |
---|---|---|---|---|
CalR-Type 1 | 4 (33.3) | 8 (23.5) | 12 (26.1) | 0.51 |
CalR-Type 2 | 1 (8.3) | 5 (14.7) | 6 (13.0) | 0.57 |
MPL-L | 1 (8.3) | 0 (0) | 1 (2.2) | 0.09 |
MPL-K | 3 (25.0) | 0 (0) | 3 (6.5) | 0.003 |
Variable | Unadjusted OR | Adjusted OR | p-Value |
---|---|---|---|
CalR Type 1 | 1.50 | 1.57 (1.04–2.36) | 0.04 |
CalR Type 2 | 0.80 | 0.74 (0.49–1.12) | 0.25 |
MPL-L | 1.01 | 1.02 (1.01–1.03) | 0.02 |
MPL-K | 0.98 | 0.99 (0.97–1.01) | 0.34 |
Age | 1.04 | 1.05 (1.00–1.10) | 0.02 |
Gender (male) | 1.70 | 1.82 (0.93–3.58) | 0.10 |
Leukemic Transformation | |||||
---|---|---|---|---|---|
Age at the Diagnosis and Sex | Diagnosis, Follow-Up (Months) | Age and Diagnosis at the Transformation | Mutation Status | Treatment and Status | |
Case 1 | 62, M | ET, 150 | 75, AML | CalR Type 1 mutated | Hydroxyurea, Exitus in 4th month |
Case 2 | 68, M | ET, 83 | 76, CMML-AML | Triple-Negative | Azacitidine, Exitus in the second month |
Case 3 | 53, F | PMF, 160 | 70, AML | Triple-Negative | Azacitidine, Exitus in the third month |
Major Thrombotic Events | |||||||
---|---|---|---|---|---|---|---|
Age at the Diagnosis and Sex | Diagnosis, Follow-Up (Months) | Age at Thrombosis | Mutation Status | Thrombosis | Pre-Thrombotic Treatment | Treatment and Status | |
Case 1 | 39 | ET, 134 | 39 | Triple-Negative | Portal vein thrombosis | None | Hydroxyurea and warfarin, Alive |
Case 2 | 31 | ET, 84 | 33 | CalR Type 1 mutated | Portal vein thrombosis | Acetylsalicylic acid | Hydroxyurea and warfarin, Alive |
Case 3 | 52 | ET, 77 | 52 | Triple-Negative | Ischemic stroke | None | Hydroxyurea and acetylsalicylic acid, Alive |
Case 4 | 93 | ET, 88 | 95 | CalR Type 1 mutated | Myocardial infarction | Interferon-alpha and acetylsalicylic acid | Interferon-alpha and acetylsalicylic acid, Exitus |
Case 5 | 60 | ET, 205 | 64 | Triple-Negative | Portal vein thrombosis | Hydroxyurea and acetylsalicylic acid | Hydroxyurea and warfarin, Alive |
Case 6 | 65 | ET, 129 | 68 | CalR Type 2 mutated | Portal vein thrombosis | Hydroxyurea and acetylsalicylic acid | Hydroxyurea and warfarin, Alive |
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Tiryaki, T.O.; Dağlar Aday, A.; Nalçacı, M.; Yavuz, A.S. CalR and MPL Driver Mutations and Their Role in the Diagnosis and Clinical Course of JAK2-Unmutated Chronic Myeloproliferative Neoplasm: Results from a Pilot Single-Center Study. Medicina 2025, 61, 962. https://doi.org/10.3390/medicina61060962
Tiryaki TO, Dağlar Aday A, Nalçacı M, Yavuz AS. CalR and MPL Driver Mutations and Their Role in the Diagnosis and Clinical Course of JAK2-Unmutated Chronic Myeloproliferative Neoplasm: Results from a Pilot Single-Center Study. Medicina. 2025; 61(6):962. https://doi.org/10.3390/medicina61060962
Chicago/Turabian StyleTiryaki, Tarık Onur, Aynur Dağlar Aday, Meliha Nalçacı, and Akif Selim Yavuz. 2025. "CalR and MPL Driver Mutations and Their Role in the Diagnosis and Clinical Course of JAK2-Unmutated Chronic Myeloproliferative Neoplasm: Results from a Pilot Single-Center Study" Medicina 61, no. 6: 962. https://doi.org/10.3390/medicina61060962
APA StyleTiryaki, T. O., Dağlar Aday, A., Nalçacı, M., & Yavuz, A. S. (2025). CalR and MPL Driver Mutations and Their Role in the Diagnosis and Clinical Course of JAK2-Unmutated Chronic Myeloproliferative Neoplasm: Results from a Pilot Single-Center Study. Medicina, 61(6), 962. https://doi.org/10.3390/medicina61060962