The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance
Abstract
:1. Mutation and Disease Pathogenesis
2. Mutation and Clinical Phenotype
3. Mutation and Prognosis
4. Mutation and Treatment Response
4.1. Impact on Response to JAK Inhibitors or Interferon
4.2. Impact on Transplant Outcome
4.3. Minimal Residual Disease (MRD)
5. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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Overt Primary Myelofibrosis (All 3 Major and at Least 1 Minor are Required) | Prefibrotic Primary Myelofibrosis (All 3 Major and at Least 1 Minor are Required) |
---|---|
Major criteria
| Major criteria
|
Minor criteria
| Minor criteria
|
Prognostic Model | Risk Groups and Clinical Relevance |
---|---|
International Prognostic Scoring System (IPSS) [45] IPSS estimates survival at the time of diagnosis. | |
Risk factors (weight):
| Low risk: 0 (median survival 11.3 years) Intermediate-1 risk: 1 point (7.9 years) Intermediate-2 risk: 2 points (4.0 years) High risk: ≥3 points (2.3 years) |
Dynamic International Prognostic Scoring System (DIPSS) [46] DIPSS can be applied anytime during clinical course. | |
Risk factors (weight):
| Low risk: 0 (median survival: not reached) Intermediate-1 risk: 1 point (14.2 years) Intermediate-2 risk: 2 points (4.0 years) High risk: ≥3 points (1.5 years) |
DIPSS-plus [47] DIPSS-plus can be applied anytime during the clinical course. | |
Risk factors (weight):
| Low risk: 0 (median survival: 15.4 years) Intermediate-1 risk: 1 point (6.5 years) Intermediate-2 risk: 2 points (2.9 years) High risk: ≥3 points (1.3 years) |
MIPSS70 [55] MIPSS70 is used to better select patients <70 years as candidates for allogeneic stem cell transplantation. | |
Risk factors (weight):
| Low risk: 0–1 points (median survival: 27.7 years) Intermediate risk: 2–4 points (7.1 years) High risk: ≥5 points (2.3 years) |
MIPSS70+ version 2.0 [57] MIPSS70+ version 2.0 incorporates the revised cytogenetic risk levels, U2AF1Q157 as an additional HMR mutation, and new sex- and severity-adjusted hemoglobin thresholds. | |
Risk factors (weight):
| Very low risk: 0 (median survival: not reached) Low risk: 1–2 points (16.4 years) Intermediate risk: 3–4 points (7.7 years) High risk: 5–8 points (4.1 years) Very high risk: ≥9 points (1.8 years) |
GIPSS [59] GIPSS may be useful in early-stage patients because it can predict outcomes in the absence of clinical signs of progressive disease. | |
Risk factors (weight):
| Low risk: 0 (median survival: 26.4 years) Intermediate-1 risk: 1 point (8 years) Intermediate-2 risk: 2 points (4.2 years) High risk: ≥3 points (2 years) |
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Rumi, E.; Trotti, C.; Vanni, D.; Casetti, I.C.; Pietra, D.; Sant’Antonio, E. The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance. Int. J. Mol. Sci. 2020, 21, 8885. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21238885
Rumi E, Trotti C, Vanni D, Casetti IC, Pietra D, Sant’Antonio E. The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance. International Journal of Molecular Sciences. 2020; 21(23):8885. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21238885
Chicago/Turabian StyleRumi, Elisa, Chiara Trotti, Daniele Vanni, Ilaria Carola Casetti, Daniela Pietra, and Emanuela Sant’Antonio. 2020. "The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance" International Journal of Molecular Sciences 21, no. 23: 8885. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21238885