Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN): Types, Treatments & Prognosis
MDS/MPN are hybrid myeloid neoplasms exhibiting both dysplastic (ineffective hematopoiesis) and proliferative features.
Major WHO Categories
- Chronic myelomonocytic leukemia (CMML): Monocytosis ≥1×10⁹/L + dysplasia.
- Atypical CML (aCML): Neutrophilia, dysplasia, no BCR-ABL1.
- Juvenile myelomonocytic leukemia (JMML): Pediatric; RAS pathway mutations.
- MDS/MPN with ring sideroblasts & thrombocytosis (MDS/MPN-RS-T): SF3B1 + JAK2/MPL mutations.
- MDS/MPN, unclassifiable.
Treatment
- Lower-risk: Observation, hydroxyurea (proliferation control), ESAs, luspatercept (anemia).
- Higher-risk/transforming: Hypomethylating agents (azacitidine, decitabine), clinical trials.
- Allogeneic HCT: Only curative option; dependent on age, comorbidities, fitness.
- Supportive: Transfusions, iron chelation, infection prophylaxis.
Prognosis
IPSS-M (molecular) stratifies survival from months to decades. Molecular profile (ASXL1, SRSF2, TET2, RAS) guides risk assessment. Multidisciplinary hematology care is essential.
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