Table 1.

Semi-molecular classification of myeloproliferative disorders (MPD).

Main CategoriesSubcategories
I. Classic MPD 1. BCR-ABL-positive
 2. BCR-ABL-negative Chronic myeloid leukemia (CML)
  • Polycythemia vera (~100% JAK2V617F+)

  • Essential thrombocythemia (~50% JAK2V617F+)

  • Myelofibrosis (~50% JAK2V617F+)

 
II. Atypical MPD 1. Chronic myelomonocytic leukemia  
 2. Juvenile myelomonocytic leukemia (frequent PTP11, NF1, and RAS mutations)  
 3. Chronic neutrophilic leukemia (~20% JAK2V617F+ 
 4. Chronic eosinophilic leukemia/eosinophilic MPD 
  • PDGFRA-rearranged (e.g., FIP1L1-PDGFRA)

  • PDGFRB-rearranged (e.g., TEL/ETV6-PDGFRB)

  • FGFR1-rearranged (e.g., ZNF198/FIM/RAMP-FGFR1) (a.k.a. 8p11 myeloproliferative syndrome)

  • Molecularly undefined

 
 5. Hypereosinophilia syndrome  
 6. Chronic basophilic leukemia  
 7. Systemic mastocytosis 
  • PDGFRA-rearranged (e.g., FIP1L1-PDGFRA)

  • KIT-mutated (e.g., KITD816V)

  • Molecularly undefined

 
 8. Unclassified MPD (~20% JAK2V617F+
  • Mixed/overlap myelodysplastic syndrome/MPD

  • CML-like but BCR-ABL-negative

 
Main CategoriesSubcategories
I. Classic MPD 1. BCR-ABL-positive
 2. BCR-ABL-negative Chronic myeloid leukemia (CML)
  • Polycythemia vera (~100% JAK2V617F+)

  • Essential thrombocythemia (~50% JAK2V617F+)

  • Myelofibrosis (~50% JAK2V617F+)

 
II. Atypical MPD 1. Chronic myelomonocytic leukemia  
 2. Juvenile myelomonocytic leukemia (frequent PTP11, NF1, and RAS mutations)  
 3. Chronic neutrophilic leukemia (~20% JAK2V617F+ 
 4. Chronic eosinophilic leukemia/eosinophilic MPD 
  • PDGFRA-rearranged (e.g., FIP1L1-PDGFRA)

  • PDGFRB-rearranged (e.g., TEL/ETV6-PDGFRB)

  • FGFR1-rearranged (e.g., ZNF198/FIM/RAMP-FGFR1) (a.k.a. 8p11 myeloproliferative syndrome)

  • Molecularly undefined

 
 5. Hypereosinophilia syndrome  
 6. Chronic basophilic leukemia  
 7. Systemic mastocytosis 
  • PDGFRA-rearranged (e.g., FIP1L1-PDGFRA)

  • KIT-mutated (e.g., KITD816V)

  • Molecularly undefined

 
 8. Unclassified MPD (~20% JAK2V617F+
  • Mixed/overlap myelodysplastic syndrome/MPD

  • CML-like but BCR-ABL-negative

 
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