Diagnostic criteria for myelodysplastic/myeloproliferative neoplasm with isochromosome (17q) [MDS/MPN with i(17q)]
| Fulfills the general criteria for a diagnosis of MDS/MPN, NOS • Leukocytosis of ≥ 13 × 109/L • Cytopenia (thresholds same as for MDS) • Blasts < 20% of the cells in blood and bone marrow • Dysgranulopoiesis with non-segmented or Pseudo-Pelger Huët neutrophils • An i(17q), either isolated or occurring with one other additional abnormality [other than −7/del(7q)] • No BCR::ABL1 or genetic abnormalities of myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions • Absence of MPN-associated mutations (JAK2, CALR and MPL)* • No history of recent cytotoxic or growth factor therapy that could explain the MDS/MPN features |
| Fulfills the general criteria for a diagnosis of MDS/MPN, NOS • Leukocytosis of ≥ 13 × 109/L • Cytopenia (thresholds same as for MDS) • Blasts < 20% of the cells in blood and bone marrow • Dysgranulopoiesis with non-segmented or Pseudo-Pelger Huët neutrophils • An i(17q), either isolated or occurring with one other additional abnormality [other than −7/del(7q)] • No BCR::ABL1 or genetic abnormalities of myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions • Absence of MPN-associated mutations (JAK2, CALR and MPL)* • No history of recent cytotoxic or growth factor therapy that could explain the MDS/MPN features |
MDS/MPN with i(17q) is considered a provisional subentity of MDS/MPN, NOS.
Presence of MPN features in the bone marrow, and/or MPN-associated mutations (in JAK2, CALR, or MPL) suggests progression of an underlying MPN that was not diagnosed and should be excluded; conversely, in the appropriate clinical context, mutations particularly co-mutations in SRSF2 and SETBP1 genes further support this diagnosis.