Table 5 Proposed criteria for MDS/MPN with isolated isochromosome (17q).

From: Myelodysplastic/myeloproliferative neoplasms-unclassifiable with isolated isochromosome 17q represents a distinct clinico-biologic subset: a multi-institutional collaborative study from the Bone Marrow Pathology Group

Myeloid neoplasm with mixed myeloproliferative and myelodysplastic features at onset, not meeting the WHO criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm

<20% blastsa in the peripheral blood and bone marrow

Clinical and morphological features of myelodysplastic syndrome in addition to clinical and morphologic myeloproliferative features manifesting as a platelet count of ≥450 × 109/L associated with bone marrow megakaryocytic proliferation and/or a white blood cell count of ≥13 × 109/L

Presence of isolated isochromosome i(17q) or with 1 additional abnormality [other than del(7q)/-7]

No BCR/ABL1 fusion; no PDGFRA, PDGFRB, or FGFR1 rearrangement; no PCM1-JAK2

Absence of MPN-associated mutations (JAK2, CALR, and MPL)b

No history of recent cytotoxic or growth factor therapy that could explain the myelodysplastic/myeloproliferative features

  1. aBlasts and blast equivalents include myeloblasts, monoblasts, and promonocytes.
  2. bPresence 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 in SRSF2 and SETBP1 genes further support the diagnosis. However, these must be interpreted with caution since some of these mutations can be age-related or present in other neoplasms.
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