Diagnostic criteria MDS / MPN

 

Diagnostic criteria a-CML:

1. PB leukocytosis (WBC > 13 x 109/L) with increased granulopoiesis with precursors (>10%) and dysgranulopoiesis.
2. absence of BCR-ABL1 fusion gene; no evidence of P.M.F., P.V. of E.T.
3. absence of PDGFRA, PDGFRB, FGFR1, of PCM1-JAK2 rearrangement.
4. minimal absolute basophilia (<2% of WBC) or monocytosis (<10% of WBC)
5. hypercellular bone marrow with myeloid proliferation and dysplastic features, with or without dysplastic features in other lineages.
6. <20% blasts.

 

Diagnostic criteria CMML:

1. persistent monocytosis > 1 x 109/L and > 10% monocytes.
2. absence of BCR-ABL1 (CML), P.M.F., P.V. of E.T. (*)
3. no rearrangement of PDGFRA, PDGFRB, FGFR1 herrangschikking of PCM1-JAK2.
4. <20% blasts (myeloblasts, monoblast + promonocytes) in the blood and bone marrow.
5. dysplasia in one or more myeloid cell lineages**.
6. acquired clonal cytogenetic or molecular genetic abnormality (TET2, ASXL1, SRSF2, and SETBP1)

* Cases of MPN can be associated with monocytosis or they can develop it during the course of the disease. These cases may simulate CMML. In these rare instances, a previous documented history of MPN excludes CMML, whereas the presence of MPN features in the BM and/or of MPN-associated mutations (JAK2, CALR, or MPL) tend to support MPN with monocytosis rather than CMML.
** in absence of dysplastic features diagnosis can be made if an acquired clonal cytogenetic or molecular genetic abnormality is present, or if monocytosis is present > 3 months and all other causes for monocytosis have been excluded.

Based on percentage of blasts CMML can be subdivided:
CMML-0 (<2% blasts in PB + <5% blasts in BM),
CMML-1 (2-4% blasts PB + 5-9% blasts in BM),
CMML-2 (>5% blasts PB + 10-19% blasts in BM).

 

Diagnostic criteria CNL:

1. Peripheral blood white blood cell count ≥25 × 10 9 /L
      – Segmented neutrophils plus band forms are >80% of white blood cells.
      – Neutrophil precursors promyelocytes, myelocytes, metamyelocytes) are <10% of white blood cells.
      – Myeloblasts rarely observed.
      – Monocyte count <1 × 10 9 /L.
      – No dysgranulopoiesis.
2. Presence of CSF3R T6181 or other activating CSF3R mutation
     or
    In the absence of a CSFR3R mutation, persistent neutrophilia (at least 3 months) and
    no identifiable cause of physiological or reactive neutrophilia, including absence of a plasma cell neoplasm
     or
    if present, demonstration of clonality of myeloid cells by cytogenetic or molecular studies.
3. Hypercellular bone marrow.
      – Neutrophilic granulocytes increased in percentage and number.
      – Neutrophil maturation appears normal.
      – Myeloblasts <5% of nucleated bone marrow cells.
4. Not meeting the WHO criteria for any other myeloid neoplasm.
      – Specifically, no BCR-ABL1
                              no rearrangement of PDGFRA , PDGFRB , or FGFR1
                              no PCM1-JAK2 , ETV6-JAK2 , or BCR-JAK2.

All criteria must be met for the diagnosis of chronic neutrophilic leukemia to be made.

 

Diagnostic criteria MDS/MPN-RS-T:

1. Anemia associated with dysplastic erthropoiesis, with or without multilineage dysplasia.
2. Persistent thrombocytosis > 450 x 109/L.
3. SF3B1 mutation.
       or, if absent
    no history of recent cytotoxic or growth factor therapy that could explain MDS/MPN features.
4. No BCR-ABL1 fusion, no rearrangement of PDGFRA, PDGFRB or FGFR1, no PCM1-JAK2 and no t(3;3)(q21.3q26.2) or del(5q).
5. No history of MDS (except MDS-RS), MPN or MDS/MPN.