‘Atypical CML’ (WHO 2016)

Now called MDS/MPN with Neutrophilia, as per 2022 WHO-HAEM5

See also: MDS page

More examples in the morphology section (Blood & Aspirate)

Definition

MDS/MPN with neutrophilia is an overlap disorder (e.g. like CMML)

Presents with a dysplastic neutrophil leukocytosis, often with additional multi-lineage dysplasia

BCR-ABL1, PDGFRA and PDGFRB mutations are not present

Epidemiology

Rare disorder, typically of older age

Median age at diagnosis: 60-70

Presentation

Symptomatic cytopenias

Leukocytosis

Hepatosplenomegaly

Diagnostics

Blood

  • WBC >13 - mainly neutrophils but with myelocytes, promyelocytes and monocytes present

  • Marked dysplastic change

  • Basophilia is not prominent

  • Blasts <5%

Marrow morphology

  • Hypercellular

  • Marked dysgranulopoeisis +/- other lineage dysplasias (common)

  • Blasts increased but <20%

Flow Cytometry

  • No specific immunophenotype

Cytogenetics/Molecular

  • Abnormal karyotype present in most patients, e.g. +8, del(20q)

  • SETBP1, NRAS and KRAS mutations may be present

Management

Fit patients: Cytoreduction followed by allogeneic stem cell transplant

Non-transplant eligible: Cytoreduction, Azactidine

Prognosis: Median survival 1-2 years