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Molecular profiling and targeted inhibitor therapy in atypical chronic myeloid leukaemia in blast crisis
  1. Stephen E Langabeer1,
  2. Claire M Comerford2,
  3. John Quinn2,
  4. Philip T Murphy2
  1. 1 Cancer Molecular Diagnostics, St. James’s Hospital, Dublin, Ireland
  2. 2 Department of Haematology, Beaumont Hospital, Dublin, Ireland
  1. Correspondence to Dr Stephen E Langabeer, Cancer Molecular Diagnostics, Central Pathology Laboratory, St. James’s Hospital, Dublin 8, Ireland; slangabeer{at}

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Atypical chronic myeloid leukaemia (aCML) is a rare myelodysplastic/myeloproliferative (MDS/MPN) neoplasm morphologically characterised by leukocytosis, immature granulocytes in the peripheral blood (PB) and granulocytic and megakaryocytic dysplasia in the bone marrow (BM).1 Blast crisis is frequent and associated with an exceedingly poor prognosis.2 Allogeneic stem cell transplantation is the only potentially curative option but in those patients ineligible, treatment has largely relied on agents used for MDS and MPN with varying degrees of success.3 Mutations in genes associated with other myeloid malignancies are detected in all patients with 60% of cases harbouring more than one mutation.4 This underlying molecular complexity allied to heterogeneous clinical features means that no current standard of care exists for patients with aCML. Personalised treatment of patients with aCML requires characterisation of the individuals’ molecular …

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  • Handling editor Mary Frances McMullin

  • Contributors SEL performed laboratory studies. CMC, JQ and PTM provided patient care and clinical information. All authors contributed to manuscript preparation and approved the submitted version.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.