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JAK2V617F activating mutation is associated with the myeloproliferative type of chronic myelomonocytic leukaemia
  1. A Pich1,
  2. L Riera2,
  3. F Sismondi2,
  4. L Godio1,
  5. L Davico Bonino1,
  6. F Marmont3,
  7. P Francia di Celle2
  1. 1
    Department of Biomedical Sciences and Human Oncology, Section of Pathology, University of Turin, Turin, Italy
  2. 2
    Center for Experimental Research and Medical Studies (CERMS), Turin, Italy
  3. 3
    Division of Haematology, San Giovanni Hospital, Turin, Italy
  1. Correspondence to Professor Achille Pich, Department of Biomedical Sciences and Human Oncology, Section of Pathology, University of Turin, Via Santena 7, I-10126 Torino, Italy; achille.pich{at}


Background: Chronic myelomonocytic leukaemia (CMML) is a haematopoietic malignancy with heterogeneous clinical and morphological features. It is classified in the World Health Organization myeloproliferative-myelodysplastic overlap category. JAK2V617F mutation can be found in a large percentage of patients with myeloproliferative neoplasms.

Aims: To investigate the association between JAK2V617F mutation and clinical, haematological and bone marrow histological features in CMML and to verify whether the mutation is associated with the myeloproliferative type of the disease.

Methods: 78 consecutive patients with newly diagnosed CMML from 2004 to 2008 were included in the study. JAK2V617F mutation was assessed using direct sequencing of exon 14 or by allele-specific PCR from total peripheral blood or bone marrow samples.

Results: JAK2V617F mutation was identified in eight cases (10.2%). All patients with the mutation presented with splenomegaly and had a significantly higher haemoglobin level and neutrophil count than patients without the mutation. All bone marrow biopsies of JAK2V617F-mutated CMML showed increased erythropoiesis, a marked myeloid and megakaryocytic hyperplasia with occasionally clustered megakaryocytes, and a mild or moderate (grade 1 or 2) fibrosis; six cases showed an increased number of dilated sinusoids and reactive lymphoid nodules.

Conclusions: The results indicate that JAK2V617F mutation is associated with clinical and morphological features of the myeloproliferative type of CMML. Therefore, JAK2 mutation analysis together with bone marrow morphology could help in a more appropriate classification of the disease.

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  • Funding This work was supported by grants from the Italian Ministero dell’Università e Ricerca Scientifica e Tecnologica (MURST).

  • Competing interests None.

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

  • Ethics approval Ethics approval was obtained from the Ethics Committee of ASO San Giovanni Battista - ASO CTO/CRF/Maria Adelaide of Turin.