Research Paper

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

  1. Göran Carlsson1,*,
  2. Anders Fasth2,
  3. Elisabet Berglöf1,
  4. Kristina Lagerstedt-Robinson3,
  5. Magnus Nordenskjöld3,
  6. Jan Palmblad4,
  7. Jan-Inge Henter1,†,
  8. Bengt Fadeel,1,5,†

Article first published online: 25 MAY 2012

DOI: 10.1111/j.1365-2141.2012.09171.x

Issue

British Journal of Haematology

British Journal of Haematology

Volume 158, Issue 3, pages 363–369, August 2012

Additional Information

How to Cite

Carlsson, G., Fasth, A., Berglöf, E., Lagerstedt-Robinson, K., Nordenskjöld, M., Palmblad, J., Henter, J.-I. and Fadeel,, B. (2012), Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. British Journal of Haematology, 158: 363–369. doi: 10.1111/j.1365-2141.2012.09171.x

Author Information

  1. 1

    Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden

  2. 2

    Department of Paediatrics, University of Gothenburg, Gothenburg, Sweden

  3. 3

    Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Centre for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden

  4. 4

    Departments of Medicine and Haematology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden

  5. 5

    Division of Molecular Toxicology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden

  1. †

    These authors have contributed equally as senior authors.

*Correspondence: Göran Carlsson, MD, PhD, Childhood Cancer Research Unit, Karolinska University Hospital, Q6:05, SE-171 76 Stockholm, Sweden.
E-mail: goran.carlsson@ki.se

  1. †

    These authors have contributed equally as senior authors.

Publication History

  1. Issue published online: 12 JUL 2012
  2. Article first published online: 25 MAY 2012
  3. Manuscript Accepted: 11 APR 2012
  4. Manuscript Received: 30 JAN 2012

Funded by

  • Swedish Children's Cancer Foundation
  • Swedish Cancer Foundation
  • Swedish Research Council
  • Stockholm County Council

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Keywords:

  • severe congenital neutropenia;
  • incidence;
  • ELANE;
  • HAX1;
  • leukaemia

Summary

Severe congenital neutropenia (SCN) is characterized by low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. As yet, no population-based incidence estimates of SCN have been reported. Children less than 16 years of age with SCN were sought in Sweden during the 20-year period 1987–2006 by a questionnaire to all Swedish Departments of Paediatrics and by reviewing the Swedish Health and Welfare Statistical Databases. Thirty-two patients were diagnosed with congenital neutropenia during this period. All received treatment with recombinant granulocyte-colony stimulating factor (G-CSF). Twenty-one patients were diagnosed as SCN or probable SCN, corresponding to 1·0 per 100 000 live births. Nine (43%) had ELANE mutations, four (19%) HAX1 mutations and eight (38%) were children with disease of unknown genetic aetiology. Four out of 21 patients (19%) developed myelodysplastic syndrome/leukaemia and three (14%) died, all with leukaemia. The cumulative incidence of myelodysplastic syndrome/leukaemia was 31%. The observed incidence of SCN in this population-based study was higher than previously estimated, possibly because genetic testing now can identify SCN cases previously thought to be idiopathic or benign neutropenia. The risk of developing myelodysplastic syndrome/leukaemia is considerable. ELANE mutations are the most commonly identified genetic defects.

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