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Familial polycythemia vera with non-germ line JAK2V617F mutation sparing the abnormal and clonal granulopoiesis

Leukemia volume 21, pages 2566–2568 (2007)Cite this article

Recently, Bellanné-Chantelot and co-workers have studied a series of 72 families with Philadelphia-chromosome-negative chronic myeloproliferative disorders (Ph− CMPD) and found constant JAK2V617F mutation in 22 families.1 Although the distribution of Ph− CMPD phenotypes within families suggested autosomal-dominant inheritance with incomplete penetrance, the absence of the JAK2V617F mutation both in purified B/T lymphocytes in 13 unrelated patients and variable ratios of the mutant allele in peripheral leukocytes indicated that JAK2V617F was acquired and not transmitted by germ line.1

We present a case of familial Ph− CMPD with JAK2V617F mutation revealing different patterns of hematopoietic lineage involvement. The somatic nature of the mutation could be proven by comparison with non-hematopoietic tissues.

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References

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Acknowledgements

This study was supported by grants from Deutsche Krebshilfe, Dr Mildred Scheel Stiftung 10-2191 (OB, HK) and Deutsche Forschungsgemeinschaft –DFG BO 1954/1-1 (OB, HK).

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Authors and Affiliations

  1. Institute of Pathology, Hannover Medical School, Hannover, Germany

    K Hussein, O Bock, U Lehmann, T Buhr & H Kreipe

  2. Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany

    M Ballmaier

  3. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany

    G Göhring & D Steinemann

  4. Medical Practice for Hematology and Oncology, Iserlohn, Germany

    J Kemper

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  1. K Hussein
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  2. O Bock
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  3. M Ballmaier
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  4. G Göhring
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  8. T Buhr
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  9. H Kreipe
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Correspondence to H Kreipe.

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Hussein, K., Bock, O., Ballmaier, M. et al. Familial polycythemia vera with non-germ line JAK2V617F mutation sparing the abnormal and clonal granulopoiesis. Leukemia 21, 2566–2568 (2007). https://doi.org/10.1038/sj.leu.2404846

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