Epidemiology

In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Fig. 1: Pedigree diagrams of four multiplex HCL families.
Fig. 2: Caspase-9 and caspase-3/7 activities in staurosporine-treated CRISPR-unedited HCT116 cells and in HCT116 cells carrying caspase-9 p.H237P and p.R192C substitutions.

References

  1. 1.

    Getta BM, Park JH, Tallman MS. Hairy cell leukemia: Past, present and future. Best Pract Res Clin Haematol. 2015;28:269–72.

  2. 2.

    Moormeier JA, Neilly ME, Vardiman JW, Le Beau MM, Golomb HM. Familial lymphoproliferative disorders with chromosomal fragile site analysis. Leuk Lymphoma. 1991;5:311–6.

  3. 3.

    Rumi E, Passamonti F, Zibellini S, Martinetti M, Arcaini L, Elena C, et al. HLA typing and VH gene rearrangement analysis in a family with hairy cell leukaemia. Leuk Lymphoma. 2007;48:805–7.

  4. 4.

    Villemagne B, Bay J-O, Tournilhac O, Chaleteix C, Travade P. Two new cases of familial hairy cell leukemia associated with HLA haplotypes A2, B7, Bw4, Bw6. Leuk Lymphoma. 2005;46:243–5.

  5. 5.

    Wylin RF, Greene MH, Palutke M, Khilanani P, Tabaczka P, Swiderski G. Hairy cell leukemia in three siblings: an apparent HLA-linked disease. Cancer. 1982;49:538–42.

  6. 6.

    Tiacci E, Trifonov V, Schiavoni G, Holmes A, Kern W, Martelli MP, et al. BRAF mutations in hairy-cell leukemia. N Eng J Med. 2011;364:2305–15.

  7. 7.

    Los M, and Waczak, H. Not Only Death Molecules (Review on “Caspases: their role in cell death and cell survival” Landes Bioscience, Georgetown, TX; Kluwer Academic/Plenum Publishers, New York, 2002, 273). Springer Nature; 2004.

  8. 8.

    Renatus M, Stennicke HR, Scott FL, Liddington RC, Salvesen GS. Dimer formation drives the activation of the cell death protease caspase 9. Proc Natl Acad Sci. 2001;98:14250–5.

  9. 9.

    Wilson KP, Black J-AF, Thomson JA, Kim EE, Griffith JP, Navia MA, et al. Structure and mechanism of interleukin-lβ converting enzyme. Nature. 1994;370:270–5.

  10. 10.

    Galdiero MR, Varricchi G, Loffredo S, Mantovani A, Marone G. Roles of neutrophils in cancer growth and progression. J Leuk Biol. 2018;103:457–64.

  11. 11.

    Dasanu CA, Ichim TE, Alexandrescu DT. Inherent and iatrogenic immune defects in hairy cell leukemia: revisited. Expert Opin Drug Saf. 2010;9:55–64.

  12. 12.

    Dalal I, Grunebaum E, Cohen A, Roifman CM. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet. 2001;59:430–7.

  13. 13.

    Clemente N, Boggio E, Gigliotti CL, Orilieri E, Cappellano G, Toth E, et al. A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation. Genes Immun. 2015;16:151–61.

  14. 14.

    Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature. 2012;481:157–63.

Download references

Acknowledgements

This project was supported by the Division of Cancer Epidemiology and Genetics of the National Cancer Institute, Rockville, MD. This project has been funded in whole or in part with Federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. This work utilized the computational resources of the NIH High Performance Computing Biowulf cluster. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government. The Vancouver Lymphoid Cancer Families Study is supported by the Canadian Institutes for Health Research, MOP-130311, and the BC Cancer Foundation. The Vancouver NHL case-control study was supported by the Canadian Cancer Society through the National Cancer Institute of Canada, and the Canadian Institutes of Health Research. The authors thank Joseph M. Connors, MD for his help in initiating the Vancouver Lymphoid Cancer Families Study and referral of one of the families with two affected individuals. The authors would like to thank Katharine Beebe, MPH, Westat, Inc., Rockville, MD, for her help with Fig. 1 preparation.

NCI DCEG Cancer Genomics Research Laboratory

Belynda D. Hicks14, Amy H. Hutchinson14, Michelle Manning14, Aurelie Vogt14, Kristine Jones14, Russell Williams14, Kedest Teshome14, Herb Higson14, Joseph Boland14, Sara Bass14, Bin Zhu14, Wen Luo14, Mingyi Wang14, Dongjing Wu14

Author information

Affiliations

Author notes

  1. Members of the NCI DCEG Cancer Genomics Research Laboratory are listed below Acknowledgements.

    • Deceased: Henry T. Lynch

      • Henry T. Lynch
    Authors

    Consortia

    Corresponding author

    Correspondence to Douglas R. Stewart.

    Ethics declarations

    Conflict of interest

    The authors declare that they have no conflict of interest.

    Additional information

    Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

    Members of the NCI DCEG Cancer Genomics Research Laboratory are listed below Acknowledgements.

    Supplementary information

    Rights and permissions

    Reprints and Permissions

    About this article

    Verify currency and authenticity via CrossMark

    Cite this article

    Pemov, A., Pathak, A., Jones, S.J. et al. In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees. Leukemia (2020). https://doi.org/10.1038/s41375-019-0702-7

    Download citation

    Further reading