JAK2, 46/1 haplotype and chronic myelogenous leukemia: diagnostic and therapeutic potential

Leonardo Campiotti 1 , Lorenzo Elli 1 , 2 , Matteo B. Suterhttp://orcid.org/https://orcid.org/0000-0002-9139-7538 3 , Luigina Guasti 1  and Francesco Pallotti 1 , 2
  • 1 Department of Medicine and Surgery, Università degli Studi dell’Insubria, Varese, Italy
  • 2 SSD Laboratorio Analisi – SMEL Specializzato in Citogenetica e Genetica Medica, ASST Sette laghi, Varese, Italy
  • 3 UO Oncologia Medica, Medical Oncology, Ospedale di Circolo e Fondazione Macchi, ASST Sette laghi, Viale Borri 57, Varese 21100, Italy
Leonardo Campiotti
  • Department of Medicine and Surgery, Università degli Studi dell’Insubria, Varese, Italy
  • Search for other articles:
  • degruyter.comGoogle Scholar
, Lorenzo Elli
  • Department of Medicine and Surgery, Università degli Studi dell’Insubria, Varese, Italy
  • SSD Laboratorio Analisi – SMEL Specializzato in Citogenetica e Genetica Medica, ASST Sette laghi, Varese, Italy
  • Search for other articles:
  • degruyter.comGoogle Scholar
, Matteo B. SuterORCID iD: https://orcid.org/0000-0002-9139-7538, Luigina Guasti
  • Department of Medicine and Surgery, Università degli Studi dell’Insubria, Varese, Italy
  • Search for other articles:
  • degruyter.comGoogle Scholar
and Francesco Pallotti
  • Department of Medicine and Surgery, Università degli Studi dell’Insubria, Varese, Italy
  • SSD Laboratorio Analisi – SMEL Specializzato in Citogenetica e Genetica Medica, ASST Sette laghi, Varese, Italy
  • Search for other articles:
  • degruyter.comGoogle Scholar

If the inline PDF is not rendering correctly, you can download the PDF file here.

  • 1.

    Jones AV, Chase A, Silver RT, Oscier D, Zoi K, Wang YL, et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 2009;41:446–9.

    • Crossref
    • PubMed
    • Export Citation
  • 2.

    Macedo LC, Santos BC, Pagliarini-e-Silva S, Pagnano KB, Rodrigues C, Quintero FC, et al. JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Brazilian patients. Int J Lab Hematol 2015;37:654–60.

    • Crossref
    • PubMed
    • Export Citation
  • 3.

    Villani L, Bergamaschi G, Primignani M, Rosti V, Carolei A, Poletto V, et al. JAK2 46/1 haplotype predisposes to splanchnic vein thrombosis-associated BCR-ABL negative classic myeloproliferative neoplasms. Leuk Res 2012;36:e7–9.

    • Crossref
    • PubMed
    • Export Citation
  • 4.

    Rowley JD. Letter: a new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973;243:290–3.

    • Crossref
    • Export Citation
  • 5.

    Heisterkamp N, Stephenson JR, Groffen J, Hansen PF, de Klein A, Bartram CR, et al. Localization of the c-AB1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia. Nature 1983;306:239–42.

    • Crossref
    • PubMed
    • Export Citation
  • 6.

    Martin-Cabrera P, Haferlach C, Kern W, Schnittger S, Haferlach T. BCR-ABL1-positive and JAK2 V617F-positive clones in 23 patients with both aberrations reveal biologic and clinical importance. Br J Haematol 2017;176:135–9.

    • Crossref
    • PubMed
    • Export Citation
  • 7.

    Campiotti L, Appio L, Solbiati F, Ageno W, Venco A. JAK2-V617F mutation and Philadelphia positive chronic myeloid leukemia. Leuk Res 2009;33:e212–3.

    • Crossref
    • PubMed
    • Export Citation
  • 8.

    Spolverini A, Jones AV, Hochhaus A, Pieri L, Cross NC, Vannucchi AM. The myeloproliferative neoplasm-associated JAK2 46/1 haplotype is not overrepresented in chronic myelogenous leukemia. Ann Hematol 2011;90:365–6.

    • Crossref
    • PubMed
    • Export Citation
  • 9.

    Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008;22:14–22.

    • Crossref
    • PubMed
    • Export Citation
  • 10.

    Michiels JJ, Ten Kate F, Lam KH, Schroyens W, Berneman Z, De Raeve H. The European Clinical Molecular and Pathological (ECMP) criteria and the 2007/2008 revisions of the World Health Organization (WHO) for the diagnosis, classification and staging of prefibrotic myeloproliferative neoplasms carrying the JAK2V617F mutation. Turk J Hematol 2014;31:136–42.

  • 11.

    van Dongen JJ, Macintyre EA, Gabert JA, Delabesse E, Rossi V, Saglio G, et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Leukemia 1999;13:1901–28.

    • Crossref
    • PubMed
    • Export Citation
  • 12.

    Gabert J, Beillard E, van der Velden VH, Bi W, Grimwade D, Pallisgaard N, et al. Standardization and quality control studies of ‘real-time’ quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia – a Europe Against Cancer program. Leukemia 2003;17:2318–57.

    • Crossref
    • PubMed
    • Export Citation
  • 13.

    http://www.internationalgenome.org/1000-genomes-browsers/. Accessed on 25 Nov 2018.

  • 14.

    Anelli L, Zagaria A, Specchia G, Albano F. The JAK2 GGCC (46/1) haplotype in myeloproliferative neoplasms: causal or random? Int J Mol Sci 2018;19:1152.

    • Crossref
    • Export Citation
  • 15.

    Campiotti L, Suter MB, Guasti L, Piazza R, Gambacorti-Passerini C, Grandi AM, et al. Imatinib discontinuation in chronic myeloid leukaemia patients with undetectable BCR-ABL transcript level: a systematic review and a meta-analysis. Eur J Cancer 2017;77:48–56.

    • Crossref
    • Export Citation
  • 16.

    Baccarani M, Deininger MW, Rosti G, Hochhaus A, Soverini S, Apperley JF, et al. European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013. Blood 2013;122:872–84.

    • Crossref
    • PubMed
    • Export Citation
Purchase article
Get instant unlimited access to the article.
$42.00
Log in
Already have access? Please log in.


or
Log in with your institution

Journal + Issues

Clinical Chemistry and Laboratory Medicine ( CCLM) publishes articles on novel teaching and training methods applicable to laboratory medicine. CCLM welcomes contributions on the progress in fundamental and applied research and cutting-edge clinical laboratory medicine. It is one of the leading journals in the field, with an impact factor of over three. CCLM is the official journal of nine national clinical societies and associated with EFLM.

Search