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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter

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

Leonardo Campiotti / 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
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Matteo B. SuterORCID iD: https://orcid.org/0000-0002-9139-7538 / Luigina Guasti / 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
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2019-07-24 | DOI: https://doi.org/10.1515/cclm-2019-0158


  • 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.CrossrefPubMedWeb of ScienceGoogle Scholar

  • 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.CrossrefPubMedWeb of ScienceGoogle Scholar

  • 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.PubMedCrossrefWeb of ScienceGoogle Scholar

  • 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.CrossrefGoogle Scholar

  • 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.PubMedCrossrefGoogle Scholar

  • 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.Web of SciencePubMedCrossrefGoogle Scholar

  • 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.CrossrefPubMedGoogle Scholar

  • 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.PubMedCrossrefWeb of ScienceGoogle Scholar

  • 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.CrossrefWeb of SciencePubMedGoogle Scholar

  • 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.Google Scholar

  • 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.PubMedCrossrefGoogle Scholar

  • 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.CrossrefPubMedGoogle Scholar

  • 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.Web of ScienceCrossrefGoogle Scholar

  • 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.CrossrefWeb of ScienceGoogle Scholar

  • 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.Web of ScienceCrossrefPubMedGoogle Scholar

About the article

Corresponding author: Matteo B. Suter, MD, UO Oncologia Medica, Medical Oncology, Ospedale di Circolo e Fondazione Macchi, ASST Sette laghi, Viale Borri 57, Varese 21100, Italy, Phone: +39-0332-278558

Received: 2019-02-13

Accepted: 2019-07-02

Published Online: 2019-07-24

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), 20190158, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm-2019-0158.

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