The incidence of JAK2 V617F mutation in bcr/abl-negative chronic myeloproliferative disorders: Assessment by two different detection methods

Eugenio Lucia, Bruno Martino, Corrado Mammi, Ernesto Vigna, Carla Mazzone, Massimo Gentile, Gabriele Qualtieri, Maria Grazia Bisconte, Maria Naccarato, Carlo Gentile, Carmelo Laganà, Francesco Romeo, Antonino Neri, Francesco Nobile, Fortunato Morabito

Research output: Contribution to journalArticle

Abstract

A recurrent specific JAK2 V617F mutation has been reported in bcr/abl-negative chronic myeloproliferative diseases (cMPD), including polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). The mutation is detectable in a variable proportion of neoplastic clones, depending on the molecular methods employed. In this study, we attempted to establish the JAK2 V617F mutation frequency in two partially overlapping cMPD patient series by two different PCR-based techniques. Using an allele-specific polymerase chain reaction assay (AS-PCR), the JAK2 V617F mutation was detected in 124/158 (78.5%) cMPD patients; in particular, 90.2, 72.1, 63.2 and 50% of PV, ET, IMF and unclassified (U)-MPD cases, respectively, showed the mutation. Employing a semiquantitative 5' fluorogenic TaqMan assay, the JAK2 V617F mutation was identified in a much larger percentage of cMPDs patients (118/127: 92.9%). Rates of mutation in PV, ET, IMF and U-MPD cases were 95.9, 85.7, 91.7 and 92.9%, respectively. Furthermore, a statistically higher percentage of JAK2 mutated alleles was detected by TaqMan assay in PV (68 ± 3.5, mean value ± SEM) and IMF (64 ± 9.3) cases as compared with ET (35 ± 5.4). Finally, a significant correlation between JAK2 V617F mutational status and hematocrit (Ht), white blood cell and platelet counts in PV patients, and Ht values in ET cases, was observed by AS-PCR. Overall, these data indicate that TaqMan technology significantly improved sensitivity in detecting the JAK2 mutation in cMPD patients and may be worth of further evaluations as a clinically useful tool for detection of small amounts of mutated clones.

Original languageEnglish
Pages (from-to)1907-1915
Number of pages9
JournalLeukemia and Lymphoma
Volume49
Issue number10
DOIs
Publication statusPublished - 2008

Keywords

  • Allele-specific polymerase chain reaction
  • bcr/abl-negative chronic myeloproliferative disorders
  • JAK2 V617F mutation
  • Polycythemia vera
  • TaqMan assay

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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  • Cite this

    Lucia, E., Martino, B., Mammi, C., Vigna, E., Mazzone, C., Gentile, M., Qualtieri, G., Bisconte, M. G., Naccarato, M., Gentile, C., Laganà, C., Romeo, F., Neri, A., Nobile, F., & Morabito, F. (2008). The incidence of JAK2 V617F mutation in bcr/abl-negative chronic myeloproliferative disorders: Assessment by two different detection methods. Leukemia and Lymphoma, 49(10), 1907-1915. https://doi.org/10.1080/10428190802290652