JAK2 V617F mutation in patients with catastrophic intra-abdominal thromboses

Christine McMahon, Kareem Abu-Elmagd, Franklin A. Bontempo, Jeffrey A. Kant, Steven H. Swerdlow

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including polycythemia vera and essential thrombocythemia, both of which are frequently associated with an acquired mutation (V617F) in the JAK2 gene. To assess the prevalence and clinical implications of this mutation in the setting of intra-abdominal thrombosis, JAK2 V617F genotyping was performed in 42 patients who had catastrophic intra-abdominal thromboses resulting in visceral transplants. The prevalence of V617F was compared with that of other prothrombotic states for which molecular testing is routinely performed. V617F mutations were detected in 7 patients (17%), who were not distinguishable on the basis of their peripheral blood cell counts. The median posttransplantation survival of V617F+ patients was 17.5 months, compared with 116.4 months for the V617F- patients (ratio, 6.6; 95% confidence interval, 6.3-7.0). These results highlight the diagnostic usefulness of JAK2 V617F testing in this setting and underscore the clinical significance of a positive result.

Original languageEnglish (US)
Pages (from-to)736-743
Number of pages8
JournalAmerican Journal of Clinical Pathology
Volume127
Issue number5
DOIs
StatePublished - May 2007
Externally publishedYes

Fingerprint

Thrombosis
Mutation
Essential Thrombocythemia
Polycythemia Vera
Blood Cell Count
Confidence Intervals
Transplants
Survival
Genes

Keywords

  • Chronic myeloproliferative disorder
  • JAK2
  • Thrombosis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

McMahon, C., Abu-Elmagd, K., Bontempo, F. A., Kant, J. A., & Swerdlow, S. H. (2007). JAK2 V617F mutation in patients with catastrophic intra-abdominal thromboses. American Journal of Clinical Pathology, 127(5), 736-743. https://doi.org/10.1309/JA1WD8JNVLGYNQYE

JAK2 V617F mutation in patients with catastrophic intra-abdominal thromboses. / McMahon, Christine; Abu-Elmagd, Kareem; Bontempo, Franklin A.; Kant, Jeffrey A.; Swerdlow, Steven H.

In: American Journal of Clinical Pathology, Vol. 127, No. 5, 05.2007, p. 736-743.

Research output: Contribution to journalArticle

McMahon, C, Abu-Elmagd, K, Bontempo, FA, Kant, JA & Swerdlow, SH 2007, 'JAK2 V617F mutation in patients with catastrophic intra-abdominal thromboses', American Journal of Clinical Pathology, vol. 127, no. 5, pp. 736-743. https://doi.org/10.1309/JA1WD8JNVLGYNQYE
McMahon, Christine ; Abu-Elmagd, Kareem ; Bontempo, Franklin A. ; Kant, Jeffrey A. ; Swerdlow, Steven H. / JAK2 V617F mutation in patients with catastrophic intra-abdominal thromboses. In: American Journal of Clinical Pathology. 2007 ; Vol. 127, No. 5. pp. 736-743.
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