Clinical correlates of JAK2V617F allele burden in essential thrombocythemia

Jaya Kittur, Ryan A. Knudson, Terra L. Lasho, Christy M. Finke, Naseema Gangat, Alexandra P. Wolanskyj, Chin Yang Li, Wenting Wu, Rhett P. Ketterling, Animesh Pardanani, Ayalew Tefferi

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129 Scopus citations


BACKGROUND. JAK2V617F occurs in approximately 50% of patients with essential thrombocythemia (ET). Qualitative studies of mutation analysis have previously reported an association between JAK2V617F and advanced age, higher hemoglobin level, higher leukocyte count, and lower platelet count. A possible association with thrombotic complication has also been considered. METHODS. Allele-specific, quantitative polymerase chain reaction (PCR) analysis for JAK2V617F was performed in 176 patients with ET using genomic DNA from archived bone marrow, which was collected within 1 year (n = 72 patients), between 1 and 5 years (n = 64 patients), or after 5 years (n = 40 patients) of diagnosis. RESULTS. JAK2V617F was detected in 96 patients (55%), in whom mutant allele burden ranged from 1% to 100% (median, 6.3%). Neither mutational frequency (P = .37) nor mutant allele burden (P = .62) was affected by the timing of bone marrow sample collection. The presence of JAK2V617F was found to be significantly associated with higher hemoglobin level (P < .0001), lower platelet count (P = .001), higher leukocyte count (P = .008), increased incidence of venous thrombosis occurring after diagnosis (P = .02), and older age at diagnosis (P = .03). All but age retained significance in multivariable analysis. In mutation-positive patients (n = 96 patients), JAK2V617F allele burden clustered between 1% and 22% in 94 cases, in whom it correlated directly and significantly with platelet and leukocyte counts, palpable splenomegaly at diagnosis, and venous thrombosis occurring after diagnosis. The latter 2 associations remained significant with the inclusion of the remaining 2 outlier cases with 100% mutant allele burden; in addition, an association with male gender became evident. CONCLUSIONS. JAK2V617F allele burden imparts additional phenotypic effects in ET.

Original languageEnglish (US)
Pages (from-to)2279-2284
Number of pages6
Issue number11
StatePublished - Jun 1 2007


  • Allele burden
  • Essential thrombocythemia
  • JAK2V617F

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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