Relevance of JAK2V617F positivity to hematological diseases - Survey of samples from a clinical genetics laboratory

Wanming Zhao, Rufei Gao, Jiyun Lee, Shu Xing, Wanting T. Ho, Xueqi Fu, Shibo Li, Zhizhuang J. Zhao

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Background: JAK2V617F is found in the majority of patients with Ph- myeloproliferative neoplasms (MPNs) and has become a valuable marker for diagnosis of MPNs. However, it has also been found in many other hematological diseases, and some studies even detected the presence of JAK2V617F in normal blood samples. This casts doubt on the primary role of JAK2V617F in the pathogenesis of MPNs and its diagnostic value. Methods. In the present study, we analyzed JAK2V617F positivity with 232 normal blood samples and 2663 patient blood, bone marrow, and amniotic fluid specimens obtained from a clinical genetics laboratory by using a simple DNA extraction method and a sensitive nested allele-specific PCR strategy. Results: We found JAK2V617F present in the majority (78%) of MPN patients and in a small fraction (1.8-8.7%) of patients with other specific hematological diseases but not at all in normal healthy donors or patients with non-hematological diseases. We also revealed associations of JAK2V617F with novel as well as known chromosomal abnormalities. Conclusions: Our study suggests that JAK2V617F positivity is associated with specific hematological malignancies and is an excellent diagnostic marker for MPNs. The data also indicate that the nested allele-specific PCR method provides clinically relevant information and should be conducted for all cases suspected of having MPNs as well as for other related diseases.

Original languageEnglish
Article number4
JournalJournal of Hematology and Oncology
Publication statusPublished - 2011
Externally publishedYes

Bibliographical note

Funding Information:
This work was supported by grants HL079441 and HL094591 from the National Institutes of Health, a grant from Oklahoma Center for the Advancement of Science & Technology, and a Boyou fund from China Soong Ching Ling Foundation (to ZJ Zhao).

ASJC Scopus subject areas

  • Molecular Biology
  • Hematology
  • Oncology
  • Cancer Research


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