Rapid identification of heterozygous or homozygous JAK2(V617F) mutations in myeloproliferative neoplasms using melting curve analysis.

  title={Rapid identification of heterozygous or homozygous JAK2(V617F) mutations in myeloproliferative neoplasms using melting curve analysis.},
  author={Ching Liang Ho and Yi-Ying Wu and Hsiu Man Hung and Ping-Ying Chang and W. Y. Kao and Yeu-Chin Chen and Tsu Yi Chao},
  journal={Journal of the Formosan Medical Association = Taiwan yi zhi},
  volume={111 1},
  • C. Ho, Yi-Ying Wu, +4 authors T. Chao
  • Published 2012
  • Medicine
  • Journal of the Formosan Medical Association = Taiwan yi zhi
BACKGROUND/PURPOSE The activating JAK2 mutation with a G-C to T-A transversion at codon 617 (JAK2(V617F)) is associated with myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis. Here, we report a technical advance in the diagnosis of JAK2(V617F) in MPNs by melting curve analysis (MCA). METHODS From January through December 2006, we prospectively enrolled 78 patients with PV (n = 21), ET (n = 32), myelofibrosis (n = 5… 
JAK2V617F Allele Burden Measurement in Peripheral Blood of Iranian Patients with Myeloproliferative Neoplasms and Effect of Hydroxyurea on JAK2V617F Allele Burden
The study demonstrated that the JAK2V617F allele burden correlates with clinical features in ET group, and showed hydroxyurea can affect the Jak2 V617f allele burden in PV patients.
Impact of JAK2V617F Mutational on Haematologic Features in Sudanese Patients with Essential Thrombocythemia and Thrombotic Risk Assessment
The JAK2 V617F homozygosity correlated with older age, higher leukocyte count, lower Hb concentration, and a higher risk of thrombosis in Sudanese ET patients.
Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2, CALR and MPL mutations: 2000–2018
Given the specificity and reported high frequencies of the JAK2V617F, MPL and CALR mutations in this group of neoplasms, the diagnosis of these diseases should not be made on clinical and hematological characteristics alone but should include genetic screening of patients.
Novel high-speed droplet-allele specific-polymerase chain reaction: application in the rapid genotyping of single nucleotide polymorphisms.
A novel droplet-AS-PCR assay enabled high-speed amplification retaining specificity and sensitivity and provided ultra-rapid genotyping and the detection of single nucleotide alterations.
Stress-induced phosphoprotein-1 maintains the stability of JAK2 in cancer cells
It is shown that STIP1 stabilizes JAK2 protein in ovarian and endometrial cancer cells and modulates the function of the HSP90-JAK2-STAT3 complex.


The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes.
The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders.
Identification of the JAK2 V617F mutation in chronic myeloproliferative disorders using FRET probes and melting curve analysis.
A real-time polymerase chain reaction assay using fluorescent hybridization probes and melting curve analysis is developed and validated to identify the JAK2 V617F mutation, which is implicated in a substantial proportion of chronic myeloproliferative disorders.
JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia.
It is concluded that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias.
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
Genetic evidence and in vitro functional studies indicate that V617F gives hematopoietic precursors proliferative and survival advantages and a high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
A single acquired mutation of JAK2 was noted in more than half of patients with a myeloproliferative disorder and its presence in all erythropoietin-independent erythroid colonies demonstrates a link with growth factor hypersensitivity, a key biological feature of these disorders.
Detection of the JAK2(V617F) mutation in myeloproliferative disorders by melting curve analysis using the LightCycler system.
The semiquantitative detection of JAK2(V617F) in archived specimens provides a new tool for studying the prognostic significance of this mutation, and the suitability of the real-time polymerase chain reaction melting curve analysis assay for molecular diagnostics testing is demonstrated.
Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal
JAK2 and MPL mutations are recurrent in myeloproliferative neoplasms (MPNs). A JAK2 mutation, primarily JAK2V617F, is almost invariably associated with polycythemia vera (PV). However, JAK2V617F also
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
High-throughput DNA resequencing identified a recurrent somatic missense mutation JAK2V617F in granulocyte DNA samples of 121 of 164 PV patients, of which 41 had homozygous and 80 had heterozygous mutations.
JAK2V617F mutation in essential thrombocythaemia: clinical associations and long‐term prognostic relevance
Although the presence of JAK2V617F in ET appears to promote a PV phenotype, it might not carry treatment‐relevant information as independent predictors of inferior survival, and Multivariate analysis identified advanced age, higher haemoglobin level, and thrombosis history but not the presence.
The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia.
Data indicate that the JAK2V617F allele is present in acute and chronic myeloidmalignancies but not in lymphoid malignancies.