Myeloproliferative neoplasms 2012: The John M. Bennett 80th birthday anniversary lecture

Tefferi, Ayalew

doi:10.1016/j.leukres.2012.08.011

Cited by 19 publications

(18 citation statements)

References 93 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These differences could be explained with variable number of analyzed cases and the differences in sensitivity and specificity of methods (ARMS) applied for detection of JAK2-V617F mutation [17], [18].…”

Section: Discussionmentioning

confidence: 99%

Estimate of JAK 2 V617F Mutation and Activity of Catalase Enzyme in Myeloproliferative Neoplasm

Abdullah¹,

Saifullah²,

Shebib³

et al. 2016

JNUS

View full text Add to dashboard Cite

Background: Myeloproliferative neoplasms (MPNs) are a range of clonal hematological diseases with overlapping features, a specific mutation in the JAK2 gene, which encodes a tyrosine Kinase has been shown to be associated with the myeloproliferative phenotypes (PV, ET and PMF). Aim: Estimate the proportion of JAK2 V617F mutant gene and estimate the significance of antioxidant enzyme (Catalase) is mainly associated with increased oxidative stress this is resulting increase of the free oxygen radicals and relate it with suspected myeloproliferative neoplasms (MPNs) in Iraqi patients. Materials and Methods: Total of (51) patients with suspected myeloproliferative neoplasms (MPNs) and 20 healthy individuals were analyzed for the JAK2 V617F mutation. After DNA extraction, detection of the mutation was done using (ARMS) PCR amplification, activity of Catalase was measured spectrophotometrically. Results: Of 51 patients, the JAK2 V617F mutation (V617F) was detected in 33 out of 42, with PV (81%), and four of patients with ET and PMF (40% and 50%, respectively). The prevalence of this mutation is more associated with male than female about (62%). Catalase activity was found highly significant (P< 0.01) among suspected MPN patients when compared with control group. Conclusion: JAK2 V617F mutation screening can be incorporated in the initial estimate of patients suspected of having MPNs. Catalase enzyme used a biomarker of enzymatic alteration in MPN Iraqi patients.

show abstract

Section: Discussionmentioning

confidence: 99%

Estimate of JAK 2 V617F Mutation and Activity of Catalase Enzyme in Myeloproliferative Neoplasm

Abdullah¹,

Saifullah²,

Shebib³

et al. 2016

JNUS

View full text Add to dashboard Cite

show abstract

“…TET2, ASXL1, DNMT3A and IDH1/2) are mutated in PMF [20,40], it is, therefore, conceivable that PDGFB hypomethylation represent the effect of acquired DNA mutations that characterise a subset of cases with favourable prognosis.…”

Section: Discussionmentioning

confidence: 99%

PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis

et al. 2015

View full text Add to dashboard Cite

“…The JAK family proteins (JAKs) are cytoplasmic tyrosine kinases that play important roles in cytokine receptor superfamily signaling which are crucial for normal hematopoiesis. Aberrant hyperactivation of JAK signaling pathway has increasingly been implicated in the pathogenesis of hematopoietic malignancies [1,4,5]. The JAK2 V617F mutation leads to a constitutively active JAK2 kinase signaling by abrogating the negative regulatory activity of the pseudokinase domain JH2 of the encoded JAK2 tyrosine kinase.…”

Section: Discussionmentioning

confidence: 99%

“…Almost all patients with PV harbor a JAK2 mutation that includes JAK2 V617F in about 97% of the patients. JAK2 V617F also occurs in approximately 40-60% of patients with ET or PMF [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

Myeloproliferative Neoplasm or Reactive Process? A Rare Case of Acute Myeloid Leukemia and Transient Post-Treatment Megakaryocytic Hyperplasia with JAK-2 Mutation

Yan

Wang

Heintzelman

et al. 2014

American Journal of Clinical Pathology

View full text Add to dashboard Cite

Myeloproliferative neoplasms (MPNs) are hematopoietic malignancies characterized by unchecked proliferation of differentiated myeloid cells. The most common BCR-ABL1-negative MPNs are polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The discovery of JAK2 V617F mutation has improved our understanding of the molecular basis of MPN. The high frequency of JAK2 mutation in MPN makes JAK2 mutation testing an essential diagnostic tool and potential therapeutic target for MPN. Here, we present a rare case of a 34-year-old patient who was initially diagnosed with acute myeloid leukemia (AML) with mutated NPM1. After chemotherapy treatment followed by granulocyte colony stimulating factor administration, the patient achieved complete remission of AML. However, the bone marrow showed hypercellularity with granulocytic hyperplasia, markedly increased atypical megakaryocytes (50.2/HPF) with focal clustering, and reticulin fibrosis (3/4). JAK2 V617F mutation was also detected. Considering the possibility of AML transformed from a previous undiagnosed MPN, patient underwent peripheral blood allogenic stem cell transplant. This case illustrates the diagnostic challenges of firmly establishing a diagnosis between similar, but distinct, disease entities and an accurate clinicopathological differentiation is crucial.

show abstract

Myeloproliferative neoplasms 2012: The John M. Bennett 80th birthday anniversary lecture

Cited by 19 publications

References 93 publications

Estimate of JAK 2 V617F Mutation and Activity of Catalase Enzyme in Myeloproliferative Neoplasm

Estimate of JAK 2 V617F Mutation and Activity of Catalase Enzyme in Myeloproliferative Neoplasm

PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis

Myeloproliferative Neoplasm or Reactive Process? A Rare Case of Acute Myeloid Leukemia and Transient Post-Treatment Megakaryocytic Hyperplasia with JAK-2 Mutation

Contact Info

Product

Resources

About