Influence of JAK2V617F allele burden on clinical phenotype of polycythemia vera patients: A study from India
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Elevated JAK2V617F allele burden is associated with enhanced expression of downstream target genes in Philadelphia negative chronic myeloproliferative neoplasms (CMPNs) which include PV, ET & PMF. Previous studies have shown the impact of JAK2V617F allele burden on clinical phenotype of CMPNs. However, there is no data from India regarding the association between JAK2V617F allele burden and clinical phenotype in PV.We aimed to investigate the effect of allele burden on clinical phenotype in 90 JAK2V617F positive PV patients and to see its influence on disease related complications.Allele burden of 90 JAK2V617F positive PV patients was quantified by Real-time polymerase chain reaction (RQ-PCR).74/90 (82.22%) were males and 16/90 (17.78%) were females (median 45 years, range 35-78). Patients with age >50 years had significantly higher JAK2V617F allele burden (median 40.15%, range 0.49-91.62 %) than patients with ≤ 50 years age (median 48.59 %, range 0.56-86.74 %; P < 0.032). Patients with splenomegaly had significantly higher JAK2V617F allele burden (mean 50.24%, range 6.91-84.17%) than patients without splenomegaly (mean 33.82 %, range 0.49-71.83 %; P < 0.017). Patients with higher allele burden (median 57.20, range 43.4-72.03%) had significantly raised thrombotic events than the patients with lower allele burden (median 37.38, range 0.49-84.17%; P < 0.043). 49/90 (54%) were homozygous and 41/90 (46%) were heterozygous.Higher JAK2V617F allele burden showed association with increased age, splenomegaly and thrombotic events. Thus, it may be considered for prognostication and setting up the treatment protocol in PV patients.A patient with polycythemia vera was treated with sodium phosphate P 32. The polycythemia vera converted to chronic Di Guglielmo's syndrome, with dwarfed binucleate megakaryocytes, and the patient died of acute myeloid leukemia.
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A patient with polycythemia vera was treated with sodium phosphate P 32. The polycythemia vera converted to chronic Di Guglielmo's syndrome, with dwarfed binucleate megakaryocytes, and the patient died of acute myeloid leukemia.
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Introduction
Polycythemia vera was first described by Vaquez in 1892.1Osler, in 1903, collected 6 cases and proposed that this syndrome constituted a new clinical entity.2At the present time polycythemia vera is usually classified as one of the myeloproliferative syndromes,3,4because apparent transformations among polycythemia vera, acute leukemia, chronic myelocytic leukemia, myelofibrosis, and Digulielmo's syndrome have been observed; however, the cause of all these syndromes remains obscure. Polycythemia vera has been the subject of some excellent reviews.5-7 The purpose of this paper is to review the clinical course, complications, and prognosis of polycythemia vera as exemplified by a group of 50 patients, with particular reference to the problem of surgical risk in this disorder.Materials and Methods
The records of 50 patients with polycythemia vera seen at the University of Virginia Hospital between the years of 1940 and 1958 have been reviewed. Information about these patients has been obtainedMyelocytic leukemia
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Polycythemia rubra vera
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Polycythemia vera is an acquired myeloproliferative disorder that causes overproduction of all three hematopoietic cell lines, most prominently the red blood cells. The most common of the chronic myeloproliferative disorders, polycythemia vera occurs in about 0,5-2 per 100,000 persons. A slight overall male predominance has been observed, but females predominate within the reproductive age range. In this case report, We aimed to emphasize that cytogenetic analysis recently is important in the diagnosis of polycythemia vera.
Myeloproliferative neoplasm
Myeloproliferative Disorders
Janus kinase 2
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Objective Through the clinical analysis of 30 cases of polycythemia vera, we explore basic clinical characteristics of this disease, and reduce the misdiagnosis of polycythemia vera, so as to improve the treatment effect. Methods This study analyzed clinical data of polycythemia vera in September 2008 to October 2013. Results In the 30 cases of patients with polycythemia vera,misdiagnosis were 10 cases, accounting for 33.3%; in the patients with good treatment, 8 cases of remission, 18 patients improved significantly, effective treatment accounted for 86.7%. Conclusion The early symptoms of polycythemia vera were not obvious. The misdiagnosis rate was high; in order to reduce the misdiagnosis, the therapeutic effect must be improved.
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Here is the only current and comprehensive treatise on polycythemia vera and the myeloproliferative disorders. This book provides a complete review of the pathophysiologic manifestations of these diseases and the important advances in human physiology resulting from their study. It presents the most up-to-date clinical information on polycythemia vera and the myeloprolferative disorders, including treatment of thrombocythemia with anagrelide, secondary polycythemia, chronic myelocytic leukemia, therapeutic recommendations for polycythemia vera and much more. Over 220 illustrations add valuable visual detail to the text.
Anagrelide
Myelocytic leukemia
Myeloproliferative Disorders
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Four years have passed since publication of the latest update in clinical criteria for the diagnosis of polycythemia vera. During this time, the first molecular markers for polycythemia vera have been described. They include decreased expression of the thrombopoietin receptor, c-Mpl, and overexpression of the polycythemia rubra vera-1 messenger RNA. These biomarkers, which are not in themselves the causative changes leading to disease development but nonetheless appear intricately linked to the pathological process, may constitute a useful addition to our diagnostic repertoire. This review examines both the currently available clinical criteria and the possible role of biomarkers in the diagnosis of polycythemia vera. From this discussion, a refined set of diagnostic criteria for polycythemia vera is proposed.
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A group of 54 patients with the original diagnosis of polycythemia vera were subjected to cytogenetic examination. Six (17.6%) of the 34 cases examined in the period of the advanced phase of the polycythemia vera had a chromosomal change. Thirteen (65%) of the 20 patients undergoing the cytogenetic examination in the period when the polycythemia vera turned into another myeloproliferative disease showed chromosomal aberration. This suggests a relationship between the number of chromosomal changes and the transformation of the disease. No connection between the cytogenetic changes and myelosuppressive cures could be confirmed in our material. The chromosomal change 20q- considered to be the most frequent kind in the polycythemia vera was not discovered until in patients with the polycythemia vera transformed into a different myeloproliferative disease.
Polycythemia rubra vera
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