Frequency of Myeloproliferative Leukaemia Virus (MPL) W515L Mutation among Sudanese Patients with Polycythemia Vera
Abstract
Background:Myeloproliferative leukemia virus (MPL) plays an important role in the development of megakaryocytes and platelets as well as the self-renewal of haematopoietic stem cells. Recently, numerous MPL mutations have been identified in MPN and reported by researchers. These mutations alter the normal regulatory mechanisms and lead to autonomous activation or signaling deficiencies. The present study aimed to detect the frequency of MPL (W515L)mutation gene among Sudanese patients with polycythemia vera (PV).It may lead to new diagnostic criteria or therapy design.
Materials and methods: This was a descriptive cross sectional study in which a total of 37 patients with polycythemia vera were enrolled in this study, DNA was extracted from patients’ blood samples by using salting out method, and analyzed for the detection of MPL(W515L) mutation by using allele specific polymerase chain reaction (ASPCR).Laboratory results and patient’s data were analyzed using statistical packing for social sciences program(SPSS).
Results:A total of 37 Sudanese patients attended military hospitals that have been diagnosed with polycythemia vera were enrolled in this study. 36(97.3%) of them were males, one (2.7%) females; age ranged between 23-74 years
The present study showed that 10(27.0%) patients out of 37 were positive for MPL (W515L) mutation, and all of them were males.
Conclusion:This study concluded that the frequency of MPL W515L mutation in Sudanese patients with polycythemia vera is 27%.
References
2. Spivak JL. Article addressBlood. 2002;100:4272–4290. [PubMed]
3. Vaquez H. Sur uneFormeSpeciale De CyanoseS'Accompagnant D' Hyperglobulie Excessive EtPeristante. C R SocBiol (Paris). 1892;44:384-388.
4. Berglund S, Zettervall O. Incidence of polycythemia vera in a defined population. Eur J Haematol. 1992;48:20-26.
5. Anía B, et al(1994). "Trends in the incidence of polycythemia vera among Olmsted County, Minnesota residents, 1935-1989". Am J Hematol 47 (2): 89–93.
6. Finazzi G, et al. Acute leukemia in polycythemia Vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood 2005; 105: 2664–2670.
7. Tefferi, A, Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1 Leukemia. 2010,24,1128.
8. Xin He1,etal;Different mutations of the human c-mpl gene indicate distinct haematopoietic diseases. Journal of Hematology & Oncology 2013, 6:11 doi:10.1186/1756-8722-6-11.
9. Pardanani A, Lasho TL, Finke CM, Tefferi A: Infrequent occurrence of MPL exon 10 mutations in polycythemia vera and post-polycythemia Vera myelofibrosis. Am J Hematol 2011, 86:701-702
10. Pardanani AD, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006;108:3472–3476. [PubMed
11. Wei Xuet al .MPL W515L mutation in Chinese patients with myeloproliferativedisorder . Leukemia & Lymphoma 2008.49:955-958.