JANUS KINASE V617F MUTATION DETECTION IN PATIENTS WITH MYELOFIBROSIS
Nikolova D1,2,*, Yordanov A2, Damyanova V1,2, Radinov A2, Toncheva D1
*Corresponding Author: Dragomira Nikolova, Ph.D., Department of Medical Genetics, Medical Faculty, Medical University Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria. Tel: +359888-103-456, E-mail: dmb@abv.bg
page: 1

REFERENCES

1. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th ed. Lyon, France: International Agency for Research on Cancer, 2008. 2. Rumi E, Pietra D, Pascutto C, Guglielmelli P, Martinez- Trillos A, Casetti I, et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood. 2014; 124(7): 1062-1069. 3. Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013; 369(25): 2379-2390. 4. Cazzola M, Kralovics R. From Janus kinase 2 to calreticulin: The clinically relevant genomic landscape of myeloproliferative neoplasms. Blood. 2014; 123(24): 3714-3719. 5. Ha JS, Kim YK. Calreticulin exon 9 mutations in myeloproliferative neoplasms. Ann Lab Med. 2015; 35(1): 22-27. 6. Lavi N. Calreticulin mutations in myeloproliferative neoplasms. Rambam Maimonides Med J. 2014; 5(4): e0035. 7. Montoro J, Robledo C, Zamora L, Valcarcel D, Ramos F. Calreticulin mutations are exceedingly rare in patients with myelodysplastic syndromes with myelofibrosis. Ann Hematol. 2017; 96(2): 317-318. 8. Ebid GT, Ghareeb M, Salaheldin O, Kamel MM. Prevalence of the frequency of JAK2 (V617F) mutation in different myeloproliferative disorders in Egyptian patients. Int J Clin Exp Pathol. 2015; 8(9): 11555-11559. 9. Passamonti F, Maffioli M, Caramazza D, Cazzola M. Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies. Oncotarget. 2011; 2(6): 485-490. 10. de Freitas RM, da Costa Maranduba CM. Myeloproliferative neoplasms and the JAK/STAT signaling pathway: An overview. Rev Bras Hematol Hemoter. 2015; 37(5): 348-353. 11. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: A prospective study. Lancet. 2005; 366(9501): 1945-1953. 12. Passamonti F, Rumi E, Pungolino E, Malabarba L, Bertazzoni P, Valentini M, et al. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med. 2004; 117(10): 755-761. 13. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005; 365(9464): 1054-1061. 14. Lichtman M, Beutler E. Idiopathic myelofibrosis (agnogenic myeloid metaplasia). In: Beutler E, Editor. Williamís Hematology. New York, NY, USA: McGraw-Hill. 2001: 1125-1136. 15. Mavroudis D, Barrett B. Myelofibrosis (agnogenic myeloid metaplasia). In: Young N, Editor. Bone Marrow Failure Syndrome. Philadelphia, PA, USA: W.B. Saunders Company. 2000: 122-134. 16. Peterson P. Myelofibrosis. In: Kjeldsberg C, Editor. Myelofibrosis. Practical Diagnosis of Hematologic Disorders. Chicago, IL, USA: American Society for Clinical Pathology Press. 2010: 477-479. 17. Rego de Paula M Jr, Nonino A, Minuncio Nascimento J, Bonadio RS, Pic-Taylor A, de Oliveira SF, et al. High frequency of copy-neutral loss of heterozygosity in patients with myelofibrosis. Cytogenet Genome Res. 2018; 154(2):62-70. 18. Cottin L, Riou J, Boyer F, Bouvier A, Zannetti A, Blouet A, et al. WT1 gene is overexpressed in myeloproliferative neoplasms, especially in myelofibrosis. Blood Cells Mol Dis. 2019; 75: 35-40. 19. OíSullivan J, Mead AJ. Heterogeneity in myeloproliferative neoplasms: Causes and consequences. Adv Biol Regul. 2019; 71: 55-68. 20. Takenaka K, Shimoda K, Akashi K. Recent advances in the diagnosis and management of primary myelofibrosis. Korean J Intern Med. 2018; 33(4): 679-690.



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