
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: 57
|
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.
William’s 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. O’Sullivan 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.
|
|
|
|



 |
Number 27 VOL. 27 (2), 2024 |
Number 27 VOL. 27 (1), 2024 |
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|