|
Evaluation of prevalence of JAK 2 exon 12 gene mutations among Iranian patients with Polycythemia Vera
|
Zahra Torab   , Behzad Poopak , Ali Akbar Movassagh Pour , M.R. Younesi , A.H. Emami , Fazel Elahi |
|
|
| Keywords: Key words: Polycythemia Vera, Neoplasms, Exons |
|
|
Full-Text [PDF 1898 kb]
(1561 Downloads)
| Abstract (HTML) (4528 Views)
|
Type of Study: Research |
Subject:
Hematology
Published: 2017/06/18
|
|
|
|
|
|
|
Full-Text: (4106 Views) |
References:
- Barbui T, Barosi G, Birgegard G, Cervantes F, Finazzi G, Griesshammer M, et al. Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet. J Clin Oncol 2011; 29(6): 761-70.
- Sabattini E, Bacci F, Sagramoso C, Pileri S. WHO classification of tumours of haematopoietic and lymphoid tissues in 2008: an overview. Pathologica 2010; 102(3): 83-7.
- Swerdllow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, et al. WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed. France: IARC Press; 2008. p . 439-50.
- Gotlib JR, Nolan GP, Zehnder JL, Oh ST. Mutations in the LNK gene in patients with myeloproliferative neoplasms and other hematolymphoid malignancies. United States patent US (Application No. EP2524058 A1) 2012.
- McMullin MF, Cario H. LNK mutations and myeloproliferative disorders. Am J Hematol 2016; 91(2): 248-51.
- Scott LM, Linda M. The Molecular Genetics of Polycythemia Vera. In: Advances in Genetic Research. 16th ed. New York, NY, United States: Nova Science Publishers; 2016. p. 101-22.
- Tefferi A. Polycythemia vera and essential thrombocythemia: 2013 update on diagnosis, risk-stratification, and management. Am J Hematol 2013; 88(6): 507-16.
- Scott LM. The JAK2 exon 12 mutations: a comprehensive review. Am J Hematol 2011; 86(8): 668-76.
- Schnittger S, Bacher U, Haferlach C, Geer T, Müller P, Mittermüller J, et al. Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera. Haematologica 2009; 94(3): 414-8.
- Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007; 356(5): 459-68.
- Poopak B, Mirmongereh H, Pourfathollah AA, Sharifian RA, Rezvani H, Elahi F, et al. Evaluation of JAK2 V617F mutation in Iranian patients with non-CML myeloproliferative neoplasms. Sci J Iran Blood Transfus Organ 2009; 5(4): 237-45. [Article in Farsi]
- Ferdowsi Sh, Atarodi K, Amirizadeh N, Toogeh Gh, Azarkeivan A, Shirkoohi R, et al. Expression analysis of miR-125a-3p and miR-125a-5p in patients with
myeloproliferative neoplasm. Sci J Iran Blood Transfus Organ 2016; 13(3): 215-23. [Article in Farsi]
- Tefferi A, Thiele J, Vardiman JW. The 2008 World Health Organization classification system for myeloproliferative neoplasms: order out of chaos. Cancer 2009; 115(17): 3842-7.
- Pardanani A, Lasho T, Finke C, Hanson C, Tefferi A. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 2007; 21(9): 1960-3.
- Yeh Y-M, Chen Y-L, Cheng H-Y, Su W-C, Chow N-H, Chen T-Y, et al. High percentage of JAK2 exon 12 mutation in Asian patients with polycythemia vera. Am J Clin Pathol 2010; 134(2): 266-70.
- Zhang SP, Li H, Lai RS. Detection of JAK2 V617F mutation increases the diagnosis of myeloproliferative neoplasms. Oncol Lett 2015; 9(2): 735-8.
- Williams DM, Kim AH, Rogers O, Spivak JL, Moliterno AR. Phenotypic variations and new mutations in JAK2 V617F–negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis. Exp Hematol 2007; 35(11): 1641-6.
- Passamonti F, Elena C, Schnittger S, Skoda RC, Green AR, Girodon F, et al. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations. Blood 2011; 117(10): 2813-6.
- Bernardi M, Ruggeri M, Albiero E, Madeo D, Rodeghiero F. Isolated erythrocytosis in V617F negative patients with JAK2 exon 12 mutations: report of a new mutation. Am J Hematol 2009; 84(4): 258-60.
- Theocharides A, Passweg JR, Medinger M, Looser R, Li S, Hao-Shen H, et al. The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders. Haematologica 2008; 93(12): 1890-3.
- Pietra D, Li S, Brisci A, Passamonti F, Rumi E, Theocharides A, et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 2008; 111(3): 1686-9.
- Kouroupi E, Zoi K, Parquet N, Zoi C, Kiladjian JJ, Grigoraki V, et al. Mutations in exon 12 of JAK2 are mainly found in JAK2 V617F-negative polycythaemia vera patients. Br J Haemato 2008; 142(4): 676-9.
- Laughlin TS, Moliterno AR, Stein BL, Rothberg PG. Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing. J Mol Diag 2010; 12(3): 278-82.
|
Sci J Iran Blood Transfus Organ 2017; 14(2): 101-108
|
Evaluation of prevalence of JAK2 exon 12 gene mutations among Iranian patients with Polycythemia Vera
Torab Z.1, Poopak B.2, Movassaghpour Akbari A.A.3, Younesi M.R.4, Emami A.H.5, Elahi F.5
1Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
2Islamic Azad University, Tehran Medical Sciences Branch, Tehran, Iran
3Hematology Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
4Varamin Campus, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5Tehran University of Medical Sciences, Tehran, Iran
Abstract
Background and Objectives
Polycythemia Vera (PV) is one of the negative BCR-ABL1 myeloproliferative neoplasms arising from hematopoietic progenitors. About 3-4% of PV patients have some mutations in the exon 12 of JAK2 gene. Considering the importance of these mutations in diagnosis of patients with PV, the present study was conducted.
Materials and Methods
In this descriptive analytical study, JAK2 exon 12 mutations were evaluated in 58 patients with diagnosis of PV in Payvand Laboratory and all of them were negative for V617F mutation. In addition, we had 60 detailed patient files who had V617F mutation. After quality control of extracted genomic DNA, the exon 12 were amplified by PCR. The screening for mutations was performed by direct DNA sequencing. The data were analyzed by SPSS 13 & c 2 test.
Results
In this study 58 V617F-negative PV patients were studied. 45 (77.6%) cases were male and 13 (22.4%) were female. The mean age of patients was 46.8 ± 4.2. After needed analysis Mutation (E543-D544del) was seen in a 72 years old woman .
Conclusions
There is low frequency of exon 12 mutation in Iranian population which can be as a result of low number of patients or low frequency in Iranian population. So study on larger population should be informative.
Key words: Polycythemia Vera, Neoplasms, Exons
Received: 21 Nov 2016
Accepted:16 Jan 2017
Correspondence: Poopak B., PhD of Hematology and Blood Banking. Assistant Professor of Islamic Azad University, Tehran Medical Sciences Branch.
P.O.Box: 19395-1495, Tehran, Iran. Tel: (+9821) 22264144; Fax: (+9821) 22264144
E-mail:
bpoopak@gmail.com
|
|
| Send email to the article author |
|
|
|
| Add your comments about this article |
|
|
|
|
Torab Z, Poopak B, Movassagh Pour A A, Younesi M, Emami A, Elahi F. Evaluation of prevalence of JAK 2 exon 12 gene mutations among Iranian patients with Polycythemia Vera . Sci J Iran Blood Transfus Organ 2017; 14 (2) :101-108 URL: http://bloodjournal.ir/article-1-1091-en.html
|
.jpg)
.png)
