|
Frequency and factors associated with JAK2 V617F mutation in myeloproliferative neoplasms other than ABL-BCR disorders
|
E. Jafari    , Sh. Dabiri , Gh. Tavasolian , M. Fekri Soofiabadi , B. Kalantari Khandani |
|
|
| Keywords: Mutation, Primary myelofibrosis, Neoplasms |
|
|
Full-Text [PDF 489 kb]
(471 Downloads)
| Abstract (HTML) (1232 Views)
|
Type of Study: Research |
Subject:
Hematology
Published: 2021/07/1
|
|
|
|
|
|
|
Full-Text: (1485 Views) |
References:
- Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127: 2391. 42.
- Michiels JJ, Bernema Z, Van BD, De RH, Schroyens W. Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis(CIMF). Pathol Biol (Paris) 2017; 55(2): 92-104.
- Barbui T, Thiele J, Gisslinger H, Kvasnicka HM, Vannucchi AM, Guglielmelli P, et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood Cancer J 2018; 8(2): 15.
- Thapa B, Fazal S, Parsi M, et al. Myeloproliferative Neoplasms. [Updated 2020 Aug 13]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK531464/
- Pecquet C, Staerk J, Chaligne R, Goss V, Lee KA, Zhang X, et al. Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor. Blood 2010; 115(5): 1037-48.
- Lieu CH, Shen YJ, Lai WC, Tsai WH, Hsu HC. Prevalence of MPL W515L/K mutations in Taiwanese patients with Philadelphia-negative chronic myeloproliferative neoplasms. J Chin Med Assoc 2010; 73(10): 530-2.
- Lee J, Godfrey AL, Nangalia J. Genomic heterogeneity in myeloproliferative neoplasms and applications to clinical practice. Blood Rev 2020; 42: 100708.
- Asghari A, Shahriari Ahmadi A, Basi A, Vakili M, Razavi M, Arabi M, et al. The association between prevalence of JAK2V617F mutation and blood indicies in groups of patients with myeloproliferative neoplasms in Rasul Akram Hospital. Int J Hematol Oncol Stem Cell Res 2011; 5(4): 10-3.
- Karimzadeh P, Ghaffari SH, Chahardouli B, Zaghal A, Einollahi N, Mousavi SA, et al. Evaluation of JAK2V617F mutation prevalence in myeloproliferative neoplasm by AS-RT-PCR. Iran J Pediatr Hematol Oncol 2011; 1(2): 38-42.
- Zhuge J, Zhang W, Zhang W, Xu M, Hoffman R. Sensitive detection of MPLW515L/K mutations by amplification refractory mutation system (ARMS)-PCR. Clin Chim Acta 2010; 411(1-2): 122-3.
- Yeh YM, Chen YL, Cheng HY, Su WC, Chow NH, Chen TY, et al. High percentage of JAK2 exon 12mutation in Asian patients with polycythemia vera. Am J Clin Pathol 2010; 134(2): 266-70.
- Zhang SP, Li H, Lai RS. Detection of JAK2 V617 Fmutation increases the diagnosis of myeloproliferativeneoplasms. Oncol Lett 2015; 9(2): 735-8.
- Passamonti F, Elena C, Schnittger S, Skoda RC, GreenAR, Girodon F, et al. Molecular and clinical features ofthe myeloproliferative neoplasm associated with JAK2exon 12 mutations. Blood 2011; 117(10): 2813-6.
- Ghatsaslo A, Nad Ali F, Chahardouli B, Ghasemi A, Abbasian S, Ghafari K, et al. Prevalence of c-MPL and JAK2V617F Gene Mutations in Iranian Patients with Philadelphia Negative Myeloproliferative Disorders and their Relation to Laboratory and Clinical Findings. Clin Path 2014; 32: 301-5.
- Soliman EA, El-Ghlban S, El-Aziz SA, Abdelaleem A, Shamaa S, Abdel-Ghaffar H. JAK2, CALR, and MPL Mutations in Egyptian Patients With Classic Philadelphia-negative Myeloproliferative Neoplasms. Clin Lymphoma Myeloma Leuk 2020; 20(10): e645-51.
- 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): 101-8. [Article in Farsi]
- Cervantes F, Urbano-Ispizua A, Villamor N, Feliu E, Milla F, Lopez-Guillermo A .Ph-positive chronic myeloidleukemia mimicking essential thrombocythemia and terminating into megakaryoblastic blast crisis: report of twocases with molecular studies. Leukemia 1993; 7: 327-30.
- James C, Ugo V, Casadevall N, Constantinescu SN, Vainchenker W. A JAK2 mutation in myeloproliferativedisorders: pathogenesis and therapeutic and scientific prospects. Trends Mol Med 2005; 11: 546-54.
- Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al. Widespread occurrence of the JAK2 V617Fmutation in chronic myeloproliferative disorders. Blood 2005; 106: 2162–8.
- Barbara M, Cunha AF, Barbosa KB, Saad ST, Lornad-Metze I, Costa FF. JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia. Gen Mol Biol. 2007; 30: 336-8.
- McMahon C, Abu-Elmagd K, Bontempo FA, Kant JA, Swerdlow SH. JAK2 V617F mutation in patients with catastrophic intraabdominal thromboses. Am J Clin Pathol 2007; 127: 736-43.
- Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of JAK2V617F causes apolycythemia vera like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006; 107: 4274-81.
- Baxter EJ, Scott LM, Campbell P, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinaseJAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-61.
|
Sci J Iran Blood Transfus Organ 2021;18(2): 105-116
|
Frequency and factors associated with JAK2 V617F
mutation in myeloproliferative neoplasms other than
ABL-BCR disorders
Jafari E.1, Dabiri Sh.1, Tavasolian Gh.2, Fekri Soofiabadi M.1, Kalantari Khandani B.2
1Pathology and Stem Cells Research Center, Kerman University of Medical Sciences, Kerman, Iran
2School of Medicine, Kerman University of Medical Sciences, Kerman, Iran
Abstract
Background and Objectives
The association of JAK2 V617F mutation with myeloproliferative neoplasms was first reported in 2005. The present study was conducted to evaluate the frequency of JAK2 gene mutation in patients with myeloproliferative neoplasms in Kerman, Iran, from the years 2013 to 2018.
Materials and Methods
This descriptive cross-sectional study was performed among 276 patients with primary diagnosis of myeloproliferative neoplasms with subgroups PV, ET, PMF, and ABL-BCR negative referring to bone marrow laboratory of Bahonar Hospital during six years. Demographic, histopathologic, clinical, and JAK2 mutation data were collected. Data were analyzed by K2 test , Mann-Whitney U test and Kolmogorov–Smirnov test.
Results
Out of the total number of participants, 176 (64.9%) were male and 100 (35.1%) female with 101 (36.6%) patients having primary thrombocythemia, 81 (29.3%) primary myelofibrosis, 72 (26.1%) polycythemia vera, and 22 (8%) without diagnosis. Of all patients, JAK2 mutation was positive in 184 patients (66.6%). But the results showed that the frequency of positive mutations was 54.4% in primary thrombocytic patients, 59.2% in primary myelofibrosis patients, and 88.7% in polycythemia patients. This difference was statistically significant. ( p = 0.016)
Conclusions
Considering the comparability of JAK2 V617F mutation rate in Iranian patients with myeloproliferative neoplasms and previous reports, in order to standardize the diagnosis and control of treatment and prognosis, it seems neccessary to evaluate this mutation along with other histopathologic evaluations.
Key words: Mutation, Primary myelofibrosis, Neoplasms
Received: 19 Sep 2020
Accepted: 1 May 2021
Correspondence: Jafari E., Pathologist and Surgeon. Associate Professor of Pathology and Stem Cells Research Center, Kerman University of Medical Sciences.
Postal code: 5636836335, Kerman, Iran. Tel: (+9834) 32235011; Fax: (+9834) 32227987
E-mail: ejfarda@yahoo.com |
|
| Send email to the article author |
|
|
|
| Add your comments about this article |
|
|
|
|
Jafari E, Dabiri S, Tavasolian G, Fekri Soofiabadi M, Kalantari Khandani B. Frequency and factors associated with JAK2 V617F mutation in myeloproliferative neoplasms other than ABL-BCR disorders. Sci J Iran Blood Transfus Organ 2021; 18 (2) :105-116 URL: http://bloodjournal.ir/article-1-1372-en.html
|
