Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations
© 2018 Informa UK Limited, trading as Taylor & Francis Group Objectives: The primary objective was to determine the prevalence of calreticulin (CALR) mutation in patients with non-JAK2V617F mutated essential thrombocythemia (ET). The secondary objectives were to evaluate the accuracy of CALR m...
Saved in:
Main Authors: | , , , , , , , , , , , |
---|---|
Format: | Journal |
Published: |
2018
|
Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85043317270&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/48476 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Chiang Mai University |
id |
th-cmuir.6653943832-48476 |
---|---|
record_format |
dspace |
spelling |
th-cmuir.6653943832-484762018-04-25T10:12:51Z Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations Ekarat Rattarittamrong Adisak Tantiworawit Noppamas Kumpunya Ornkamon Wongtagan Ratchanoo Tongphung Arunee Phusua Chatree Chai-Adisaksopha Sasinee Hantrakool Thanawat Rattanathammethee Lalita Norasetthada Pimlak Charoenkwan Suree Lekawanvijit © 2018 Informa UK Limited, trading as Taylor & Francis Group Objectives: The primary objective was to determine the prevalence of calreticulin (CALR) mutation in patients with non-JAK2V617F mutated essential thrombocythemia (ET). The secondary objectives were to evaluate the accuracy of CALR mutation analysis by high-resolution melting (HRM) analysis and real-time polymerase chain reaction (PCR) compared with DNA sequencing and to compare clinical characteristics of CALR mutated and JAK2V617F mutated ET. Methods: This was a prospective cohort study involving ET patients registered at Chiang Mai University in the period September 2015–September 2017 who were aged more than 2 years, and did not harbor JAK2V617F mutation. The presence of CALR mutation was established by DNA sequencing, HRM, and real-time PCR for type 1 and type 2 mutation. Clinical data were compared with that from ET patients with mutated JAK2V617F. Results: Twenty-eight patients were enrolled onto the study. CALR mutations were found in 10 patients (35.7%). Three patients had type 1 mutation, 5 patients had type 2 mutation, 1 patient had type 18 mutation, and 1 patients had novel mutations (c.1093 C–G, c.1098_1131 del, c.1135 G–A). HRM could differentiate between the types of mutation in complete agreement with DNA sequencing. Patients with a CALR mutation showed a significantly greater male predominance and had a higher platelet count when compared with 42 JAK2V617F patients. Discussion and Conclusions: The prevalence of CALR mutation in JAK2V617F-negative ET in this study is 35.7%. HRM is an effective method of detecting CALR mutation and is a more advantageous method of screening for CALR mutation. 2018-04-25T10:12:51Z 2018-04-25T10:12:51Z 2018-03-10 Journal 16078454 10245332 2-s2.0-85043317270 10.1080/10245332.2018.1448699 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85043317270&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/48476 |
institution |
Chiang Mai University |
building |
Chiang Mai University Library |
country |
Thailand |
collection |
CMU Intellectual Repository |
description |
© 2018 Informa UK Limited, trading as Taylor & Francis Group Objectives: The primary objective was to determine the prevalence of calreticulin (CALR) mutation in patients with non-JAK2V617F mutated essential thrombocythemia (ET). The secondary objectives were to evaluate the accuracy of CALR mutation analysis by high-resolution melting (HRM) analysis and real-time polymerase chain reaction (PCR) compared with DNA sequencing and to compare clinical characteristics of CALR mutated and JAK2V617F mutated ET. Methods: This was a prospective cohort study involving ET patients registered at Chiang Mai University in the period September 2015–September 2017 who were aged more than 2 years, and did not harbor JAK2V617F mutation. The presence of CALR mutation was established by DNA sequencing, HRM, and real-time PCR for type 1 and type 2 mutation. Clinical data were compared with that from ET patients with mutated JAK2V617F. Results: Twenty-eight patients were enrolled onto the study. CALR mutations were found in 10 patients (35.7%). Three patients had type 1 mutation, 5 patients had type 2 mutation, 1 patient had type 18 mutation, and 1 patients had novel mutations (c.1093 C–G, c.1098_1131 del, c.1135 G–A). HRM could differentiate between the types of mutation in complete agreement with DNA sequencing. Patients with a CALR mutation showed a significantly greater male predominance and had a higher platelet count when compared with 42 JAK2V617F patients. Discussion and Conclusions: The prevalence of CALR mutation in JAK2V617F-negative ET in this study is 35.7%. HRM is an effective method of detecting CALR mutation and is a more advantageous method of screening for CALR mutation. |
format |
Journal |
author |
Ekarat Rattarittamrong Adisak Tantiworawit Noppamas Kumpunya Ornkamon Wongtagan Ratchanoo Tongphung Arunee Phusua Chatree Chai-Adisaksopha Sasinee Hantrakool Thanawat Rattanathammethee Lalita Norasetthada Pimlak Charoenkwan Suree Lekawanvijit |
spellingShingle |
Ekarat Rattarittamrong Adisak Tantiworawit Noppamas Kumpunya Ornkamon Wongtagan Ratchanoo Tongphung Arunee Phusua Chatree Chai-Adisaksopha Sasinee Hantrakool Thanawat Rattanathammethee Lalita Norasetthada Pimlak Charoenkwan Suree Lekawanvijit Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations |
author_facet |
Ekarat Rattarittamrong Adisak Tantiworawit Noppamas Kumpunya Ornkamon Wongtagan Ratchanoo Tongphung Arunee Phusua Chatree Chai-Adisaksopha Sasinee Hantrakool Thanawat Rattanathammethee Lalita Norasetthada Pimlak Charoenkwan Suree Lekawanvijit |
author_sort |
Ekarat Rattarittamrong |
title |
Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations |
title_short |
Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations |
title_full |
Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations |
title_fullStr |
Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations |
title_full_unstemmed |
Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations |
title_sort |
calreticulin mutation analysis in non-mutated janus kinase 2 essential thrombocythemia patients in chiang mai university: analysis of three methods and clinical correlations |
publishDate |
2018 |
url |
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85043317270&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/48476 |
_version_ |
1681423255972347904 |