CALR mutation profile in Irish patients with myeloproliferative neoplasms

Show simple item record

dc.contributor.author Haslam, Karl
dc.contributor.author Conneally, Eibhlin
dc.contributor.author Flynn, Catherine M.
dc.contributor.author Cahill, Mary R.
dc.contributor.author Gilligan, Oonagh
dc.contributor.author O'Shea, Derville
dc.contributor.author Langabeer, Stephen E.
dc.date.accessioned 2016-12-16T14:53:00Z
dc.date.available 2016-12-16T14:53:00Z
dc.date.issued 2016-06-23
dc.identifier.citation Haslam, K., Conneally, E., Flynn, C. M., Cahill, M. R., Gilligan, O., O’Shea, D. and Langabeer, S. E. (2016) 'CALR mutation profile in Irish patients with myeloproliferative neoplasms', Hematology/Oncology and Stem Cell Therapy, 9(3), pp. 112-115. doi:10.1016/j.hemonc.2016.05.002 en
dc.identifier.volume 9 en
dc.identifier.issued 3 en
dc.identifier.startpage 112 en
dc.identifier.endpage 115 en
dc.identifier.issn 1658-3876
dc.identifier.uri http://hdl.handle.net/10468/3391
dc.identifier.doi 10.1016/j.hemonc.2016.05.002
dc.description.abstract Insertion and/or deletion mutations of the CALR gene have recently been demonstrated to be the second most common driver mutations in the myeloproliferative neoplasms (MPNs) of essential thrombocythemia (ET) and primary myelofibrosis (PMF). Given the diagnostic and emerging prognostic significance of these mutations, in addition to the geographical heterogeneity reported, the incidence of CALR mutations was determined in an Irish cohort of patients with MPNs with a view to incorporate this analysis into a prospective screening program. A series of 202 patients with known or suspected ET and PMF were screened for the presence of CALR mutations. CALR mutations were detected in 58 patients. Type 1 and Type 1-like deletion mutations were the most common (n = 40) followed by Type 2 and Type 2-like insertion mutations (n = 17). The CALR mutation profile in Irish ET and PMF patients appears similar to that in other European populations. Establishment of this mutational profile allows the introduction of a rational, molecular diagnostic algorithm in cases of suspected ET and PMF that will improve clinical management. en
dc.format.mimetype application/pdf en
dc.language.iso en en
dc.publisher Elsevier en
dc.rights © 2016 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). en
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/ en
dc.subject CALR en
dc.subject Essential thrombocythemia en
dc.subject JAK2 en
dc.subject Myeloproliferative neoplasm en
dc.subject Primary myelofibrosis en
dc.title CALR mutation profile in Irish patients with myeloproliferative neoplasms en
dc.type Article (peer-reviewed) en
dc.internal.authorcontactother Mary Cahill, Pathology, University College Cork, Cork, Ireland. +353-21-490-3000 Email: maryr.cahill@hse.ie en
dc.internal.authorcontactother Mary R. Cahill, Pathology, University College Cork, Cork, Ireland. +353-21-490-3000 Email: maryr.cahill@hse.ie en
dc.internal.availability Full text available en
dc.date.updated 2016-12-16T14:46:56Z
dc.description.version Published Version en
dc.internal.rssid 375910066
dc.description.status Peer reviewed en
dc.identifier.journaltitle Hematology/Oncology and Stem Cell Therapy en
dc.internal.copyrightchecked No !!CORA!! en
dc.internal.licenseacceptance Yes en
dc.internal.IRISemailaddress maryr.cahill@hse.ie en


Files in this item

This item appears in the following Collection(s)

Show simple item record

© 2016 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). Except where otherwise noted, this item's license is described as © 2016 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
This website uses cookies. By using this website, you consent to the use of cookies in accordance with the UCC Privacy and Cookies Statement. For more information about cookies and how you can disable them, visit our Privacy and Cookies statement