CALR mutation profile in Irish patients with myeloproliferative neoplasms

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dc.contributor.authorHaslam, Karl
dc.contributor.authorConneally, Eibhlin
dc.contributor.authorFlynn, Catherine M.
dc.contributor.authorCahill, Mary R.
dc.contributor.authorGilligan, Oonagh
dc.contributor.authorO'Shea, Derville
dc.contributor.authorLangabeer, Stephen E.
dc.date.accessioned2016-12-16T14:53:00Z
dc.date.available2016-12-16T14:53:00Z
dc.date.issued2016-06-23
dc.date.updated2016-12-16T14:46:56Z
dc.description.abstractInsertion 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.description.statusPeer revieweden
dc.description.versionPublished Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationHaslam, 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.2016.05.002en
dc.identifier.doi10.1016/j.hemonc.2016.05.002
dc.identifier.endpage115en
dc.identifier.issn1658-3876
dc.identifier.issued3en
dc.identifier.journaltitleHematology/Oncology and Stem Cell Therapyen
dc.identifier.startpage112en
dc.identifier.urihttps://hdl.handle.net/10468/3391
dc.identifier.volume9en
dc.language.isoenen
dc.publisherElsevieren
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.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/en
dc.subjectCALRen
dc.subjectEssential thrombocythemiaen
dc.subjectJAK2en
dc.subjectMyeloproliferative neoplasmen
dc.subjectPrimary myelofibrosisen
dc.titleCALR mutation profile in Irish patients with myeloproliferative neoplasmsen
dc.typeArticle (peer-reviewed)en
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