The prevalence of CALR mutations in a cohort of patients with myeloproliferative neoplasms

dc.creatorGrinsztejn, Eduarda
dc.creatorPercy, M. J.
dc.creatorMcClenaghan, D.
dc.creatorQuintana, M.
dc.creatorCuthbert, R. J. G.
dc.creatorMcMullin, M. F.
dc.date2018-10-10T17:49:44Z
dc.date2018-10-10T17:49:44Z
dc.date2016
dc.date.accessioned2023-09-26T20:10:39Z
dc.date.available2023-09-26T20:10:39Z
dc.identifierGRINSZTEJN, E. et al. The prevalence of CALR mutations in a cohort of patients with myeloproliferative neoplasms. International Journal of Laboratory Hematology, v. 38, n. 1, p. 102-106, 2016.
dc.identifier1751-5521
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/29499
dc.identifier10.1111/ijlh.12447
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8850521
dc.descriptionIntroduction: To investigate the prevalence of calreticulin (CALR) mutations in JAK2- and MPL-non-mutated patients with suspected myeloproliferative neoplasm (MPN) from a large MPN clinic and confirm a diagnosis of MPN. Methods: JAK2/MPL-non-mutated patients from the Belfast City Hospital (BCH) with either of the MPNs – ET or MF – and diagnosed between 1988 and 2014 were selected for CALR screen. All cases were validated according to the WHO 2008 classification for MPNs. Statistical analysis was performed with Minitab 16 Statistical Software package. Exon 9 of CALR was amplified by PCR using genomic DNA, and mutations were detected by fragment analysis. Results: Of the 62 JAK2/MPL-non-mutated MPN patients screened, 57 had ET and 5 had MF; 34 patients (53.1%) carried CALR mutations. Three of 5 MF patients were CALR positive. Thirty-one ET patients (54.3%) harboured CALR mutation, whereas 26 (45.7%) were classified as ‘triple negatives’. Conclusion: Detection of CALR mutations in a cohort of JAK2/MPLnon-mutated patients with suspected MPN confirmed the diagnosis of MPN in around 53% of cases. This is lower than initially reported, but similar to subsequent studies. However, a sizable cohort of patients remains lacking a specific molecular marker.
dc.description2028-08-30
dc.formatapplication/pdf
dc.languageeng
dc.rightsrestricted access
dc.subjectMyeloproliferative
dc.subjectCalreticulin
dc.subjectMutations
dc.subjectPrevalence
dc.subjectPrognosis
dc.titleThe prevalence of CALR mutations in a cohort of patients with myeloproliferative neoplasms
dc.typeArticle


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