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The prevalence of CALR mutations in a cohort of patients with myeloproliferative neoplasms
Author(s) -
Grinsztejn E.,
Percy M. J.,
McClenaghan D.,
Quintana M.,
Cuthbert R. J. G.,
McMullin M. F.
Publication year - 2016
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.12447
Subject(s) - myeloproliferative neoplasm , medicine , calreticulin , essential thrombocythemia , cohort , gastroenterology , oncology , myelofibrosis , polycythemia vera , genetics , biology , bone marrow , endoplasmic reticulum
Summary Introduction To investigate the prevalence of calreticulin ( CALR ) mutations in JAK 2‐ and MPL ‐non‐mutated patients with suspected myeloproliferative neoplasm ( MPN ) from a large MPN clinic and confirm a diagnosis of MPN . Methods JAK 2/ MPL ‐non‐mutated patients from the Belfast City Hospital ( BCH ) with either of the MPN s – 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 MPN s. 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 JAK 2/ 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 JAK 2/ MPL ‐non‐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.