Use este identificador para citar ou linkar para este item:
https://www.arca.fiocruz.br/handle/icict/29499
Tipo de documento
ArtigoDireito Autoral
Acesso restrito
Data de embargo
2028-08-30
Coleções
- INI - Artigos de Periódicos [3400]
Metadata
Mostrar registro completo
THE PREVALENCE OF CALR MUTATIONS IN A COHORT OF PATIENTS WITH MYELOPROLIFERATIVE NEOPLASMS
Autor(es)
Afiliação
Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Laboratório de Pesquisa Clínica em DST/AIDS. Rio de Janeiro, RJ, Brasil./ Universidade Federal do Io de Janeiro. Faculdade de Medicina. Rio de Janeiro, Brasil./ Queens University of Belfast. Belfast, UK.
Belfast City Hospital. Haematology. Belfast, UK.
Belfast City Hospital. Haematology. Belfast, UK.
Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil.
Belfast City Hospital. Haematology. Belfast, UK.
Queens University of Belfast. Belfast, UK./ Belfast City Hospital. Haematology. Belfast, UK.
Belfast City Hospital. Haematology. Belfast, UK.
Belfast City Hospital. Haematology. Belfast, UK.
Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil.
Belfast City Hospital. Haematology. Belfast, UK.
Queens University of Belfast. Belfast, UK./ Belfast City Hospital. Haematology. Belfast, UK.
Resumo em Inglês
Introduction: 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.
Compartilhar