SciELO - Scientific Electronic Library Online

 
vol.42 número3A retrospective cohort study to screen linezolid-induced thrombocytopenia in adult patients hospitalized in the Midwestern Region of BrazilDiagnosis of acute graft-versus-host disease in the gastrointestinal tract of patients undergoing allogeneic hematopoietic stem cell transplantation. A descriptive and critical study of diagnostic tests índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

Links relacionados

Compartilhar


Hematology, Transfusion and Cell Therapy

versão impressa ISSN 2531-1379versão On-line ISSN 2531-1387

Resumo

PORTO-SOARES, Moysés Antonio et al. Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms. Hematol., Transfus. Cell Ther. [online]. 2020, vol.42, n.3, pp.238-244.  Epub 18-Set-2020. ISSN 2531-1387.  https://doi.org/10.1016/j.htct.2019.07.008.

Background:

The classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). In developing countries, there are few reports that truly reveal the clinical setting of these patients. Therefore, we aimed to characterize a single center MPN population with a special focus on the correct diagnosis based on the recent review of the WHO criteria for the diagnosis of myeloid neoplasms.

Methods:

This retrospective study analyzed data from medical records of patients with classical BCR-ABL1-negative MPNs diagnosed from January 1997 to October 2017 and followed at the University Hospital of Ribeirão Preto Medical School.

Results:

A total of 162 patients were assessed, 61 with PV, 50 with ET, and 51 with PMF. The mutational status analysis revealed that 113 (69.3%) harbored the JAK2V617F mutation, 23 (14.1%), the CALR mutation, and 12 (7.4%) had a triple-negative status. None of the patients were found to have mutations on the thrombopoietin receptor gene (MPL), including some ET and PMF patients who were not tested. Among the PV patients, 57 (93.5%) were positive for the JAK2V617F mutation, one (1.6%) presented an in-frame deletion JAK2 exon 12 mutation and one (1.6%) presented a missense JAK2 exon 9 mutation, not previously described. The overall survival was lower in the triple-negative patients with PMF, when compared to the JAK2V617F or CALR-mutated (p= 0.002).

Conclusion:

The frequency of somatic mutations and survival in our cohort, stratified according to the respective disease, was consistent with the literature data, despite some limitations. Further prospective epidemiological studies of MPN cohorts are encouraged in developing countries.

Palavras-chave : Myeloproliferative disorders; Primary myelofibrosis; Thrombocythemia, essential; Polycythemia vera; Developing country.

        · texto em Inglês     · Inglês ( pdf )