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Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms
Soares, Moysés Antonio Porto; Oliveira, Rafael Daltro de; Cortopassi, Gabriel Macedo; Machado Neto, João Agostinho; Palma, Leonardo Carvalho; Pontes, Lorena Lobo de Figueiredo.
  • Soares, Moysés Antonio Porto; Universidade de São Paulo - USP. Centro de Terapia Celular. Faculdade de Medicina. Ribeirão Preto. BR
  • Oliveira, Rafael Daltro de; Universidade de São Paulo - USP. Centro de Terapia Celular. Faculdade de Medicina. Ribeirão Preto. BR
  • Cortopassi, Gabriel Macedo; Universidade de São Paulo - USP. Centro de Terapia Celular. Faculdade de Medicina. Ribeirão Preto. BR
  • Machado Neto, João Agostinho; Universidade de São Paulo - USP. Centro de Terapia Celular. Faculdade de Medicina. Ribeirão Preto. BR
  • Palma, Leonardo Carvalho; Universidade de São Paulo - USP. Centro de Terapia Celular. Faculdade de Medicina. Ribeirão Preto. BR
  • Pontes, Lorena Lobo de Figueiredo; Universidade de São Paulo. Centro de Terapia Celular. Faculdade de Medicina. Ribeirão Preto. BR
Hematol., Transfus. Cell Ther. (Impr.) ; 42(3): 238-244, July-Sept. 2020. tab, graf
Article in English | LILACS | ID: biblio-1134042
ABSTRACT
ABSTRACT

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.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Polycythemia Vera / Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Primary Myelofibrosis / Thrombocythemia, Essential / Myeloproliferative Disorders Type of study: Observational study Limits: Adult / Aged / Aged80 / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Hematol., Transfus. Cell Ther. (Impr.) Journal subject: Hematologia / TransfusÆo de Sangue Year: 2020 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade de São Paulo - USP/BR / Universidade de São Paulo/BR

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Full text: Available Index: LILACS (Americas) Main subject: Polycythemia Vera / Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Primary Myelofibrosis / Thrombocythemia, Essential / Myeloproliferative Disorders Type of study: Observational study Limits: Adult / Aged / Aged80 / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Hematol., Transfus. Cell Ther. (Impr.) Journal subject: Hematologia / TransfusÆo de Sangue Year: 2020 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade de São Paulo - USP/BR / Universidade de São Paulo/BR