Desregulação da apoptose em neoplasias mieloproliferativas crônicas

Tognon, Raquel; Nunes, Natália de Souza; Castro, Fabíola Attié de

doi:10.1590/s1679-45082013000400025

Cited by 15 publications

(1 citation statement)

References 27 publications

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“…FAS (CD95) is a molecule expressed on the cell surface, and it initiates the death signal after binding to its ligand (FASL) [ 10 ]. The FAS/FASL pathway is a critical system for hematopoietic cell survival and apoptosis [ 11 – 13 ]. Genetic variations in the promoter region of FAS/FASL may play an important role in the pathogenesis of CMPD by inducing apoptosis.…”

Section: Introductionmentioning

confidence: 99%

FAS/FASL gene polymorphisms in Turkish patients with chronic myeloproliferative disorders

Özdemirkiran

Nalbantoglu

Gokgoz

et al. 2017

aoms

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IntroductionChronic myeloproliferative disorders (CMPD) are chronic myeloid hematological disorders, characterized by increased myeloid cell proliferation and fibrosis. Impaired apoptotic mechanisms, increased cell proliferation, uncontrolled hematopoietic cell proliferation and myeloaccumulation may contribute to the pathogenesis of CMPD. The aim of our study was to show the possible role of FAS/FASL gene polymorphisms in CMPD pathogenesis and investigate the association with clinical parameters and susceptibility to disease.Material and methodsWe included 101 (34 polycythemia vera (PV), 23 primary myelofibrosis (PMF), 44 essential thrombocythemia (ET)) CMPD patients diagnosed according to the WHO classification criteria and 95 healthy controls in this study. All the patients and the controls were investigated for FAS/FASL gene expression, allele frequencies and phenotype features, and also FAS mRNA levels were analyzed.ResultsChronic myeloproliferative disorders patients showed increased FAS-670AG + GG genotype distribution compared with the control group (p < 0.05). While the A allele was more frequent in both groups, AG genotype was more frequent in CMPD patients. There was no association between FAS-670A>G gene polymorphism and some clinical parameters such as splenomegaly and thrombosis (p > 0.05). No statistically significant difference in FASL+843C>T genotype or allele frequency was found between groups (p > 0.05). Moreover, no statistically significant difference was detected in FASL and JAK2V617F mutations (p > 0.05). FAS mRNA expression was 1.5-fold reduced in patients compared to healthy subjects.ConclusionsAccording to our findings, FAS/FASL gene expression may contribute to the molecular and immunological pathogenesis of CMPD. More investigations are needed to support these data.

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Section: Introductionmentioning

confidence: 99%

FAS/FASL gene polymorphisms in Turkish patients with chronic myeloproliferative disorders

Özdemirkiran

Nalbantoglu

Gokgoz

et al. 2017

aoms

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The Role of Caspase Genes Polymorphisms in Genetic Susceptibility to Philadelphia-Negative Myeloproliferative Neoplasms in a Portuguese Population

Azevedo

Silva

Reichert

et al. 2018

Pathol. Oncol. Res.

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Our main aim was to evaluate the role of caspases' genes SNPs in Philadelphia-chromosome negative chronic myeloproliferative neoplasms (PN-MPNs) susceptibility. A case-control study in 133 Caucasian Portuguese PN-MPNs patients and 281 matched controls was carried out, studying SNPs in apoptosis related caspases: rs1045485 and rs1035142 (CASP8), rs1052576, rs2308950, rs1132312 and rs1052571 (CASP9), rs2227309 and rs2227310 (CASP7) and rs13006529 (CASP10). After stratification by pathology diagnosis for essential thrombocythemia (ET), female gender or JAK2 positive, there is a significant increased risk for those carrying at least one variant allele for CASP9 (C653T) polymorphism (OR 2.300 CI 95% [1.180-4.484], P = 0.014). However, when considered individually, none of the studied caspases polymorphisms was associated with PN-MPNs risk. Our results do not reveal a significant involvement of caspase genes polymorphisms on the individual susceptibility towards PN-MPNs as a whole. However, for essential thrombocythemia (ET), female gender or JAK2 positive, there is a significant increased risk to those carrying at least one variant allele for CASP9. Although larger studies are required to confirm these results and to provide conclusive evidence of association between these and other caspases variants and PN-MPNs susceptibility, these new data may contribute to a best knowledge of the pathophysiology of these disorders and, in the future, to a more rational and efficient choice of therapeutic strategies to be adopted in PN-MPNs treatment.

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The expression of Death Inducer-Obliterator (DIDO) variants in Myeloproliferative Neoplasms

Berzoti-Coelho¹,

Ferreira²,

Nunes³

et al. 2016

Blood Cells, Molecules, and Diseases

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Desregulação da apoptose em neoplasias mieloproliferativas crônicas

Cited by 15 publications

References 27 publications

FAS/FASL gene polymorphisms in Turkish patients with chronic myeloproliferative disorders

FAS/FASL gene polymorphisms in Turkish patients with chronic myeloproliferative disorders

The Role of Caspase Genes Polymorphisms in Genetic Susceptibility to Philadelphia-Negative Myeloproliferative Neoplasms in a Portuguese Population

The expression of Death Inducer-Obliterator (DIDO) variants in Myeloproliferative Neoplasms

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