Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation.
Fam Cancer
; 17(4): 587-599, 2018 10.
Article
en En
| MEDLINE
| ID: mdl-29302811
ABSTRACT
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7253-260, 2014). HLRCC is caused by germline mutations in the FH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. In FH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to be responsible for the malignant transformation (Yang et al., J Clin Invest 123(9)3652-3658, 2013) (Bardella et al., J Pathol 225(1)4-11, 2011). Among these events, one that is gaining attention is the pathological activation of the nuclear factor erythroid 2-related factor 2 (NRF2) pathway, which has been found in several types of cancer and is implicated in the expression of genes associated with antioxidant responses (Linehan and Rouault, Clin Cancer Res 19(13)3345-3352, 2013). In this article, we present the results of a gene expression analysis performed on peripheral blood cells from patients with HLRCC syndrome, where upregulation of numerous NRF2 targets and the differential expression of two key genes, Jun dimerization protein 2 (JDP2) and Phosphoglycerate mutase family member 5 (PGAM5), which are involved in the control of this pathway, was observed.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Cutáneas
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Neoplasias Uterinas
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Síndromes Neoplásicos Hereditarios
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Regulación Neoplásica de la Expresión Génica
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Leiomiomatosis
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Factor 2 Relacionado con NF-E2
Tipo de estudio:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Fam Cancer
Asunto de la revista:
NEOPLASIAS
Año:
2018
Tipo del documento:
Article
País de afiliación:
Colombia