Tuberous sclerosis complex protein 1 expression is affected by VHL Gene alterations and HIF-1α production in sporadic clear-cell renal cell carcinoma

Autor: Bojana Ilic, Gordana Rodic, Nela Puškaš, Vera N Todorovic, Ivana Milicevic, Dusan Ilic, Jovana Z Bankovic, Svetozar Damjanovic, Cane Tulic, Jadranka Antic, Bojana Beleslin Cokic
Rok vydání: 2016
Předmět:
Adult
Male
0301 basic medicine
congenital
hereditary
and neonatal diseases and abnormalities
Clinical Biochemistry
Biology
urologic and male genital diseases
medicine.disease_cause
Tuberous Sclerosis Complex 1 Protein
Pathology and Forensic Medicine
03 medical and health sciences
Tuberous sclerosis
0302 clinical medicine
Tuberous Sclerosis Complex 2 Protein
medicine
Humans
Carcinoma
Renal Cell
Molecular Biology
Aged
Aged
80 and over
Mutation
Tumor Suppressor Proteins
Middle Aged
Hypoxia-Inducible Factor 1
alpha Subunit
medicine.disease
Molecular biology
Kidney Neoplasms
female genital diseases and pregnancy complications
Gene Expression Regulation
Neoplastic
Clear cell renal cell carcinoma
030104 developmental biology
medicine.anatomical_structure
Hypoxia-inducible factors
Von Hippel-Lindau Tumor Suppressor Protein
030220 oncology & carcinogenesis
Cancer research
biology.protein
Female
TSC1
TSC2
Immunostaining
RHEB
Zdroj: Experimental and Molecular Pathology. 101:323-331
ISSN: 0014-4800
Popis: Alterations in von Hippel-Lindau gene (VHL) do not determine deregulation of hypoxia-inducible factors (HIFs) in clear-cell renal carcinoma (ccRCC). Their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expressions in sporadic ccRCC are unknown. Therefore, we analyze the impact of VHL alterations and HIF-α production on the expression of TSC proteins and Hsp90 in these tumors. Alterations in VHL gene region exhibited 37/47 (78.7%) tumors. Monoallelic inactivation (intragenic mutation or LOH) was found in 10 (21.3%) and biallelic inactivation (intragenic mutation plus LOH) in 27 (57.4%) ccRCCs. Tumorous expression of HIF-α mRNAs, HIF-α, Hsp90 and TSC2 were VHL independent; TSC2 was underexpressed in all tumors by immunostaining (P
Databáze: OpenAIRE
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