LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 2 of total 2

Search options

  1. Article ; Online: DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling.

    Mellid, Sara / García, Fernando / Leandro-García, Luis Javier / Díaz-Talavera, Alberto / Martínez-Montes, Ángel Mario / Gil, Eduardo / Calsina, Bruna / Monteagudo, María / Letón, Rocío / Roldán-Romero, Juan María / Santos, María / Lanillos, Javier / Valdivia, Carlos / Martínez-Puente, Natalia / de Nicolás-Hernández, Javier / Jiménez, Scherezade / Pérez-Martínez, Manuel / Honrado, Emiliano / Coloma, Javier /
    Cerezo, Ana / Santiveri, Clara María / Esteller, Manel / Campos-Olivas, Ramón / Caleiras, Eduardo / Montero-Conde, Cristina / Rodríguez-Antona, Cristina / Muñoz, Javier / Robledo, Mercedes / Cascón, Alberto

    Cancer communications (London, England)

    2023  Volume 43, Issue 7, Page(s) 838–843

    MeSH term(s) Humans ; Pheochromocytoma/genetics ; Proteome/genetics ; Paraganglioma/genetics ; Mutation ; Adrenal Gland Neoplasms/genetics
    Chemical Substances Proteome
    Language English
    Publishing date 2023-05-04
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ISSN 2523-3548
    ISSN (online) 2523-3548
    DOI 10.1002/cac2.12427
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  2. Article ; Online: Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome.

    Roldan-Romero, Juan María / Santos, María / Lanillos, Javier / Caleiras, Eduardo / Anguera, Georgia / Maroto, Pablo / García-Donas, Jesús / de Velasco, Guillermo / Martinez-Montes, Ángel Mario / Calsina, Bruna / Monteagudo, María / Letón, Rocío / Leandro-García, Luis Javier / Montero-Conde, Cristina / Cascón, Alberto / Robledo, Mercedes / Rodriguez-Antona, Cristina

    Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

    2020  Volume 33, Issue 12, Page(s) 2580–2590

    Abstract: Chromophobe renal cell carcinoma (chRCC) is a histologically and molecularly distinct class of rare renal tumor. TCGA studies revealed low mutational burden, with only TP53 and PTEN recurrently mutated, and discovered alterations in TERT promoter and in ... ...

    Abstract Chromophobe renal cell carcinoma (chRCC) is a histologically and molecularly distinct class of rare renal tumor. TCGA studies revealed low mutational burden, with only TP53 and PTEN recurrently mutated, and discovered alterations in TERT promoter and in the electron transport chain Complex I genes. However, knowledge on drug targetable genes is limited and treatments at metastatic stage do not follow a molecular rationale. In a large series of 92 chRCC enriched with metastatic cases, we performed an in-depth characterization of mTOR pathway alterations through targeted NGS and immunohistochemistry (IHC) of phospho-S6, tuberin, and PTEN. Mutations in mitochondria, telomere maintenance and other renal cancer related genes and p53 IHC, were also assessed. The impact on metastasis development and disease specific survival was determined, using TCGA-KICH series (n = 65) for validation. mTOR pathway mutations (MTOR, TSC1, TSC2) were present in 17% of primary tumors, most of them being classified as pathogenic. Mutations were associated with positive IHC staining of phospho-S6 and PTEN (P = 0.009 and P = 0.001, respectively) and with chRCC eosinophilic variant (P = 0.039), supporting a biological relevance of the pathway. mTOR pathway mutations were associated with worse clinical outcomes. Survival analysis gave a hazard ratio of 5.5 (P = 0.027), and this association was confirmed in TCGA-KICH (HR = 10.3, P = 0.006). TP53 mutations were enriched in metastatic cases (P = 0.018), and mutations in telomere maintenance genes showed a trend in the same direction. p53 IHC staining pattern was associated with the underlying TP53 defect, and negative PTEN IHC staining (82% of cases) suggested PTEN loss as a chRCC hallmark. In conclusion, our study provides with novel genomic knowledge in chRCC and identifies novel markers of poor survival. Furthermore, this is the first study showing that mTOR pathway mutations correlate with poor prognosis, and may help to identify patients with increased sensitivity to mTOR inhibitors.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/analysis ; Biomarkers, Tumor/genetics ; Carcinoma, Renal Cell/chemistry ; Carcinoma, Renal Cell/genetics ; Carcinoma, Renal Cell/pathology ; Carcinoma, Renal Cell/therapy ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Immunohistochemistry ; Kidney Neoplasms/chemistry ; Kidney Neoplasms/genetics ; Kidney Neoplasms/pathology ; Kidney Neoplasms/therapy ; Male ; Middle Aged ; Mutation ; PTEN Phosphohydrolase/analysis ; Phenotype ; Phosphorylation ; Ribosomal Protein S6 Kinases/analysis ; TOR Serine-Threonine Kinases/genetics ; Tuberous Sclerosis Complex 1 Protein/genetics ; Tuberous Sclerosis Complex 2 Protein/analysis ; Tuberous Sclerosis Complex 2 Protein/genetics ; Tumor Suppressor Protein p53/genetics
    Chemical Substances Biomarkers, Tumor ; TP53 protein, human ; TSC1 protein, human ; TSC2 protein, human ; Tuberous Sclerosis Complex 1 Protein ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Protein p53 ; MTOR protein, human (EC 2.7.1.1) ; Ribosomal Protein S6 Kinases (EC 2.7.11.1) ; TOR Serine-Threonine Kinases (EC 2.7.11.1) ; PTEN Phosphohydrolase (EC 3.1.3.67) ; PTEN protein, human (EC 3.1.3.67)
    Language English
    Publishing date 2020-07-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 645073-8
    ISSN 1530-0285 ; 0893-3952
    ISSN (online) 1530-0285
    ISSN 0893-3952
    DOI 10.1038/s41379-020-0607-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2450: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top