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Characterization of Genetic Heterogeneity in Recurrent Metastases of Renal Cell Carcinoma.
Sauter-Meyerhoff, Carolin; Bohnert, Regina; Mazzola, Pascale; Stühler, Viktoria; Kandabarau, Siarhei; Büttner, Florian A; Winter, Stefan; Herrmann, Lisa; Rausch, Steffen; Hennenlotter, Jörg; Fend, Falko; Scharpf, Marcus; Stenzl, Arnulf; Ossowski, Stephan; Bedke, Jens; Schwab, Matthias; Schaeffeler, Elke.
Afiliación
  • Sauter-Meyerhoff C; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
  • Bohnert R; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
  • Mazzola P; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
  • Stühler V; Department of Urology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Kandabarau S; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
  • Büttner FA; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
  • Winter S; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
  • Herrmann L; Department of Urology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Rausch S; Department of Urology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Hennenlotter J; Department of Urology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Fend F; Institute of Pathology and Neuropathology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Scharpf M; Institute of Pathology and Neuropathology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Stenzl A; Department of Urology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
  • Bedke J; Department of Urology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Schwab M; German Cancer Consortium (DKTK), Partner Site Tuebingen, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
  • Schaeffeler E; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
Cancers (Basel) ; 13(24)2021 Dec 10.
Article en En | MEDLINE | ID: mdl-34944839
Metastatic renal cell carcinoma (RCC) exhibits poor prognosis. Better knowledge of distant metastases is crucial to foster personalized treatment strategies. Here, we aimed to investigate the genetic landscape of metastases, including synchronous and/or recurrent metastases to elucidate potential drug target genes and clinically relevant mutations in a real-world setting of patients. We assessed 81 metastases from 56 RCC patients, including synchronous and/or recurrent metastases of 19 patients. Samples were analysed through next-generation sequencing with a high coverage (~1000× mean coverage). We therefore established a novel sequencing panel comprising 32 genes with impact on RCC development. We observed a high frequency of mutations in known RCC driver genes (e.g., >40% carriers of VHL and PBRM1 mutations) in metastases irrespective of the metastatic site. The somatic mutational composition was significantly associated with cancer-specific survival (p(logrank) = 0.03). Moreover, we identified in 34 patients at least one drug target gene as well as clinically relevant mutations listed in the VICC Meta-Knowledgebase in 7%. In addition to significantly higher mutational burden in recurrent metastases compared to earlier ones, synchronous and/or recurrent metastases of individual patients, even after a time-period >2 yrs, shared a high proportion of somatic events. Our data demonstrate the importance of somatic profiling in metastases for precision medicine in RCC.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Cancers (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Cancers (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza