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 and mutations) in metastases irrespective of the metastatic site. The somatic mutational composition was significantly associated with cancer-specific survival ((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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8699544 | PMC |
| http://dx.doi.org/10.3390/cancers13246221 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Expression of interleukin-17 in oral tongue squamous cell carcinoma and its effect on biological behavior.
Sci Rep
January 2025
School of Stomatology, Bengbu Medical University, No. 2600 Donghai Road, Bengbu, 233030, China.
Tongue squamous cell carcinoma (TSCC) is a common malignant oral cancer characterized by substantial invasion, a high rate of lymph node and distant metastasis, and a high recurrence rate. This study aims to provide new ideas for the diagnosis and treatment of TSCC patients by exploring the related mechanisms that affect the migration and invasion of TSCC and inhibit the migration and spread of cancer cells. The results indicated the rate of high expression of IL-17 in cancer tissues was greater than that in tongue tissues, and the expression of IL-17 was related to the TNM stage.
View Article and Find Full Text PDFClinical patterns and outcomes of patients affected by primary malignant melanoma of the oral mucosa: A European multicenter retrospective chart review.
J Craniomaxillofac Surg
January 2025
Department of Oral and Maxillofacial Diseases, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Introduction: The purpose of this European multicenter study was to describe and assess the characteristics, diagnosis, management, and recurrence of oral malignant melanoma at different European oral and maxillofacial surgery centers.
Materials And Methods: This study was based on a systematic computer-assisted database that allowed the recording of data for all primary oral mucosal melanomas treated in the involved surgical units across Europe between January 1, 2003 and December 31, 2022. The following data were recorded for each patient: gender, age, site, TNM staging, metastases, symptoms, imaging features, histopathological features, treatment, complications, recurrence, follow up, and survival.
Therapeutic outcomes and safety of radiofrequency ablation for primary papillary thyroid carcinoma: A game-changing meta-analysis.
Radiother Oncol
January 2025
Department of Surgery, School of Medicine, Tulane University, New Orleans, LA 70112, USA. Electronic address:
Background: Radiofrequency ablation (RFA) is an emerging treatment option for small, low-risk papillary thyroid carcinoma (PTC). This systematic review and meta-analysis aimed to evaluate and compare the efficacy and safety profiles of RFA for primary T1a vs. T1b PTC.
View Article and Find Full Text PDFAdenoid cystic carcinoma of the tongue: A case study highlighting surgical management of an exceptionally rare entity.
Int J Surg Case Rep
January 2025
Department of Pathology, School of Medicine, Shiraz University of Medical Sciences, Iran.
Background: Adenoid cystic carcinoma (ACC) is a rare malignant tumor that accounts for <1 % of head and neck malignancies, with an estimated involvement of the tongue at approximately 3 %.
Case Presentation: This report presents a case of a 42-year-old male with no significant history of tobacco or alcohol use, who developed a painless, progressively enlarging mass on the ventral surface of his tongue over the course of eight months. Initial surgical resection confirmed the diagnosis of ACC, which necessitated a right hemiglossectomy followed by radiotherapy to address potential residual disease.
Bilateral Choroidal Metastases from Primary Cutaneous Melanoma Following Nivolumab Discontinuation: A Case Report.
Ocul Immunol Inflamm
January 2025
Ocular Oncology Service, Institute of Oncology, Tecnologico de Monterrey, Monterrey, Mexico.
Purpose: To present the case of a young patient with BRAF V600E-mutant cutaneous melanoma who developed bilateral choroidal metastases complicated by neovascular glaucoma (NVG) in both eyes following the interruption of nivolumab therapy.
Methods: A 28-year-old female with primary cutaneous melanoma of the left hand underwent surgical resection and adjuvant nivolumab. Immunotherapy was discontinued due to immune-related acute interstitial nephritis.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!