Background/aim: Differentiated vulvar intraepithelial neoplasia (dVIN) and lichen sclerosus (LS) can give rise to vulvar squamous cell carcinoma (VSCC), but genetic evidence is currently still limited. We aimed to determine genetic abnormalities in VSCC and backtrack these abnormalities in the dVIN and LS lesions.
Materials And Methods: DNA from VSCC and patient-matched dVIN and LS samples of twelve patients was collected. High-resolution genome-wide copy number analysis was performed and subsequently, we sequenced TP53.
Results: Copy number alterations were identified in all VSCC samples. One dVIN lesion presented with three copy number alterations that were preserved in the paired VSCC sample. Targeted sequencing of TP53 identified mutations in five VSCCs. All five mutations were traced back in the dVIN (n=5) or the LS (n=1) with frequencies ranging from 3-19%.
Conclusion: Our data provide genetic evidence for a clonal relationship between VSCC and dVIN or LS.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078831 | PMC |
| http://dx.doi.org/10.21873/cgp.20175 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Leadless pacemaker implantation after delayed atrial lead perforation and battery depletion: a case report.
BMC Cardiovasc Disord
December 2024
Department of Cardiology, The First Affiliated Hospital of Dalian Medical University, Dalian, China.
Background: Delayed lead perforation is a rare complication of cardiac implantable electronic device (CIED). Clinical presentations range from completely asymptomatic to pericardial tamponade. Surgical lead extraction is recommended and transvenous lead extraction (TLE) with surgical backup is an alternative method.
View Article and Find Full Text PDFTherapy response monitoring in blood plasma from esophageal adenocarcinoma patients using cell-free DNA methylation profiling.
Sci Rep
December 2024
Translational Oncogenomics and Bioinformatics Lab, Center for Medical Biotechnology, VIB-UGent & CRIG, Technologiepark-Zwijnaarde 75, 9052, Ghent, Belgium.
Esophageal adenocarcinoma (EAC) is an aggressive cancer characterized by a high risk of relapse post-surgery. Current follow-up methods (serum carcinoembryonic antigen detection and PET-CT) lack sensitivity and reliability, necessitating a novel approach. Analyzing cell-free DNA (cfDNA) from blood plasma emerges as a promising avenue.
View Article and Find Full Text PDFMultiomics integration and machine learning reveal prognostic programmed cell death signatures in gastric cancer.
Sci Rep
December 2024
Clinical Teaching Hospital of Medical School, Nanjing Children's Hospital, Nanjing University, Nanjing, 210008, China.
Gastric cancer (GC) is characterized by notable heterogeneity and the impact of molecular subtypes on treatment and prognosis. The role of programmed cell death (PCD) in cellular processes is critical, yet its specific function in GC is underexplored. This study applied multiomics approaches, integrating transcriptomic, epigenetic, and somatic mutation data, with consensus clustering algorithms to classify GC molecular subtypes and assess their biological and immunological features.
View Article and Find Full Text PDFWhole-genome Sequencing Analysis of Bile Tract Cancer Reveals Mutation Characteristics and Potential Biomarkers.
Cancer Genomics Proteomics
December 2024
Division of Surgical Oncology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Background/aim: Bile tract cancer (BTC) is a malignant tumor with a poor prognosis. Recent studies have reported the heterogeneity of the genomic background and gene alterations in BTC, but its genetic heterogeneity and molecular profiles remain poorly understood. Whole-genome sequencing may enable the identification of novel actionable gene mutations involved in BTC carcinogenesis, malignant progression, and treatment resistance.
View Article and Find Full Text PDFImmune Stress-induced Tumor Mutation Burden and Neoantigen Expression in 4T1 Mammary Cancer Cells: A Potential Mechanism for Long-term Survival in Patients Treated With Immune Checkpoint Inhibitors.
Cancer Genomics Proteomics
December 2024
Department of Medicine, Division of Medical Oncology, School of Medicine, Showa University, Tokyo, Japan;
Background/aim: The Kaplan-Meier curves for patients treated with immune checkpoint inhibitors (ICIs) display a small group of potentially-cured patients with long-term survival, creating a 'kangaroo-tail' shape of the survival curve. However, the mechanistic basis of this phenomenon and what occurs in patients whose cancer is resistant to ICIs remain unclear. The present study aimed to answer these questions.
View Article and Find Full Text PDFWant 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!