Here we report the discovery of recurrent mutations concentrated at an ultraviolet signature hotspot in KNSTRN, which encodes a kinetochore protein, in 19% of cutaneous squamous cell carcinomas (SCCs). Cancer-associated KNSTRN mutations, most notably those encoding p.Ser24Phe, disrupt chromatid cohesion in normal cells, occur in SCC precursors, correlate with increased aneuploidy in primary tumors and enhance tumorigenesis in vivo. These findings suggest a role for KNSTRN mutagenesis in SCC development.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324615 | PMC |
| http://dx.doi.org/10.1038/ng.3091 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Outcomes With Radiation Therapy as Primary Treatment for Unresectable Cutaneous Head and Neck Squamous Cell Carcinoma.
Clin Oncol (R Coll Radiol)
December 2024
Radiation Oncology Network, Westmead Hospital, Westmead, NSW, Australia; Sydney Medical School, The University of Sydney, Camperdown, NSW 2006, Australia. Electronic address:
Aims: Unresectable cutaneous squamous cell cancer of the head and neck (HNcSCC) poses treatment challenges in elderly and comorbid patients. Radiation therapy (RT) is often employed for locoregional control. This study aimed to determine progression-free survival (PFS) and overall survival (OS) outcomes achieved with upfront RT in unresectable HNcSCC.
View Article and Find Full Text PDFMohs Micrographic Surgery Efficacy for Solid Organ Transplant Head and Neck Cutaneous Squamous Cell Carcinoma.
Otolaryngol Head Neck Surg
January 2025
Department of Otolaryngology-Head and Neck Surgery, Lewis Katz School of Medicine, Philadelphia, Pennsylvania, USA.
Objective: Solid organ transplant (SOT) recipients carry a higher incidence of cutaneous squamous cell carcinoma (cSCC) with more aggressive features and worse outcomes compared to immunocompetent (IC) patients. The National Comprehensive Cancer Network advocates peripheral and deep en-face margin assessment such as Mohs micrographic surgery (MMS) for very-high-risk cSCC. We aim to assess the efficacy of MMS in the treatment of SOT immunosuppressed head and neck (HN) cSCC patients.
View Article and Find Full Text PDFSunscreen Use and Cutaneous Squamous Cell Carcinoma Risk: A Review of the Evidence.
Acta Derm Venereol
January 2025
Oslo Centre for Biostatistics and Epidemiology, Department of Biostatistics, Institute of Basic Medical Sciences, University of Oslo, Norway.
Pseudoepitheliomatous hyperplasia misdiagnosed as cutaneous squamous cell carcinoma: a case report.
J Surg Case Rep
January 2025
Department of Dermatology, The First Affiliated Hospital of Ningbo University, 59 Liuting Street, Ningbo, Zhejiang 315010, China.
Pseudoepitheliomatous hyperplasia (PEH) is a rare histopathological reaction. Cases of PEH have been infrequently reported, and it's even rare to appear as a postsurgical complication. This case report describes the development of multiple masses and purulent discharge around an abdominal scar following surgery for hepatocellular carcinoma, which morphologically resembles squamous cell carcinoma (SCC), though pathology revealed no signs of malignancy.
View Article and Find Full Text PDFVegetative Pyoderma Gangrenosum Mimicking Squamous Cell Carcinoma: A Poorly Recognized Diagnostic Challenge.
Am J Dermatopathol
December 2024
Department of Dermatology, Warren Alpert Medical School of Brown University, Providence, RI.
Pyoderma gangrenosum (PG) is a rare inflammatory neutrophilic dermatosis that is difficult to diagnose due to non-specific clinical, laboratory, and histopathologic features. Distinguishing pseudoepitheliomatous hyperplasia (PEH) from squamous cell carcinoma (SCC) is also histopathologically challenging. The connection between PEH and PG is not well recognized, and instances of PG mimicking SCC are rare.
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!