Conexiant
Login
  • The Analytical Scientist
  • The Cannabis Scientist
  • The Medicine Maker
  • The Ophthalmologist
  • The Pathologist
  • The Traditional Scientist
The Pathologist
  • Explore Pathology

    Explore

    • Latest
    • Insights
    • Case Studies
    • Opinion & Personal Narratives
    • Research & Innovations
    • Product Profiles

    Featured Topics

    • Molecular Pathology
    • Infectious Disease
    • Digital Pathology

    Issues

    • Latest Issue
    • Archive
  • Subspecialties
    • Oncology
    • Histology
    • Cytology
    • Hematology
    • Endocrinology
    • Neurology
    • Microbiology & Immunology
    • Forensics
    • Pathologists' Assistants
  • Training & Education

    Career Development

    • Professional Development
    • Career Pathways
    • Workforce Trends

    Educational Resources

    • Guidelines & Recommendations
    • App Notes

    Events

    • Webinars
    • Live Events
  • Events
    • Live Events
    • Webinars
  • Profiles & Community

    People & Profiles

    • Power List
    • Voices in the Community
    • Authors & Contributors
  • Multimedia
    • Video
    • Podcasts
    • Pathology Captures
Subscribe
Subscribe

False

The Pathologist / Issues / 2025 / July / Genetic Markers Differentiate Salivary Gland Tumors
Oncology Molecular Pathology Genetics and epigenetics Oncology Precision medicine Digital and computational pathology Research and Innovations

Genetic Markers Differentiate Salivary Gland Tumors

Genetic and epigenetic profiling distinguish pleomorphic adenoma from carcinoma ex pleomorphic adenoma

07/01/2025 News 2 min read

Share

Over half of carcinoma ex pleomorphic adenoma cases harbored pathogenic mutations—most commonly in TP53 and HRAS—while none were found in pleomorphic adenomas, according to a recent study published in Modern Pathology.

A prospective study evaluated the use of DNA methylation profiling and targeted next-generation sequencing (NGS) to distinguish pleomorphic adenoma (PA) from carcinoma ex pleomorphic adenoma (CXPA). The analysis included 140 salivary gland tumors—66 identified as PA and 74 as CXPA—collected through the French Rare Head and Neck Cancer Expert Network and the tumor bank of Toulouse University Hospital.

Methylation profiling was performed on 66 formalin-fixed paraffin-embedded tissue samples (33 PAs and 33 CXPAs) covering over 850,000 CpG sites. Hierarchical clustering categorized tumors into three groups based on methylation patterns: benign (n = 16), intermediate (n = 25), and malignant (n = 24). All ten invasive CXPAs were included in the malignant cluster, which had a median patient age of 65 years and a median Ki67 index of 25 percent. Three PAs were also grouped with malignant cases, though they showed no pathogenic mutations and had either flat or minimal copy number alterations.

Targeted NGS was performed on 130 tumors using a 48- to 50-gene panel. No pathogenic mutations were detected in any of the 63 PA cases. In contrast, 37 of 67 CXPA cases (55 percent) harbored pathogenic or likely pathogenic variants. The most frequently affected genes were TP53 and HRAS, with the HRAS p.Q61R variant found in 7 of 11 HRAS-mutated tumors. TERT promoter mutations (c.-124C>T and c.146C>T) were present in 2 of 13 myoepithelial CXPA cases. PD-L1 expression was observed in one of these two cases.

Copy number alterations (CNAs) were derived from methylation array data. The malignant cluster exhibited a median of 3.5 chromosomal alterations, with frequent gains in chromosomes 5 and 8. The benign cluster showed fewer genomic alterations, with 56 percent of cases exhibiting flat CNA profiles and a median Ki67 index of 10 percent.

Pathogenic alterations in TP53, HRAS, PTEN, and TERT, as well as HER2 amplification, were observed only in CXPA cases. The findings indicate that molecular data may support histologic assessment in the classification of tumors within the PA–CXPA spectrum.

Newsletters

Receive the latest analytical scientist news, personalities, education, and career development – weekly to your inbox.

Newsletter Signup Image

Explore More in Analytical Science

Dive deeper into the analytical science. Explore the latest articles, case studies, expert insights, and groundbreaking research.

False

Advertisement

Recommended

False

Related Content

Redefining Diagnostic Reference Standards
Molecular Pathology
Redefining Diagnostic Reference Standards

January 3, 2022

1 min read

Find out what Horizon Discovery’s diagnostic reference standards can do for your workflow

Non-invasive Prostate Cancer Screening
Molecular Pathology
Non-invasive Prostate Cancer Screening

November 5, 2014

1 min read

Can SERS accurately detect the early stages of the most common male cancer?

Sequencing Access for All
Molecular Pathology
Sequencing Access for All

January 24, 2022

1 min read

An affordable genome sequencing pipeline for low- and middle-income countries

Improving Risk Stratification
Molecular Pathology
Improving Risk Stratification

February 3, 2022

1 min read

Two genes have been identified that may be linked to prostate cancer outcomes

False

The Pathologist
Subscribe

About

  • About Us
  • Work at Conexiant Europe
  • Terms and Conditions
  • Privacy Policy
  • Advertise With Us
  • Contact Us

Copyright © 2025 Texere Publishing Limited (trading as Conexiant), with registered number 08113419 whose registered office is at Booths No. 1, Booths Park, Chelford Road, Knutsford, England, WA16 8GS.