Reconstructing Oral Cavity Tumor Evolution Through Brush Biopsy

Authors

Evit John
Tom Lesluyes
Toby M Baker
Maxime Tarabichi
Ann Gillenwater
Jennifer R Wang
Peter Van Loo
Xiao Zhao

Publication Date

9-30-2024

Journal

Scientific Reports

Abstract

Oral potentially malignant disorders (OPMDs) with genomic alterations have a heightened risk of evolving into oral squamous cell carcinoma (OSCC). Currently, genomic data are typically obtained through invasive tissue biopsy. However, brush biopsy is a non-invasive method that has been utilized for identifying dysplastic cells in OPMD but its effectiveness in reflecting the genomic landscape of OPMDs remains uncertain. This pilot study investigates the potential of brush biopsy samples in accurately reconstructing the genomic profile and tumor evolution in a patient with both OPMD and OSCC. We analyzed single nucleotide variants (SNVs), copy number aberrations (CNAs), and subclonal architectures in paired tissue and brush biopsy samples. The results showed that brush biopsy effectively captured 90% of SNVs and had similar CNA profiles as those seen in its paired tissue biopsies in all lesions. It was specific, as normal buccal mucosa did not share these genomic alterations. Interestingly, brush biopsy revealed shared SNVs and CNAs between the distinct OPMD and OSCC lesions from the same patient, indicating a common ancestral origin. Subclonal reconstruction confirmed this shared ancestry, followed by divergent evolution of the lesions. These findings highlight the potential of brush biopsies in accurately representing the genomic profile of OPL and OSCC, proving insight into reconstructing tumor evolution.

Keywords

Humans, Mouth Neoplasms, Biopsy, DNA Copy Number Variations, Polymorphism, Single Nucleotide, Carcinoma, Squamous Cell, Pilot Projects, Male, Middle Aged, Genomics, Female, Mouth Mucosa, Cancer, Oral cancer, Oncology, Cancer, Surgical oncology, Evolvability, Cancer genetics, Cancer genomics, Genomics, Mutation, Sequencing

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Associated Data

PMID: 39343812