Skip to main content
AAO-HNSF 2025 Annual Meeting & OTO EXPO Main banner
Icon Legend
This session is not in your schedule.
This session is in your schedule. Click again to remove it.
Rate ePoster
Video

Laryngology/Broncho-Esophagology

(A737) Somatic Mutational Landscape of Laryngeal Squamous Cell Carcinoma: Implications for Tumor Progression and Precision Medicine

Monday, October 13, 2025
12:00 PM - 1:00 PM EDT
Location: OTO EXPO, Posters

    Presenting Author(s)

  • Gabriel A. Bitar, B.S.

    Medical Student
    Creighton university School of Medicine
    Phoenix, Arizona, United States

    • Co-Author(s)

  • Nathan Tran, BS

    Medical Student
    Texas Tech University Health Sciences Center School of Medicine
    Houston, Texas, United States

  • Katelin R. Keenehan, BS

    Medical Student
    Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo
    Rochester, NY, United States

  • Pedro S. Bonilla, MSc

    Medical Student
    Michigan State University College of Human Medicine
    Los Angeles, California, United States

  • Beau Hsia, BS

    Medical student
    Creighton University
    Phoenix, Arizona, United States

  • Saif Alshaka, Other

    Medical Student
    Creighton University School of Medicine
    Phoenix, Arizona, United States

  • Amanda Joy Bastien, MD

    Resident Physician
    Cedars-Sinai Medical Center Program
    Los Angeles, CA, United States

  • AK

    Aliasgher Khaku, MD

    James A Haley VA Medical Center, United States

  • SP

    Sean Polster, MD

    Associate professor
    University of Chicago
    Chicago, Illinois, United States

    • Senior Author(s)

  • VP

    Vijay A. Patel, MD

    Assistant Professor
    Rady Children's Hospital / UCSD
    San Diego, CA, United States

Disclosure(s):
Gabriel A. Bitar, B.S.: No relevant relationships to disclose.
Nathan Tran, BS: No relevant relationships to disclose.
Katelin R. Keenehan, BS: No relevant relationships to disclose.
Pedro S. Bonilla, MSc: No relevant relationships to disclose.
Beau Hsia, BS: No relevant relationships to disclose.
Saif Alshaka, Other: No relevant relationships to disclose.
Amanda Joy Bastien, MD: No relevant relationships to disclose.
Sean Polster, MD: No relevant relationships to disclose.
Vijay A. Patel, MD: No relevant relationships to disclose.


Introduction: Despite advancements in diagnosis and treatment, LSCC remains challenging due to its proximity to critical structures and aggressive nature in advanced stages. Treatment includes surgery, radiation, and, in select cases, concurrent chemoradiation, determined by tumor stage and location. This study profiles the somatic mutational landscape of LSCC using the American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE)® database, focusing on genetic variations, tumor progression, and precision medicine.

Methods: Using a retrospective study design, clinical and genomic data from 135 LSCC samples were analyzed from the AACR Project GENIE® database. The database was accessed via the cBioPortal (v16.1-public) online software on July 22, 2024, with clinical data dating back to 2017. The study included both primary and metastatic tumors. Mutational profiles were compared across tumor sites and between genders. Independent variables included tumor site, gender, and mutation type, while outcomes measured included mutation frequency and associations with tumor progression. Statistical analyses were performed using chi-squared and Mann-Whitney U tests to assess significance.

Results: TP53 mutations were most prevalent (89.6%), followed by KMT2D (27.4%), FAT1 (20.7%), and NOTCH1 (20.7%). Gender differences included CDK8 mutations in females (p=0.011) and ATP8B1 in males (p=0.013). DMD mutations were enriched in primary tumors (p=0.049), while ATP8B1 mutations were linked to metastases (p < 0.001). Most patients were White (71.5%), followed by Asian (8.5%), Black (3.1%), and Other (3.8%). Males constituted 89.2% of the cohort; 59.2% of samples were primary tumors, 39.2% were recurrent/metastatic.

Conclusions: LSCC exhibits genetic heterogeneity, with TP53 critical for progression and SAMD9L/ATP8B1 potential metastatic markers. Gender-specific differences suggest tailored therapies, including pembrolizumab targeting TP53-associated pathways, advancing precision medicine.