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Scientific Oral Presentations

Head and Neck Surgery

Session: Scientific Presentation 3 - Head and Neck Surgery

Genomic Drivers and Therapeutic Opportunities in Oncocytic Thyroid Carcinoma

Sunday, October 12, 2025
1:00 PM - 1:06 PM EDT
Location: 127
Disclosure(s):
Beau E. Hsia, BS:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Amanda Joy Bastien, MD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Vijay A. Patel, MD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Introduction: Oncocytic (Hürthle Cell) thyroid carcinoma (OCA), a rare differentiated thyroid cancer with frequent distant metastasis. OCA is primarily treated with surgery and adjuvant iodine-131 ablation. Currently, there are no approved systemic therapies for recurrent cases, although immunotherapy and receptor tyrosine kinase inhibitors (TKIs) are actively being investigated. The objective of this study is to leverage the AACR GENIE database to further characterize the genetic landscape of OCA, aiming to identify secondary mutations and, furthermore, potential therapeutic targets.

Methods: The American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE)® database was accessed from cBioPortal (v16.1-public) on July 22, 2024 to identify all patients with OCA. Common mutations, demographic correlations, and mutual exclusivities were analyzed via two-sided T-tests, non-parametric tests, and Benjamini-Hochberg FDR correction.

Results: This study analyzed 130 OCA samples from 125 adult patients, predominantly male (61.6%). The majority of patients were White (76.0%), followed by Black (6.4%), Asian (4.0%), and other races (4.8%). TERT was the most frequently mutated gene (n=43, 33.1%), followed by TP53 (n=26, 20.0%), DAXX (n=21, 16.2%), KMT2D (n=17, 13.1%), NF1 (n=16, 12.3%), and PTEN (n=13, 10.0%). Mutations in PC, PCLO, NCOR2, and MST1R were exclusively found in females (p=0.038), while no mutation was found to be significantly enriched in males. Gene mutations PC and PCLO were exclusively found in metastatic samples (p=0.016). DAXX and CDKN1A mutations frequently co-occurred (p < 0.001), while TERT and DAXX mutations were mutually exclusive (p < 0.001).

Conclusions: This study highlights the prevalence of TERT and TP53 mutations in OCA and various mutational enrichments specific to sex and metastasis. TERT and TP53 pathways should be explored as key targets for the development of novel therapeutic strategies for OCA, particularly in the context of recurrent or metastatic disease, where effective systemic treatments are currently lacking.

    Presenting Author(s)

  • Beau E. Hsia, BS

    Medical student
    Creighton University School of Medicine
    Phoenix, AZ, United States

    Disclosure(s):

    faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

    • Co-Author(s)

  • Roshan Dongre

    Medical Student
    Texas A&M School of Engineering Medicine
    Sugar Land, TX, United States

    Disclosure information not submitted.

  • Vinay D. Veluvolu, n/a

    Medical Student
    N/A
    Urbana, IL, United States

    Disclosure information not submitted.

  • Julia M. Kuzniar, BA

    Medical Student
    Robert Wood Johnson Medical School
    Summit, NJ, United States

    Disclosure information not submitted.

  • Gabriel A. Bitar, B.S.

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

    Disclosure information not submitted.

  • SA

    Saif Alshaka, BS

    Creighton University School of Medicine
    Phoenix, Arizona, United States

    Disclosure information not submitted.

  • SR

    Stephen Russell, MD

    Naval Medical Center - San Diego, United States

    Disclosure information not submitted.

    • Presenting Author(s)

  • Amanda Joy Bastien, MD

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

    Disclosure(s):

    faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

    • Co-Author(s)

  • AK

    Aliasgher Khaku, MD

    James A Haley VA Medical Center, United States

    Disclosure information not submitted.

    • Senior Author(s)

  • VP

    Vijay A. Patel, MD

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

    Disclosure(s):

    faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.