Journal of neurological surgery. Part B, Skull base · 2025
Molecular Profiling of Olfactory Neuroblastoma Using the AACR Project GENIE Database.
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Hsia Beau, Dongre Roshan, Erquizi Aya, Guerra-Navarro Paula V, Bitar Gabriel, Alshaka Saif A, Kim Jeeho D, Valencia-Sanchez Bastien A, Brandel Michael G, Sato Mariko, Crawford John R, Levy Michael L, Patel Vijay A, Polster Sean P
Аннотация
OBJECTIVE: Olfactory neuroblastoma (ONB) is a rare head and neck cancer arising from the upper nasal cavity, with limited systemic therapeutic options due to a poor understanding of its genomic landscape. This study aims to utilize a patient-level genomic repository to identify potential therapeutic targets and improve disease modeling in ONB.
DESIGN: Retrospective genomic analysis.
SETTING: Data analysis was performed using the American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) database.
PARTICIPANTS: Patients with confirmed ONB who have undergone targeted sequencing within GENIE.
MAIN OUTCOMES MEASURES: Data were analyzed for recurrent somatic mutations, along with their clinical and demographic correlations, with significance set at p < 0.05.
RESULTS: A high prevalence of mutations in TP53 (tumor protein p53) and FRK (fibroblast growth factor receptor kinase) genes was identified. A moderate prevalence of mutations in NOTCH3 (notch receptor 3), SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4), RET (rearranged during transfection), and CTCF (CCCTC-binding factor) was also identified. The mutation patterns differed between pediatric and adult ONB cases. Specific mutations were enriched in metastatic tumors compared with primary tumors.
CONCLUSION: This study provides a genomic profile for ONB, identifying key mutations and potential therapeutic targets. The identification of frequently mutated genes like TP53 and FRK suggests potential targets for novel therapies. The observation that certain genes are mutated in pediatric ONB but not adult ONB (and vice versa), and the presence of specific mutations in metastatic tumors that are absent in primary tumors, offers valuable insights for future precision medicine and the design of targeted therapeutic interventions for these distinct clinical presentations.
DESIGN: Retrospective genomic analysis.
SETTING: Data analysis was performed using the American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) database.
PARTICIPANTS: Patients with confirmed ONB who have undergone targeted sequencing within GENIE.
MAIN OUTCOMES MEASURES: Data were analyzed for recurrent somatic mutations, along with their clinical and demographic correlations, with significance set at p < 0.05.
RESULTS: A high prevalence of mutations in TP53 (tumor protein p53) and FRK (fibroblast growth factor receptor kinase) genes was identified. A moderate prevalence of mutations in NOTCH3 (notch receptor 3), SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4), RET (rearranged during transfection), and CTCF (CCCTC-binding factor) was also identified. The mutation patterns differed between pediatric and adult ONB cases. Specific mutations were enriched in metastatic tumors compared with primary tumors.
CONCLUSION: This study provides a genomic profile for ONB, identifying key mutations and potential therapeutic targets. The identification of frequently mutated genes like TP53 and FRK suggests potential targets for novel therapies. The observation that certain genes are mutated in pediatric ONB but not adult ONB (and vice versa), and the presence of specific mutations in metastatic tumors that are absent in primary tumors, offers valuable insights for future precision medicine and the design of targeted therapeutic interventions for these distinct clinical presentations.