Genetic mutations in salivary duct carcinoma

Area of Science:

• Oncology
• Genetics
• Genomics

Background:

• Salivary duct carcinoma (SDC) lacks validated targeted therapies despite known genetic mutations.
• Cancer genomic profiling is underutilized in clinical practice for SDC.
• Understanding the genomic landscape of SDC is crucial for developing targeted treatments.

Purpose of the Study:

• To characterize the mutational profile of recurrent and/or metastatic SDC.
• To identify potential therapeutic targets and prognostic markers in SDC.

Main Methods:

• Analysis of 207 SDC patients from the Japan National Cancer Center (June 2019 - October 2025).
• Next-generation sequencing to determine genetic mutations.
• Log-rank test and Cox proportional hazards model for survival analysis.

Main Results:

• The most frequent mutations in SDC were TP53 (74.4%), ERBB2 (52.2%), and NF1 (32.4%).
• TP53 mutations were significantly associated with a worse prognosis (p = 0.005707; Hazard Ratio = 2.6390).
• An average of 17.1 ± 7.2 mutations per individual were observed.

Conclusions:

• This study provides a comprehensive mutational spectrum for recurrent/metastatic SDC.
• Prognostically relevant mutations, particularly TP53, were identified in advanced SDC.
• The findings underscore the clinical utility of cancer genomic profiling in SDC management.