What question did this study set out to answer?

The report aims to highlight a rare case of subglottic adenoid cystic carcinoma with a specific genetic mutation and its implications for treatment.

March 16, 2026

A Rare SMARCA4 ‐Deficient Subglottic Adenoid Cystic Carcinoma With Early Pulmonary Metastasis

Key Points

The report aims to highlight a rare case of subglottic adenoid cystic carcinoma with a specific genetic mutation and its implications for treatment.
Case study of an individual with a rare subglottic adenoid cystic carcinoma
Molecular profiling to identify genetic mutations
Total laryngectomy followed by adjuvant radiotherapy
The patient demonstrated 5-year local control despite advanced disease
Identified a novel SMARCA4 loss-of-function mutation
Molecular profiling indicated a non-MYB-driven subtype

Abstract

This report describes a rare primary subglottic adenoid cystic carcinoma harboring a SMARCA4 loss-of-function mutation, a molecular driver not previously reported in this anatomical site. Despite presenting with locally advanced pT4a disease and early pulmonary metastasis, the patient achieved 5-year local control following total laryngectomy and adjuvant radiotherapy. The findings suggest that molecular profiling can identify non-MYB-driven subtypes and guide individualized management for atypical laryngeal malignancies.

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