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Updated: Jul 17, 2025
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Diagnosis of a SMARCA4-deficient undifferentiated tumor using multigene panel testing: A case report
Yoshiaki Marumo1,2, Takashi Yoshida1, Kenji Ina1,3
1Department of Clinical Oncology Nagoya Memorial Hospital Nagoya Japan.
Key Clinical Message:
SMARCA4-deficient thoracic carcinoma is a malignant tumor that may present as cancer of unknown primary. This tumor is refractory and requires a novel approach. In addition to identifying therapeutic targets, multigene panel testing can reveal novel genetic mutations, leading to more pathologically relevant diagnoses and appropriate tumor care.
Abstract:
SMARCA4-deficient undifferentiated tumors are characterized by SMARCA4 inactivation. We present a case of a 74-year-old man with an undifferentiated tumor and a novel SMARCA4 mutation detected using multigene panel testing. The tumor was multiagent and refractory to three chemotherapy lines. The test results helped guide appropriate medical management.
Insights
SMARCA4-deficient thoracic carcinoma, a rare cancer, often presents as unknown primary and is resistant to treatment. Multigene panel testing identified a novel SMARCA4 mutation, guiding personalized medical management for this challenging diagnosis.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- SMARCA4-deficient thoracic carcinoma is a rare and aggressive malignancy.
- This cancer of unknown primary is often refractory to standard treatments.
- SMARCA4 inactivation is a key characteristic of these tumors.
