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Updated: Aug 5, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Thoracic SMARCA4-Deficient Undifferentiated Tumor With ALK Fusion Treated With Alectinib Achieved Remarkable Tumor
Jin Sheng1,2, Weidong Han1,2, Hongming Pan1,2
1Department of Medical Oncology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Zhejiang, People's Republic of China.
Abstract:
Recently, SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) has emerged as a distinct subset of lung cancer. Previous studies have suggested that SMARCA4-UT is often associated with smoking-related mutations, such as KRAS and STK11, rather than EGFR or ALK alterations. Nevertheless, no specific precision therapy has been identified for SMARCA4-UT. Here, we report the first case of concomitant ALK rearrangement and SMARCA4 (BRG1) deficiency in a nonsmoking female with thoracic cancer. Alectinib was given as the first-line therapy, and the patient achieved a remarkable complete response. Our case highlights the significance of ALK rearrangement identification for the precise therapeutic potential of SMARCA4-UT.
Insights
SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a lung cancer subtype. This case reveals a rare ALK rearrangement in SMARCA4-UT, leading to a complete response with alectinib therapy.
Area of Science:
- Oncology
- Genetics
- Thoracic Cancer Research
Background:
- SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is an emerging lung cancer subtype.
- SMARCA4-UT is typically associated with smoking-related mutations (e.g., KRAS, STK11), not EGFR or ALK alterations.
- Currently, no specific precision therapy exists for SMARCA4-UT.
Observation:
- A rare case of a nonsmoking female with thoracic cancer presenting with concomitant ALK rearrangement and SMARCA4 (BRG1) deficiency.
- The patient received first-line alectinib therapy.
Findings:
- Alectinib treatment resulted in a remarkable complete response in the patient.
- This case represents the first documented instance of ALK rearrangement in SMARCA4-UT.
Implications:
- Highlights the importance of identifying ALK rearrangements in SMARCA4-UT.
- Suggests potential for targeted therapy (e.g., alectinib) in specific SMARCA4-UT cases.
- Broadens understanding of the molecular landscape and therapeutic vulnerabilities in SMARCA4-UT.
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