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Ref Type
PMID (36969551)
Authors Sheng J, Han W, Pan H
Title Thoracic SMARCA4-Deficient Undifferentiated Tumor With ALK Fusion Treated With Alectinib Achieved Remarkable Tumor Regression: Case Report.
Abstract Text 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.


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
EML4 - ALK Smarca4-deficient sarcoma of thorax predicted - sensitive Alectinib Case Reports/Case Series Actionable In a clinical case study, Alecensa (alectinib) treatment resulted in a partial response after 6 weeks and a complete remission after 9 months of therapy in a patient with SMARCA4-deficient undifferentiated tumor of the thorax harboring EML4-ALK (e13:e20) (PMID: 36969551). 36969551