Small Intestine Metastasis Leads to the Diagnosis of Thoracic SMARCA4-Deficient Undifferentiated Tumor: A Case Report.

Autor:	Sanai R; Department of Respiratory Medicine, Fukuoka University Hospital, Fukuoka, JPN., Yanagihara T; Department of Respiratory Medicine, Fukuoka University Hospital, Fukuoka, JPN., Ikeda T; Department of Respiratory Medicine, Fukuoka University Hospital, Fukuoka, JPN., Koga K; Department of Pathology, Fukuoka University School of Medicine, Fukuoka, JPN., Shundo Y; Department of Respiratory Medicine, Fukuoka University Hospital, Fukuoka, JPN., Hamada N; Department of Respiratory Medicine, Fukuoka University Hospital, Fukuoka, JPN., Ebi N; Department of Respiratory Medicine, Fukuoka University Hospital, Fukuoka, JPN., Inoue H; Department of Respiratory Medicine, Fukuoka University Hospital, Fukuoka, JPN., Hamada Y; Department of Pathology, Fukuoka University School of Medicine, Fukuoka, JPN., Hamasaki M; Department of Pathology, Fukuoka University School of Medicine, Fukuoka, JPN., Fujita M; Department of Respiratory Medicine, Fukuoka University School of Medicine, Fukuoka, JPN.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Sep 01; Vol. 16 (9), pp. e68364. Date of Electronic Publication: 2024 Sep 01 (Print Publication: 2024).
DOI:	10.7759/cureus.68364
Abstrakt:	SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare and aggressive malignancy characterized by the loss of SMARCA4 protein expression. It typically affects middle-aged male smokers and has a poor prognosis due to its rapid progression and metastatic potential. This case report presents a 73-year-old male diagnosed with a thoracic SMARCA4-UT. Initially diagnosed with stage IVA non-small cell lung cancer, the patient underwent brain tumor resection, radiation, and chemo-immunotherapy. Treatment was halted due to immune-related adverse events. During treatment, a progressing small intestine tumor was discovered, resected, and identified as SMARCA4-UT metastasis through immunohistochemistry, leading to a revised diagnosis of SMARCA4-UT with brain and small intestine metastases. The patient received multimodal treatment, including surgery, radiation, and chemo-immunotherapy. The small intestine metastasis showed resistance to systemic therapy, necessitating surgical intervention. This case highlights the diagnostic challenges and treatment complexities of SMARCA4-UT, emphasizing the importance of comprehensive diagnostic workup and personalized treatment strategies. It demonstrates the potential efficacy of combining systemic therapy with targeted interventions for oligoprogressive disease. The patient's progression-free survival at approximately two years post-diagnosis underscores the need for further research into optimal management strategies for this rare tumor. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Sanai et al.)
Databáze:	MEDLINE
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