Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report
Abstract Background SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare and highly malignant primary tumor characterized by the loss of SMARCA4 expression. Despite advancements in oncology, diagnosing and treating SMARCA4-UT remain significant clinical challenges. Case demonstration A 67...
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| Language: | English |
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BMC
2024-12-01
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| Series: | World Journal of Surgical Oncology |
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| Online Access: | https://doi.org/10.1186/s12957-024-03619-8 |
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| author | Shuai Luo Xiaoxue Tian Ting Xu Jinjing Wang |
| author_facet | Shuai Luo Xiaoxue Tian Ting Xu Jinjing Wang |
| author_sort | Shuai Luo |
| collection | DOAJ |
| description | Abstract Background SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare and highly malignant primary tumor characterized by the loss of SMARCA4 expression. Despite advancements in oncology, diagnosing and treating SMARCA4-UT remain significant clinical challenges. Case demonstration A 67-year-old male with a history of smoking presented to the hospital with complaints of abdominal distention and pain lasting for more than four days. Abdominal computed tomography (CT) revealed a high-density mass measuring approximately 41 × 37 mm in the right lower quadrant. Additionally, chest CT identified a high-density mass measuring 63 × 48 mm in the upper lobe of the right lung. The patient underwent partial small bowel resection, and postoperative pathological examination confirmed a diagnosis of SMARCA4-UT originating in the small mesentery. Unfortunately, the patient succumbed to respiratory failure 21 days after the diagnosis. Conclusion SMARCA4-UT is an exceedingly rare and aggressive undifferentiated tumor. This case highlights a presentation of SMARCA4-UT with abdominal pain and distention as initial symptoms. Clinicians should consider SMARCA4-UT in middle-aged or elderly male patients with a history of smoking who present with large masses. Comprehensive chest imaging is essential to exclude the thoracic primary disease in such cases. |
| format | Article |
| id | doaj-art-9802e6b891b749f7b73d03ee74f57917 |
| institution | Kabale University |
| issn | 1477-7819 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
| record_format | Article |
| series | World Journal of Surgical Oncology |
| spelling | doaj-art-9802e6b891b749f7b73d03ee74f579172024-12-22T12:29:33ZengBMCWorld Journal of Surgical Oncology1477-78192024-12-012211610.1186/s12957-024-03619-8Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case reportShuai Luo0Xiaoxue Tian1Ting Xu2Jinjing Wang3Department of Pathology, Affiliated Hospital of Zunyi Medical UniversityDepartment of Pathology, Affiliated Hospital of Zunyi Medical UniversityDepartment of Pathology, Affiliated Hospital of Zunyi Medical UniversityDepartment of Pathology, Affiliated Hospital of Zunyi Medical UniversityAbstract Background SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare and highly malignant primary tumor characterized by the loss of SMARCA4 expression. Despite advancements in oncology, diagnosing and treating SMARCA4-UT remain significant clinical challenges. Case demonstration A 67-year-old male with a history of smoking presented to the hospital with complaints of abdominal distention and pain lasting for more than four days. Abdominal computed tomography (CT) revealed a high-density mass measuring approximately 41 × 37 mm in the right lower quadrant. Additionally, chest CT identified a high-density mass measuring 63 × 48 mm in the upper lobe of the right lung. The patient underwent partial small bowel resection, and postoperative pathological examination confirmed a diagnosis of SMARCA4-UT originating in the small mesentery. Unfortunately, the patient succumbed to respiratory failure 21 days after the diagnosis. Conclusion SMARCA4-UT is an exceedingly rare and aggressive undifferentiated tumor. This case highlights a presentation of SMARCA4-UT with abdominal pain and distention as initial symptoms. Clinicians should consider SMARCA4-UT in middle-aged or elderly male patients with a history of smoking who present with large masses. Comprehensive chest imaging is essential to exclude the thoracic primary disease in such cases.https://doi.org/10.1186/s12957-024-03619-8SMARCA4SMARCA4-deficient undifferentiated tumorsIntestineGastrointestinal symptomsDiagnosis |
| spellingShingle | Shuai Luo Xiaoxue Tian Ting Xu Jinjing Wang Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report World Journal of Surgical Oncology SMARCA4 SMARCA4-deficient undifferentiated tumors Intestine Gastrointestinal symptoms Diagnosis |
| title | Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report |
| title_full | Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report |
| title_fullStr | Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report |
| title_full_unstemmed | Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report |
| title_short | Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report |
| title_sort | metastatic smarca4 deficient undifferentiated tumor in the small mesentery case report |
| topic | SMARCA4 SMARCA4-deficient undifferentiated tumors Intestine Gastrointestinal symptoms Diagnosis |
| url | https://doi.org/10.1186/s12957-024-03619-8 |
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