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An unusual cause of hemorrhagic shock in a 14-year-old child
Chang'en Liu1, Shuhan Yu2, Yaohui Wang3
1Gastroenterology and Hepatology, Tianjin Third Central Hospital. Tianjin Key Laboratory, China.
Insights
A rare TFE3-associated epithelioid tumor was diagnosed in a 14-year-old girl presenting with anemia and watery stools. Endoscopic full-thickness resection successfully removed the benign submucosal lesion.
Area of Science:
- Oncology
- Gastroenterology
- Pathology
Background:
- Submucosal tumors (SMTs) of the colon can present with varied symptoms, including anemia and altered bowel habits.
- Accurate diagnosis of SMTs is crucial for appropriate management, especially in pediatric patients.
- TFE3-associated tumors are rare and typically occur in younger individuals, often presenting as SMTs.
Purpose of the Study:
- To report a case of a TFE3-associated epithelioid tumor in the descending colon of a pediatric patient.
- To highlight the diagnostic challenges and successful management of this rare entity.
- To emphasize the importance of immunohistochemistry in diagnosing SMTs.
Main Methods:
- A 14-year-old girl with anemia and watery stools underwent colonoscopy, computed tomography (CT), and endoscopic ultrasonography (EUS).
- The patient was treated with endoscopic full-thickness resection (EFR) for the identified descending colon SMT.
- Tumor histopathology and immunohistochemical analysis (HMB-45, TFE3, SMA) were performed.
Main Results:
- Imaging revealed a 25*25mm SMT in the descending colon without signs of malignancy.
- EUS confirmed a submucosal origin with close relation to the muscularis propria.
- Histopathology and positive HMB-45 and TFE3 staining confirmed a TFE3-associated epithelioid tumor, while SMA was negative.
Conclusions:
- TFE3-associated epithelioid tumors can present as colonic SMTs in pediatric patients.
- EFR is a viable and effective treatment option for these benign submucosal lesions.
- Immunohistochemical markers like TFE3 are essential for accurate diagnosis.
Abstract:
A 14-year-old girl underwent colonoscopy due to repeated flesh-washing watery stools and dull pain around the umbilicus for 10 days. She felt tired for 1 month with no other significant discomfort. The hemoglobin (Hb) is 66g/L, and the red blood cell (RBC) count was 3.24*10^12/L in routine blood tests at admission. Abdominal computed tomography (CT) images showed submucosal tumor (SMT) in the descending colon. The abdominal computed tomography (CT) images showed submucosal tumor (SMT) in the descending colon. The SMT, supplied by the superior and inferior mesenteric arteries, showed significant enhancement at the arterial stage. It did not reveal any bowel wall thickening, enlarged lymph nodes, or ascites, suggesting that the SMT was probably a benign submucosal lesion. The submucosal tumor lesion measured in size 25*25mm located at the descending colon. Endoscopic ultrasonography imaging showed a mixed hyperechoic with a regular edge, originating from the submucosa and closely related to the muscularis propria. There were no evident features of malignancy or metastasis. Endoscopic full-thickness resection (EFR) was carried out for en bloc resection. The tumor was located in the submucosa with a clear boundary and intact capsule. The tumor cells exhibited acinar and nested patterns with abundant thin-walled blood vessels. These tumor cells were epithelioid, displaying abundant clear or eosinophilic cytoplasm. The nuclei were round or oval. Immunohistochemical analysis revealed that the tumor cells showed positive staining for HMB-45 and TFE3, but were negative for SMA.
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