PDF(Pubmed)
Abstract：
BACKGROUND: Aggressive fibromatosis (AF) is a fibroblastic/myofibroblastic tumor known for its locally aggressive properties. Intra-abdominal AF primarily occurs in the small intestine mesentery, ileocolic mesocolon, omentum, retroperitoneum, and pelvis, and rarely originates from the intestinal wall. Here, we report a rare case of small bowel obstruction caused by duodenum-derived AF with β-catenin (CTNNB1) T41A mutation.
METHODS: A 35-year-old male had a 4-month history of abdominal pain, nausea, and vomiting, which gradually worsened over time.
METHODS: Based on the results of CT examination, histopathology and Sanger sequencing, the patient was diagnosed with small bowel obstruction caused by duodenum-derived AF.
METHODS: Due to the extensive adhesion between the tumor and surrounding tissue, it is extremely challenging to completely remove the tumor through surgical resection with negative margins in this case. In order not to damage the function of surrounding vital organs, gastrojejunostomy was performed to relieve the symptoms of small bowel obstruction.
RESULTS: The patient experienced a successful recovery. It is important to note that this patient is still at risk of local recurrence and requires regular follow-up.
CONCLUSIONS: The best treatment should be taken based on the individual patient to relieve symptoms and improve quality of life. Moreover, histopathology plays a crucial role in diagnosing and differentiating duodenum-derived AF. The detection of mutations in exon 3 of the CTNNB1 has become strong evidence for diagnosing duodenum-derived AF.
METHODS: A 35-year-old male had a 4-month history of abdominal pain, nausea, and vomiting, which gradually worsened over time.
METHODS: Based on the results of CT examination, histopathology and Sanger sequencing, the patient was diagnosed with small bowel obstruction caused by duodenum-derived AF.
METHODS: Due to the extensive adhesion between the tumor and surrounding tissue, it is extremely challenging to completely remove the tumor through surgical resection with negative margins in this case. In order not to damage the function of surrounding vital organs, gastrojejunostomy was performed to relieve the symptoms of small bowel obstruction.
RESULTS: The patient experienced a successful recovery. It is important to note that this patient is still at risk of local recurrence and requires regular follow-up.
CONCLUSIONS: The best treatment should be taken based on the individual patient to relieve symptoms and improve quality of life. Moreover, histopathology plays a crucial role in diagnosing and differentiating duodenum-derived AF. The detection of mutations in exon 3 of the CTNNB1 has become strong evidence for diagnosing duodenum-derived AF.
摘要：
背景：侵袭性纤维瘤病（AF）是一种以其局部侵袭性特性而闻名的成纤维细胞/肌纤维母细胞瘤。腹内房颤主要发生在小肠系膜,回肠结肠系膜,网膜,腹膜后,和骨盆,很少起源于肠壁。这里,我们报道了一例由十二指肠源性房颤伴β-catenin(CTNNB1)T41A突变引起的罕见小肠梗阻病例.
方法：35岁男性有4个月的腹痛史，恶心,呕吐,随着时间的推移逐渐恶化。
方法：根据CT检查结果，组织病理学和Sanger测序，患者被诊断为十二指肠源性房颤引起的小肠梗阻。
方法：由于肿瘤与周围组织之间的广泛粘附，在这种情况下，通过手术切除阴性切缘完全切除肿瘤是非常具有挑战性的。为了不损害周围重要器官的功能，胃空肠造口术是为了缓解小肠梗阻的症状。
结果：患者成功康复。值得注意的是，该患者仍有局部复发的风险，需要定期随访。
结论：应根据患者个体情况采取最佳治疗措施，以缓解症状，提高生活质量。此外，组织病理学在十二指肠源性房颤的诊断和鉴别中起着至关重要的作用。检测CTNNB1外显子3的突变已成为诊断十二指肠源性AF的有力证据。
方法：35岁男性有4个月的腹痛史，恶心,呕吐,随着时间的推移逐渐恶化。
方法：根据CT检查结果，组织病理学和Sanger测序，患者被诊断为十二指肠源性房颤引起的小肠梗阻。
方法：由于肿瘤与周围组织之间的广泛粘附，在这种情况下，通过手术切除阴性切缘完全切除肿瘤是非常具有挑战性的。为了不损害周围重要器官的功能，胃空肠造口术是为了缓解小肠梗阻的症状。
结果：患者成功康复。值得注意的是，该患者仍有局部复发的风险，需要定期随访。
结论：应根据患者个体情况采取最佳治疗措施，以缓解症状，提高生活质量。此外，组织病理学在十二指肠源性房颤的诊断和鉴别中起着至关重要的作用。检测CTNNB1外显子3的突变已成为诊断十二指肠源性AF的有力证据。
