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Abstract：
BACKGROUND: Desmoid tumor (DT) is a rare soft tissue tumor that can occur anywhere in the body. Abdominal wall DT presents unique clinical challenges due to its distinctive manifestations, treatment modalities, and the lack of biomarkers for diagnosis and recurrence prediction, making clinical decisions exceedingly complex.
METHODS: A 32-year-old female who underwent radical resection combined with patch reinforcement for rectus abdominis DT, successfully alleviating abdominal discomfort, with no recurrence during the 6-month follow-up after surgery.
METHODS: Based on the imaging studies and medical history, the patient underwent radical surgical resection. Histopathology reveals that the tumor cells predominantly composed of proliferative fibroblasts with local collagen deposition. The lesional cells show positive staining for β-catenin, indicating a diagnosis of DT.
METHODS: The patient underwent radical surgical resection with patch reinforcement to repair the abdominal wall defect. Pathology confirmed negative margins, achieving an R0 resection, and genetic testing identified a T41A mutation in CTNNB1. Consequently, no additional adjuvant therapy was administered postoperatively.
RESULTS: The patient was discharged with the incision healing well after 3 days postoperation. Upon reexamination 6 months later, no recurrence or adverse complications were observed.
CONCLUSIONS: Abdominal wall DT treatment requires personalized plans from multidisciplinary team discussions. Genetic testing plays a crucial role in identifying novel biomarkers for abdominal wall DT. We have once again demonstrated the significant clinical significance of CTNNB1 mutations in the diagnosis and progression of abdominal wall DT. Additionally, genes such as CCND1, CYP3A4, SLIT1, RRM1, STIM1, ESR2, UGT1A1, among others, may also be closely associated with the progression of abdominal wall DT. Future research should delve deeper into and systematically evaluate the precise impact of these genetic mutations on treatment selection and prognosis for abdominal wall DT, in order to better guide patient management and treatment decisions.
METHODS: A 32-year-old female who underwent radical resection combined with patch reinforcement for rectus abdominis DT, successfully alleviating abdominal discomfort, with no recurrence during the 6-month follow-up after surgery.
METHODS: Based on the imaging studies and medical history, the patient underwent radical surgical resection. Histopathology reveals that the tumor cells predominantly composed of proliferative fibroblasts with local collagen deposition. The lesional cells show positive staining for β-catenin, indicating a diagnosis of DT.
METHODS: The patient underwent radical surgical resection with patch reinforcement to repair the abdominal wall defect. Pathology confirmed negative margins, achieving an R0 resection, and genetic testing identified a T41A mutation in CTNNB1. Consequently, no additional adjuvant therapy was administered postoperatively.
RESULTS: The patient was discharged with the incision healing well after 3 days postoperation. Upon reexamination 6 months later, no recurrence or adverse complications were observed.
CONCLUSIONS: Abdominal wall DT treatment requires personalized plans from multidisciplinary team discussions. Genetic testing plays a crucial role in identifying novel biomarkers for abdominal wall DT. We have once again demonstrated the significant clinical significance of CTNNB1 mutations in the diagnosis and progression of abdominal wall DT. Additionally, genes such as CCND1, CYP3A4, SLIT1, RRM1, STIM1, ESR2, UGT1A1, among others, may also be closely associated with the progression of abdominal wall DT. Future research should delve deeper into and systematically evaluate the precise impact of these genetic mutations on treatment selection and prognosis for abdominal wall DT, in order to better guide patient management and treatment decisions.
摘要：
背景：纤维瘤（DT）是一种罕见的软组织肿瘤，可发生在体内任何地方。由于其独特的表现，腹壁DT提出了独特的临床挑战，治疗方式，缺乏用于诊断和复发预测的生物标志物，使临床决策非常复杂。
方法：一名32岁女性，接受了根治性切除联合补片加固治疗腹直肌DT，成功缓解腹部不适，术后6个月随访期间无复发。
方法：根据影像学研究和病史，患者接受了根治性手术切除。组织病理学表明，肿瘤细胞主要由增殖成纤维细胞组成，局部胶原沉积。病变细胞显示β-catenin阳性染色，指示DT的诊断。
方法：患者行根治性手术切除结合补片加固修复腹壁缺损。病理证实切缘阴性，实现R0切除，基因检测在CTNNB1中发现了一个T41A突变。因此,术后未给予额外的辅助治疗.
结果：患者术后3天切口愈合良好，出院。6个月后复查,未观察到复发或不良并发症。
结论：腹壁DT治疗需要多学科团队讨论的个性化计划。基因检测在确定腹壁DT的新型生物标志物中起着至关重要的作用。我们再次证明了CTNNB1突变在腹壁DT的诊断和进展中的重要临床意义。此外,基因如CCND1，CYP3A4，SLIT1，RRM1，STIM1，ESR2，UGT1A1等，也可能与腹壁DT的进展密切相关。未来的研究应该深入研究并系统地评估这些基因突变对腹壁DT的治疗选择和预后的精确影响。从而更好地指导患者管理和治疗决策。
方法：一名32岁女性，接受了根治性切除联合补片加固治疗腹直肌DT，成功缓解腹部不适，术后6个月随访期间无复发。
方法：根据影像学研究和病史，患者接受了根治性手术切除。组织病理学表明，肿瘤细胞主要由增殖成纤维细胞组成，局部胶原沉积。病变细胞显示β-catenin阳性染色，指示DT的诊断。
方法：患者行根治性手术切除结合补片加固修复腹壁缺损。病理证实切缘阴性，实现R0切除，基因检测在CTNNB1中发现了一个T41A突变。因此,术后未给予额外的辅助治疗.
结果：患者术后3天切口愈合良好，出院。6个月后复查,未观察到复发或不良并发症。
结论：腹壁DT治疗需要多学科团队讨论的个性化计划。基因检测在确定腹壁DT的新型生物标志物中起着至关重要的作用。我们再次证明了CTNNB1突变在腹壁DT的诊断和进展中的重要临床意义。此外,基因如CCND1，CYP3A4，SLIT1，RRM1，STIM1，ESR2，UGT1A1等，也可能与腹壁DT的进展密切相关。未来的研究应该深入研究并系统地评估这些基因突变对腹壁DT的治疗选择和预后的精确影响。从而更好地指导患者管理和治疗决策。
