Department of General Surgery, Central Hospital of Shenyang Sujiatun, Shenyang, China.
Department of Orthopedics Surgery, Central Hospital Affiliated to Shenyang Medical College, Shenyang, China.
Medicine (Baltimore). 2024 Jul 26;103(30):e39089. doi: 10.1097/MD.0000000000039089.
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.
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.
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.
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.
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.
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.
硬纤维瘤（desmoid tumor，DT）是一种罕见的软组织肿瘤，可发生于身体任何部位。腹壁 DT 因其独特的临床表现、治疗方式以及缺乏用于诊断和复发预测的生物标志物而带来独特的临床挑战，使临床决策变得异常复杂。
一位 32 岁女性，因腹壁 DT 行腹直肌整块切除术联合补片修补术，成功缓解了腹部不适，术后 6 个月随访时未见复发。
根据影像学检查和病史，患者接受了根治性手术切除。组织病理学显示，肿瘤细胞主要由增殖性成纤维细胞组成，伴有局部胶原沉积。病变细胞β-连环蛋白染色阳性，诊断为 DT。
患者接受了根治性手术切除和补片修补术以修复腹壁缺损。病理检查证实切缘阴性，达到了 R0 切除，基因检测显示 CTNNB1 存在 T41A 突变。因此，术后未进行其他辅助治疗。
患者术后 3 天切口愈合良好出院。6 个月后复查时，未发现复发或其他不良并发症。
腹壁 DT 的治疗需要多学科团队讨论制定个体化方案。基因检测在识别腹壁 DT 的新型生物标志物方面具有重要作用。我们再次证实 CTNNB1 突变在诊断和进展中的重要性。此外，CCND1、CYP3A4、SLIT1、RRM1、STIM1、ESR2、UGT1A1 等基因也可能与腹壁 DT 的进展密切相关。未来的研究应深入探讨并系统评估这些基因突变对腹壁 DT 治疗选择和预后的精确影响，以便更好地指导患者管理和治疗决策。
