Li Can, Dong Lingdan, Zhu Li, Guan Wenbin
Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Yangpu District, Shanghai, 200092, China.
Department of Pathology, Maternal and Child health Hospital of Hubei Province, Wuhan, China.
World J Surg Oncol. 2025 Jan 29;23(1):30. doi: 10.1186/s12957-025-03675-8.
This study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-catenin signaling pathway harboring the mutation of CTNNB1 gene 3 exon.
Eighty tumor patients, including 26 BAs, 30 DFs, and 24 SPNs, were analyzed. Immunohistochemical staining was identified positive (nuclear staining of LEF1 and β-catenin in > 50% of tumor cells). The diagnostic rate of LEF1 alone, β-catenin alone, and their combination were compared for each tumor type and all patients.
Compared to β-catenin, when LEF1 alone was used for diagnosis, the diagnostic rate increased by 46.16% for BA, 16.67% for SPN, and 11.25% for all patients, but decreased by 23.34% for DF. The combined use of β-catenin and LEF1 significantly increased the diagnostic ratio in BA (46.16%), SPN (16.67%), and all patients (21.25%), but only marginally in DF (3.33%). In terms of all WNT pathway tumors with CTNNB1 gene mutation encompassed by our study, statistical analysis revealed no significant difference between LEF1 alone and β-catenin alone. However, their combined application was highly significant (P = 0.001) .
While β-catenin is commonly used as a marker for WNT pathway tumors, its variable expression and localization can be challenging for diagnosis. Our study emphasizes the importance of LEF1 as a complementary marker to β-catenin in diagnosing BA, DF, SPN, and other WNT pathway tumors activated by exon 3 CTNNB1 gene mutation. The combined use of LEF1 and β-catenin enhances diagnostic accuracy and may help the identification of these tumor types.
本研究旨在比较淋巴细胞增强因子1（LEF1）和β-连环蛋白在基底细胞腺瘤（BA）、韧带样型纤维瘤病（DF）和胰腺实性假乳头状瘤（SPN）中的表达，以评估它们在与携带CTNNB1基因第3外显子突变的WNT/β-连环蛋白信号通路相关肿瘤中的诊断效用。
分析了80例肿瘤患者，包括26例BA、30例DF和24例SPN。免疫组织化学染色鉴定为阳性（LEF1和β-连环蛋白在>50%的肿瘤细胞中呈核染色）。比较了单独使用LEF1、单独使用β-连环蛋白及其联合使用对每种肿瘤类型和所有患者的诊断率。
与β-连环蛋白相比，单独使用LEF1进行诊断时，BA的诊断率提高了46.16%，SPN提高了16.67%，所有患者提高了11.25%，但DF降低了23.34%。β-连环蛋白和LEF1联合使用显著提高了BA（46.16%）、SPN（16.67%）和所有患者（21.25%）的诊断率，但DF仅略有提高（3.33%）。就本研究涵盖的所有具有CTNNB1基因突变的WNT通路肿瘤而言，统计学分析显示单独使用LEF1和单独使用β-连环蛋白之间无显著差异。然而，它们的联合应用具有高度显著性（P = 0.001）。
虽然β-连环蛋白通常用作WNT通路肿瘤的标志物，但其可变的表达和定位可能给诊断带来挑战。我们的研究强调了LEF1作为β-连环蛋白的补充标志物在诊断BA、DF、SPN和其他由CTNNB1基因第3外显子突变激活的WNT通路肿瘤中的重要性。LEF1和β-连环蛋白联合使用可提高诊断准确性，并可能有助于识别这些肿瘤类型。
