Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan.
Department of Orthopaedic Surgery, Kyoto University Hospital, Kyoto, Japan.
Pathol Int. 2021 Jun;71(6):392-399. doi: 10.1111/pin.13096. Epub 2021 Mar 31.
Desmoid-type fibromatosis (DF) is a locally aggressive but non-metastatic (myo)fibroblastic neoplasm. A hallmark of the tumor is nuclear positivity for beta-catenin in immunohistochemistry due mostly to CTNNB1 mutations. However, a recent study has reported that even beta-catenin 'nuclear-negative' DFs can harbor CTNNB1 mutations and that the positive ratio of nuclear beta-catenin in DF is different among antibodies. Here, we reviewed soft tissue lesions for which the possibility of DF was considered and compared the sensitivity and specificity of nuclear beta-catenin for the diagnosis of DF among commonly used anti-beta-catenin antibodies, i.e., clone beta-catenin 1, 17C2 and 14. We analyzed 26 cases of DF, 28 cases of benign fibroblastic lesions, and 27 cases of other soft tissue tumors. The sensitivity and specificity of nuclear beta-catenin for the diagnosis of DF were different among antibodies; 54% and 98% in clone beta-catenin 1, 85% and 84% in 17C2, and 96% and 62% in 14. IHC of LEF1 showed comparable results with IHC of beta-catenin, with a sensitivity of 88% and specificity of 76%. Additionally, when beta-catenin 1 was used, DFs showed characteristic dotted cytoplasmic staining, often appearing as rings. Our results might be helpful for making a correct diagnosis of DF.
韧带样型纤维瘤病 (DF) 是一种局部侵袭性但非转移性(肌)纤维母细胞性肿瘤。该肿瘤的一个标志是免疫组化中β-连环蛋白呈核阳性,主要归因于 CTNNB1 突变。然而,最近的一项研究表明,即使是β-连环蛋白“核阴性”的 DF 也可能存在 CTNNB1 突变,并且 DF 中核β-连环蛋白的阳性率在不同的抗体中也不同。在这里,我们回顾了考虑为 DF 的软组织病变,并比较了常用抗β-连环蛋白抗体(即克隆β-连环蛋白 1、17C2 和 14)中核β-连环蛋白对 DF 诊断的敏感性和特异性。我们分析了 26 例 DF、28 例良性纤维母细胞瘤和 27 例其他软组织肿瘤。核β-连环蛋白对 DF 诊断的敏感性和特异性在不同的抗体中不同;克隆β-连环蛋白 1 的敏感性和特异性分别为 54%和 98%,17C2 的敏感性和特异性分别为 85%和 84%,14 的敏感性和特异性分别为 96%和 62%。LEF1 的 IHC 与β-连环蛋白的 IHC 具有相似的结果,其敏感性为 88%,特异性为 76%。此外,当使用β-连环蛋白 1 时,DF 显示出特征性的点状细胞质染色,通常呈环状。我们的结果可能有助于正确诊断 DF。