Is immunohistochemical staining for β-catenin the definitive pathological diagnostic tool for desmoid-type fibromatosis? A multi-institutional study
Is immunohistochemical staining for β-catenin the definitive pathological diagnostic tool for desmoid-type fibromatosis? A multi-institutional study
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DOI：
10.1016/j.humpath.2018.09.018
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发表时间：
2019-02-01
期刊：
影响因子：
3.3
通讯作者：
Ishiguro, Naoki
中科院分区：
文献类型：
--
作者：
Koike, Hiroshi;Nishida, Yoshihiro;Ishiguro, Naoki
使用抗 β-连环蛋白抗体进行免疫组织化学染色已被用作硬纤维瘤型纤维瘤 (DF) 的诊断工具。近年来，特异性基因突变（CTNNB1）分析也被报道可用于 DF 的诊断；然而，CTNNB1 突变状态与 β-catenin 免疫组织化学染色模式之间的关联鲜有报道。本研究的目的是阐明 β-catenin 染色模式与 CTNNB1 突变状态和各种临床变量的关系，并探讨 β-catenin 免疫组织化学染色在诊断为 DF 的病例中的意义。 1997年至2017年间，来自日本6个机构的104例诊断为DF的病例被纳入这项研究：名古屋大学、国立癌症中心医院、新泻大学、冈山大学、九州大学和癌症研究所医院。对于所有病例，均进行了 β-连环蛋白的免疫组织化学染色和 CTNNB1 的基因突变分析。在 104 例中，87 例（84%）显示 β-catenin 核染色，95 例（91%）显示细胞质阳性染色。 S45F 病例中显示 β-连环蛋白强核染色的病例比例显着高于 T41A 或野生型病例。 T41A组中细胞质而非细胞核中强烈染色的病例比例显着高于S45F或野生型组。 17例无核免疫染色的病例中，CTNNB1突变5例（29.4%）。尽管有明确的临床和病理诊断为 DF 和/或 CTNNB1 突变阳性，但仍有不可忽视的 DF 病例出现 β-连环蛋白免疫染色阴性。 (C) 2018 Elsevier Inc. 保留所有权利。
Immunohistochemical staining with anti-beta-catenin antibody has been applied as a diagnostic tool for desmoid-type fibromatoses (DFs). In recent years, specific gene mutation (CTNNB1) analysis has also been reported to be useful for diagnosis of DF; however, the association between CTNNB1 mutation status and immunohistochemical staining pattern of beta-catenin is rarely reported. The purposes of this study are to clarify the relationship of the staining pattern of beta-catenin with the CTNNB1 mutation status and various clinical variables, and to investigate the significance of immunohistochemical staining of beta-catenin in cases diagnosed as DF. Between 1997 and 2017, 104 cases diagnosed as DF from 6 institutions in Japan were enrolled in this study: Nagoya University, National Cancer Center Hospital, Niigata University, Okayama University, Kyushu University, and Cancer Institute Hospital. For all cases, immunohistochemical staining of beta-catenin and gene mutation analysis of CTNNB1 were performed. Of 104 cases, 87 (84%) showed nuclear staining of beta-catenin, and 95 (91%) showed positive staining in the cytoplasm. The proportion of cases showing strong nuclear staining of beta-catenin was significantly higher in the cases with S45F than in those with T41A or wild type. The proportion of cases stained strongly in the cytoplasm rather than in the nucleus was significantly higher in the group of T41A than that of S45F or wild type. Among 17 cases in which nuclear immunostaining was absent, CTNNB1 mutation was observed in 5 cases (29.4%). There were unignorable cases of DF with negative beta-catenin immunostaining despite a definitive clinical and pathological diagnosis of DF and/or positive CTNNB1 mutation. (C) 2018 Elsevier Inc. All rights reserved.