目的：分析儿童侵袭性纤维瘤病β-catenin 的表达和突变状态，并探讨其与肿瘤复发的相关性。方法搜集该院2007年6月—2013年5月期间手术留取侵袭性纤维瘤标本，应用免疫组化法对32例侵袭性纤维瘤病患儿（21例复发和11原发性发病例）和15例对照组进行分析。在β-catenin 的3号外显子的体细胞点突变进行聚合酶链反应产物的测序。结果在侵袭性纤维瘤病样本中检测β-catenin 的核表达为94％（30／32），而对照组为13％（2／15）（P ＜0．001）。在侵袭性纤维瘤病样本中B 连环蛋白基因3号外显子突变率为78％（25／32）（19／21复发病例，6／11原发发病例；P ＝0．032）。在复发病例主要发生突变的密码子是45（S45F），而原发病例中41号密码子（T41A）是最常见的突变（P ＝0．002）。结论在β-catenin 基因中，3号外显子的改变，特别是 S45F 突变，可以作为儿童患者复发的危险因素和可能被用作预后因素。%Objective To analyze the expression and mutation status of β-catenin in pediatric aggressive fibromatosis and explore the relation with tumor recurrence.Method Beta-catenin expression was analyzed by immunohistochemistry in 32 samples from pediatric patients with aggressive fibromatosis (21 recurrent cases and 11 primary -onset cases)and 15 control subjects.Somatic point mutations in β-catenin exon 3 were identified by sequencing of polymerase chain reaction products.Results Nuclear expression of β-catenin was detected in 94% (30 /32)of aggressive fibromatosis samples and 13% (2 /15)of control samples (P =0.001).Mutations in ex-on 3 of the β-catenin gene were identified in 78% (25 /32)of aggressive fibromatosis samples (19 /21 recurrent cases,6 /11 primary-onset cases;P =0.032).The primary mutation in the recurrent cases occurred at codon 45 (S45F),while codon 41 (T41A)was most frequently mutated in the primary -onset cases (P =0.002).Conclusion Mutations in exon 3 of the β-catenin gene,particular-ly the S45F mutation,may represent risk factors for recurrence in pediatric patients and could potentially be used as prognostic factors.
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