Bettington ML,Walker NI,Rosty C,Brown IS,Clouston AD,McKeone DM,Pearson SA,Klein K,Leggett BA,Whitehall VL
Abstract
The traditional serrated adenoma is the least common colorectal serrated polyp. The clinicopathological features and molecular drivers of these polyps require further investigation. We have prospectively collected a cohort of 200 ordinary and advanced traditional serrated adenomas and performed BRAF and KRAS mutational profiling, CpG island methylator phenotype analysis, and immunohistochemistry for a panel of 7 antibodies (MLH1, β-catenin, p53, p16, Ki67, CK7, and CK20) on all cases. The mean age of the patients was 64 years and 50% were female. Of the polyps, 71% were distal. Advanced histology (overt dysplasia or carcinoma) was present in 19% of cases. BRAF mutation was present in 67% and KRAS mutation in 22%. BRAF mutant traditional serrated adenomas were more frequently proximal (39% versus 2%; P≤0.0001), were exclusively associated with a precursor polyp (57% versus 0%; P≤0.0001), and were more frequently CpG island methylator phenotype high (60% versus 16%; P≤0.0001) than KRAS mutant traditional serrated adenomas. Advanced traditional serrated adenomas retained MLH1 expression in 97%, showed strong p53 staining in 55%, and nuclear β-catenin staining in 40%. P16 staining was lost in the advanced areas of 55% of BRAF mutant traditional serrated adenomas compared with 10% of the advanced areas of KRAS mutant or BRAF/KRAS wild-type traditional serrated adenomas. BRAF and KRAS mutant traditional serrated adenomas are morphologically related but biologically disparate polyps with distinctive clinicopathological and molecular features. The overwhelming majority of traditional serrated adenomas retain mismatch repair enzyme function indicating a microsatellite-stable phenotype. Malignant progression occurs via TP53 mutation and Wnt pathway activation regardless of mutation status. However, CDKN2A (encoding the p16 protein) is silenced nearly exclusively in the advanced areas of the BRAF mutant traditional serrated adenomas. Thus, the BRAF mutant traditional serrated adenoma represents an important precursor of the aggressive BRAF mutant, microsatellite-stable subtype of colorectal carcinoma.
摘要
传统锯齿状腺瘤是最少见的结直肠锯齿状息肉。这些息肉的临床病理学特征和分子机制需深入研究。我们前瞻性的收集了200例普通的和高级别传统锯齿状腺瘤,对所有病例进行BRAF和KRAS突变检测、CpG岛甲基化表型分析和一组7种抗体(MLH1,β-catenin,p53,p16,Ki67,CK7和CK20)的免疫组织化学检测。患者平均年龄64岁,50%为女性。71%的息肉位于远端。19%的病例出现高级别组织学特点(明显的异型性或癌)。67%出现BRAF突变,22%出现KRAS突变。BRAF突变传统锯齿状腺瘤更常见于近端(39% vs 2%;p≤0.0001),总是与前驱息肉相关(57% vs 0%;p≤0.0001),并比KRAS突变传统锯齿状腺瘤更常见CpG岛高甲基化表型(60% vs 16%;p≤0.0001)。高级别传统锯齿状腺瘤97%保留MLH1表达,55%呈强p53染色,40%显示核β-catenin着色。55%BRAF突变传统锯齿状腺瘤高级别区域p16染色丢失,而KRAS突变型高级别区域或BRAF/KRAS野生型传统锯齿状腺瘤仅10%丢失。BRAF和KRAS突变传统锯齿状腺瘤为形态学相关、但生物学上不同的息肉,具有不同的临床病理学和分子特征。绝大多数传统锯齿状腺瘤保留错配修复酶功能,表明微卫星稳定表型。通过TP53突变和Wnt通路激活发生恶性进展,与突变状态无关。但是,BRAF突变传统锯齿状腺瘤高级别区域CDKN2A(编码p16蛋白)几乎完全沉默。因此,BRAF突变传统锯齿状腺瘤代表侵袭性BRAF突变、微卫星稳定型结直肠癌的一种重要的前驱病变。
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