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A clinicopathological and molecular analysis of 200 traditional serrated adenomas.

200例传统锯齿状腺瘤临床病理学和分子分析

Bettington ML,Walker NI,Rosty C,Brown IS,Clouston AD,McKeone DM,Pearson SA,Klein K,Leggett BA,Whitehall VLj

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

传统锯齿状腺瘤是不常见的大肠锯齿状息肉。这些息肉的临床病理学特征和分子促使我们进一步研究。我们回顾性收集了200例普通和进展传统锯齿状腺瘤,并对所有病例进行了BRAF和KRAS突变谱、CpG岛甲基化表现分析和7个抗体(MLH1, β-catenin, p53, p16, Ki67, CK7和CK20)的免疫组化分析。结果显示病人平均年龄为64岁,50%为女性。息肉中,71%位于远端。进展性组织学改变(明显异型增生或癌)见于19%病例。BRAF突变为67%,KRAS突变为22%。与KRAS突变的传统锯齿状腺瘤相比,BRAF突变者较常见于近端结肠(39% versus 2%; P≤0.0001),独特地伴有癌前病变(57% versus 0%; P≤0.0001)和较常有CpG岛甲基化表型 (60% versus 16%; P≤0.0001)。进展性传统锯齿状腺瘤中,97%保留MLH1表达,55%有p53强阳性表达,40%显示β-catenin核阳性。p16表达缺失见于55%BRAF突变传统锯齿状腺瘤的进展性区域,而KRAS突变或KRAS/KRAS野生型传统锯齿状腺瘤仅为10%。BRAF和KRAS突变的传统锯齿状腺瘤形态学上具有相关性,但生物学行为和分子特征明显不同。绝大多数传统锯齿状腺瘤保留了错配修复酶功能,显示为微卫星稳定表型。恶性进展通过TP53突变和WnT通路活化而发生,而与突变状态无关。然而,CDKN2A几乎在所有BRAF突变的锯齿状腺瘤的进展性区域沉默。这样。BRAF突变的传统锯齿状腺瘤代表着侵袭性BRAF突变、微卫星稳定亚型结直肠癌的一个重要前驱病变。
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