Bundeswehr Institute of Radiobiology, Neuherbergstrasse 11, 80937, Munich, Germany,
Virchows Arch. 2014 Aug;465(2):155-63. doi: 10.1007/s00428-014-1604-8. Epub 2014 Jun 12.
KRAS/BRAF mutation testing and mismatch repair (MMR) protein immunohistochemistry have an established role in routine diagnostic evaluation of colorectal carcinoma (CRC). However, since the exact impact of these molecular characteristics on tumor morphology and behavior is still subject to research, the aim of our study was to examine associations between molecular and morphologic features that had not been analyzed in this combination before. KRAS (codons 12, 13, and 61) and BRAF (codon 600) mutation status and MMR protein expression were analyzed in a consecutive series of 117 CRC samples using DNA pyrosequencing and immunohistochemistry. Tumor cell budding, infiltration pattern, and peritumoral lymphocytic (PTL) reaction was assessed applying established criteria. Molecular and morphological findings were correlated applying chi-square and Fisher's exact test. We found KRAS or BRAF mutations in 40 and 8 % of samples, while loss of MMR protein expression was observed in 11 %. Tumor budding was significantly associated with infiltrative growth, absence of PTLs, and blood and lymph vessel infiltration. Neither KRAS nor BRAF mutations were associated with a certain growth pattern or budding intensity of CRC, but loss of MMR protein expression was found in context with BRAF mutation, expanding growth, and presence of PTLs. Our results confirm an association between loss of MMR protein expression, presence of activating BRAF mutation, expanding growth, and PTL reaction as well as between tumor budding, infiltrative growth pattern, and tumor aggressiveness; however, there was no such association between the presence of an activating KRAS or BRAF mutation and a distinct invasion pattern or tumor aggressiveness in CRC.
KRAS/BRAF 基因突变检测和错配修复(MMR)蛋白免疫组化在结直肠癌(CRC)的常规诊断评估中具有重要作用。然而,由于这些分子特征对肿瘤形态和行为的确切影响仍在研究中,我们的研究目的是检查以前未在这种组合中分析过的分子和形态特征之间的关联。我们使用 DNA 焦磷酸测序和免疫组织化学分析了 117 例连续 CRC 样本的 KRAS(密码子 12、13 和 61)和 BRAF(密码子 600)突变状态和 MMR 蛋白表达。应用既定标准评估肿瘤细胞芽生、浸润模式和肿瘤周围淋巴细胞(PTL)反应。应用卡方和 Fisher 精确检验对分子和形态学发现进行相关性分析。我们发现 40%和 8%的样本中存在 KRAS 或 BRAF 突变,而 11%的样本中存在 MMR 蛋白表达缺失。肿瘤芽生与浸润性生长、缺乏 PTL 和血管浸润显著相关。KRAS 或 BRAF 突变与 CRC 的特定生长模式或芽生强度无关,但 MMR 蛋白表达缺失与 BRAF 突变、扩展生长和 PTL 存在相关。我们的结果证实了 MMR 蛋白表达缺失、激活的 BRAF 突变、扩展生长和 PTL 反应之间的关联,以及肿瘤芽生、浸润性生长模式和肿瘤侵袭性之间的关联;然而,在 CRC 中,激活的 KRAS 或 BRAF 突变的存在与特定的侵袭模式或肿瘤侵袭性之间没有这种关联。