KRAS, NRAS, PIK3CA Exon 20, and BRAF Genotypes in Synchronous and Metachronous Primary Colorectal Cancers Katharina Balschun, Jochen Haag, Ann-Kathrin.

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KRAS, NRAS, PIK3CA Exon 20, and BRAF Genotypes in Synchronous and Metachronous Primary Colorectal Cancers Katharina Balschun, Jochen Haag, Ann-Kathrin Wenke, Witigo von Schönfels, Nicolas T. Schwarz, Christoph Röcken The Journal of Molecular Diagnostics Volume 13, Issue 4, Pages 436-445 (July 2011) DOI: 10.1016/j.jmoldx.2011.03.002 Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Synchronous primary CRCs with different phenotypes and genotypes. Patient 9: Adenocarcinoma with KRASwild type/BRAFwild type showing a glandular growth pattern (A) and mucinous adenocarcinoma with KRASmutation/BRAFwild type (B). Patient 17: Adenocarcinoma of the sigmoid colon with KRASwild type/BRAFwild type showing a glandular growth pattern (C) and metastatic adenocarcinoma of the descending colon with KRASwild type/BRAFmutation showing a solid growth pattern and pleomorphic tumor cells (D). Inset: Liver metastasis with KRASwild type/BRAFmutation. Original magnification, ×200 (H&E staining). The Journal of Molecular Diagnostics 2011 13, 436-445DOI: (10.1016/j.jmoldx.2011.03.002) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Detection of a novel mutation in exon 2 of the KRAS gene in patient 20: sequence analysis of exon 2 revealed a heterozygous duplication of the three nucleotides coding for codon 13 of the KRAS gene [uncloned PCR product (A) and cloned mutant allele (B)]. The arrowhead indicates the insertion point of the duplicated codon 13. The Journal of Molecular Diagnostics 2011 13, 436-445DOI: (10.1016/j.jmoldx.2011.03.002) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Metachronous carcinomas of the descending colon and stomach with liver metastasis. Patient 21: Gastric biopsy of a mixed-type carcinoma (A–C) showing strong expression of cytokeratin 7 (B) and only focal expression of cytokeratin 20 (C). The gastric cancer had a KRASwild type/BRAFwild type genotype. A liver biopsy specimen from the same patient (D–F) enclosed a necrotic intestinal-type adenocarcinoma with complete lack of cytokeratin 7 expression (E) and strong immunoreactivity for cytokeratin 20 (F), compatible with a liver metastasis of a sigmoid colon cancer resected several years ago. The liver metastasis had a KRASmutation/BRAFwild type genotype. Original magnification, ×200 [H&E (A and D), anti–cytokeratin 7 (B and E), and anti–cytokeratin 20 (C and F) immunostaining]. The Journal of Molecular Diagnostics 2011 13, 436-445DOI: (10.1016/j.jmoldx.2011.03.002) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 4 Synchronous primary CRCs with different phenotypes, genotypes, and MSI status. Patient 14: The microsatellite-stable adenocarcinoma of the rectum had a KRASwild type/BRAFwild type (A–C) and showed a tubular growth pattern, a moderate differentiation, and a normal expression of the DNA-mismatch repair proteins MLH1 (B) and PMS2 (C). The synchronous microsatellite-instable adenocarcinoma of the cecum had a KRASwild type/BRAFmutation (D–F) and showed a cribriform to solid growth pattern, a loss of differentiation, and a loss of nuclear MLH1 (E) and PMS2 (F) expression. Original magnification, ×200 and ×400 (H&E staining). The Journal of Molecular Diagnostics 2011 13, 436-445DOI: (10.1016/j.jmoldx.2011.03.002) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions