PMID- 28235632 OWN - NLM STAT- MEDLINE DCOM- 20171002 LR - 20220311 IS - 1532-8392 (Electronic) IS - 0046-8177 (Linking) VI - 66 DP - 2017 Aug TI - Utility of comprehensive genomic sequencing for detecting HER2-positive colorectal cancer. PG - 1-9 LID - S0046-8177(17)30051-5 [pii] LID - 10.1016/j.humpath.2017.02.004 [doi] AB - HER2-targeted therapy is considered effective for KRAS codon 12/13 wild-type, HER2-positive metastatic colorectal cancer (CRC). In general, HER2 status is determined by the use of immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). Comprehensive genomic sequencing (CGS) enables the detection of gene mutations and copy number alterations including KRAS mutation and HER2 amplification; however, little is known about the utility of CGS for detecting HER2-positive CRC. To assess its utility, we retrospectively investigated 201 patients with stage I-IV CRC. The HER2 status of the primary site was assessed using IHC and FISH, and HER2 amplification of the primary site was also assessed using CGS, and the findings of these approaches were compared in each patient. CGS successfully detected alterations in 415 genes including KRAS codon 12/13 mutation and HER2 amplification. Fifty-nine (29%) patients had a KRAS codon 12/13 mutation. Ten (5%) patients were diagnosed as HER2 positive because of HER2 IHC 3+, and the same 10 (5%) patients had HER2 amplification evaluated using CGS. The results of HER2 status and HER2 amplification were completely identical in all 201 patients (P < .001). Nine of the 10 HER2-positive patients were KRAS 12/13 wild-type and were considered possible candidates for HER2-targeted therapy. CGS has the same utility as IHC and FISH for detecting HER2-positive patients who are candidates for HER2-targeted therapy, and facilitates precision medicine and tailor-made treatment. CI - Copyright (c) 2017 The Authors. Published by Elsevier Inc. All rights reserved. FAU - Shimada, Yoshifumi AU - Shimada Y AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. Electronic address: shimaday@med.niigata-u.ac.jp. FAU - Yagi, Ryoma AU - Yagi R AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Kameyama, Hitoshi AU - Kameyama H AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Nagahashi, Masayuki AU - Nagahashi M AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Ichikawa, Hiroshi AU - Ichikawa H AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Tajima, Yosuke AU - Tajima Y AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Okamura, Takuma AU - Okamura T AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Nakano, Mae AU - Nakano M AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Nakano, Masato AU - Nakano M AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Sato, Yo AU - Sato Y AD - Department of Digestive and General Surgery, Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, Niigata 949-7302, Japan. FAU - Matsuzawa, Takeaki AU - Matsuzawa T AD - Department of Digestive and General Surgery, Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, Niigata 949-7302, Japan. FAU - Sakata, Jun AU - Sakata J AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Kobayashi, Takashi AU - Kobayashi T AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Nogami, Hitoshi AU - Nogami H AD - Department of Surgery, Niigata Cancer Center Hospital, Niigata 951-8566, Japan. FAU - Maruyama, Satoshi AU - Maruyama S AD - Department of Surgery, Niigata Cancer Center Hospital, Niigata 951-8566, Japan. FAU - Takii, Yasumasa AU - Takii Y AD - Department of Surgery, Niigata Cancer Center Hospital, Niigata 951-8566, Japan. FAU - Kawasaki, Takashi AU - Kawasaki T AD - Department of Pathology, Niigata Cancer Center Hospital, Niigata 951-8566, Japan. FAU - Homma, Kei-Ichi AU - Homma KI AD - Department of Pathology, Niigata Cancer Center Hospital, Niigata 951-8566, Japan. FAU - Izutsu, Hiroshi AU - Izutsu H AD - Diagnostics Research Department, Life innovation Research Institute, Denka Innovation Center, Denka Co, Ltd, Tokyo 194-8560, Japan. FAU - Kodama, Keisuke AU - Kodama K AD - Diagnostics Research Department, Life innovation Research Institute, Denka Innovation Center, Denka Co, Ltd, Tokyo 194-8560, Japan. FAU - Ring, Jennifer E AU - Ring JE AD - KEW, Inc., Cambridge, MA 02139, USA. FAU - Protopopov, Alexei AU - Protopopov A AD - KEW, Inc., Cambridge, MA 02139, USA. FAU - Lyle, Stephen AU - Lyle S AD - KEW, Inc., Cambridge, MA 02139, USA; University of Massachusetts Medical School, Worcester, MA 01655, USA. FAU - Okuda, Shujiro AU - Okuda S AD - Division of Bioinformatics, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Akazawa, Kohei AU - Akazawa K AD - Department of Medical Informatics, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. FAU - Wakai, Toshifumi AU - Wakai T AD - Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan. LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20170222 PL - United States TA - Hum Pathol JT - Human pathology JID - 9421547 RN - 0 (Biomarkers, Tumor) RN - 0 (KRAS protein, human) RN - EC 2.7.10.1 (ERBB2 protein, human) RN - EC 2.7.10.1 (Receptor, ErbB-2) RN - EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras)) SB - IM MH - Aged MH - Biomarkers, Tumor/analysis/*genetics MH - Biopsy MH - Colorectal Neoplasms/chemistry/*genetics/pathology/therapy MH - DNA Mutational Analysis MH - Female MH - *Gene Amplification MH - Genetic Predisposition to Disease MH - Humans MH - Immunohistochemistry MH - In Situ Hybridization, Fluorescence MH - Male MH - Middle Aged MH - Mutation MH - Neoplasm Metastasis MH - Neoplasm Staging MH - Phenotype MH - Precision Medicine MH - Predictive Value of Tests MH - Proto-Oncogene Proteins p21(ras)/genetics MH - Receptor, ErbB-2/analysis/*genetics MH - Reproducibility of Results MH - Retrospective Studies MH - *Sequence Analysis, DNA OTO - NOTNLM OT - Colorectal cancer OT - Comprehensive genomic sequencing OT - Fluorescence in situ hybridization OT - HER2 OT - Immunohistochemistry OT - Next-generation sequencing EDAT- 2017/02/27 06:00 MHDA- 2017/10/03 06:00 CRDT- 2017/02/26 06:00 PHST- 2016/11/18 00:00 [received] PHST- 2017/01/18 00:00 [revised] PHST- 2017/02/09 00:00 [accepted] PHST- 2017/02/27 06:00 [pubmed] PHST- 2017/10/03 06:00 [medline] PHST- 2017/02/26 06:00 [entrez] AID - S0046-8177(17)30051-5 [pii] AID - 10.1016/j.humpath.2017.02.004 [doi] PST - ppublish SO - Hum Pathol. 2017 Aug;66:1-9. doi: 10.1016/j.humpath.2017.02.004. Epub 2017 Feb 22.