Genetic profiling of somatic alterations by Oncomine Focus Assay in Korean patients with advanced gastric cancer

Park,Joonhong; Lee,Sang-Il; Shin,Soyoung; Hong,Jang Hee; Yoo,Han Mo; Kim,Jeong Goo

doi:10.3892/ol.2020.11990

Genetic profiling of somatic alterations by Oncomine Focus Assay in Korean patients with advanced gastric cancer

Authors:
- Joonhong Park
- Sang-Il Lee
- Soyoung Shin
- Jang Hee Hong
- Han Mo Yoo
- Jeong Goo Kim
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Affiliations: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea, Department of Surgery, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon 35015, Republic of Korea, Department of Pharmacology, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon 35015, Republic of Korea, Department of Surgery, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea
Published online on: August 20, 2020 https://doi.org/10.3892/ol.2020.11990
Article Number: 129
Copyright: © Park et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Gastric cancer is one of the leading causes of cancer‑associated death; however, analysis of its molecular and clinical characteristics has been complicated by its histological and etiological heterogeneity. The present study aimed to estimate somatic mutation profiling in gastric cancer. To do so, targeted next‑generation sequencing (NGS) was performed with the Oncomine Focus Assay to compare the clinicopathological characteristics with the mutation profiles in 50 patients with advanced gastric cancer (AGC). Among the 35 hotspot genes and 19 genes for copy number variations (CNVs), 18 single nucleotide variants (SNVs) or small insertions and deletions (14 missense and four frameshift mutations), and 10 amplifications were identified. To examine the association between mutation profiles and clinicopathological characteristics, each element of the clinicopathological characteristics was categorized into three groups: No alteration, PI3K catalytic subunit α (PIK3CA) alterations and alterations other than PIK3CA. Fisher's exact test identified no statistical differences between the clinicopathological characteristics, with the exception of the Tumor‑Node‑Metastasis (TNM) T stage between the three groups. Cases of AGC with somatic alterations but no PIK3CA exhibited a significant difference in the TNM T stage compared with those with no alterations or PIK3CA alterations (P=0.044). In addition, AGC with PIK3CA alterations was categorized by Lauren's classification to the intestinal type only. The distribution of Lauren's classification in AGC with PIK3CA alterations was statistically different compared with AGC with alterations other than PIK3CA (P=0.028), but not compared with AGC with no alterations (P=0.076). In conclusion, the present study demonstrated a molecular profiling approach that identified potential molecular classifications for gastric cancer and suggested a framework for precision medicine in AGC.

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