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. 2020 Jan;9(2):745-756.
doi: 10.1002/cam4.2727. Epub 2019 Nov 28.

Gene mutation profiling in Chinese colorectal cancer patients and its association with clinicopathological characteristics and prognosis

Zu-Lu Ye  1 , Miao-Zhen Qiu  2 , Tao Tang  1 , Fang Wang  1 , Yi-Xin Zhou  3 , Meng-Jie Lei  3 , Wen-Long Guan  2 , Cai-Yun He  1
Affiliations

Gene mutation profiling in Chinese colorectal cancer patients and its association with clinicopathological characteristics and prognosis

Zu-Lu Ye et al. Cancer Med. 2020 Jan.

Abstract

Background: Gene mutations may play an important role in the development, response to treatment and prognosis of colorectal cancer (CRC). This retrospective study aimed to investigate the mutation profiling of Chinese patients with CRC, and its correlation with clinicopathological features and prognosis.

Methods: This study included 1190 Chinese CRC patients who were diagnosed between May 1998 and December 2018 and received clinical genetic testing. The OncoCarta Panel was used to test a total of 238 possible mutations in 19 common oncogenes.

Results: Five hundred and eighty-two (48.9%) cases were detected with gene mutations. Of the 582 cases, there were 111 cases (19.7%) with two concurrent mutations, and six cases (1.0%) with three concurrent mutations. KRAS was the most common gene mutation that occurred in all cases (429, 36.1%), followed by PIK3CA (121, 10.2%), NRAS (47, 3.9%), BRAF (35, 2.9%), HRAS (11, 0.9%) and epidermal growth factor receptor (EGFR) (11, 0.9%). AKT1, KIT, FGFR1, FGFR3, FLT3, CDK, ERBB2, ABL1, MET, RET and PDGFRA mutations were also detected in several cases. When it came to prognosis, we found that KRAS/NRAS/PIK3CA/BRAF mutation was not associated with prognosis. But BRAF mutation was associated with poor prognosis in patients who accepted anti-EGFR therapy.

Conclusions: The molecular testing offered the clinical data and mutation profile of Chinese CRC patients. The information of these mutated genes may help to find out the correlation between mutated genes and the development or prognosis of CRC.

Keywords: colorectal cancer; mutation profiling; prognosis.

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Conflict of interest statement

None declared.

Figures

Figure 1
Figure 1
The frequency of different gene mutations in 582 patients with at least one mutation
Figure 2
Figure 2
A schematic map of mutated genes in 582 patients with at least one mutation
Figure 3
Figure 3
Association among different gene mutations
Figure 4
Figure 4
The distribution of mutation subtypes in KRAS (A), NRAS (B), PIK3CA (C) and BRAF (D)
Figure 5
Figure 5
The relationship between gene mutation and prognosis of CRC patients. KRAS, NRAS and HRAS mutation (A). KRAS G12D and G13D mutation (B). PIK3CA mutation (C). BRAF mutation (D)
See this image and copyright information in PMC

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