Journal
BRITISH JOURNAL OF CANCER
Volume 120, Issue 9, Pages 922-930Publisher
SPRINGERNATURE
DOI: 10.1038/s41416-019-0427-4
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Funding
- Academy of Finland (Centre of Excellence in Cancer Genetics Research 2012-2017) [250345]
- Academy of Finland (Centre of Excellence in Tumor Genetics Research 2018-2023) [312041]
- Finnish Cancer Society
- Sigrid Juselius Foundation
- Jane and Aatos Erkko Foundation
- Academy of Finland [295693]
- Ida Montin Foundation
- Juhani Aho Foundation for Medical Research
- Biomedicum Helsinki Foundation
- Finnish Medical Society Duodecim
- Paivikki and Sakari Sohlberg Foundation
- Einar and Karin Stroem Foundation
- Emil Aaltonen Foundation
- Oskar Oflund Foundation
- Finnish-Norwegian Medical Foundation
- Gastroenterological Research Foundation
- Maud Kuistila Memorial Foundation
- K. Albin Johansson Foundation
- Orion-Pharmos Research Foundation
- Academy of Finland (AKA) [295693, 295693] Funding Source: Academy of Finland (AKA)
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BACKGROUND: Approximately 4% of colorectal cancer (CRC) patients have at least two simultaneous cancers in the colon. Due to the shared environment, these synchronous CRCs (SCRCs) provide a unique setting to study colorectal carcinogenesis. Understanding whether these tumours are genetically similar or distinct is essential when designing therapeutic approaches. METHODS: We performed exome sequencing of 47 primary cancers and corresponding normal samples from 23 patients. Additionally, we carried out a comprehensive mutational signature analysis to assess whether tumours had undergone similar mutational processes and the first immune cell score analysis (IS) of SCRC to analyse the interplay between immune cell invasion and mutation profile in both lesions of an individual. RESULTS: The tumour pairs shared only few mutations, favouring different mutations in known CRC genes and signalling pathways and displayed variation in their signature content. Two tumour pairs had discordant mismatch repair statuses. In majority of the pairs, IS varied between primaries. Differences were not explained by any clinicopathological variable or mutation burden. CONCLUSIONS: The study shows major diversity within SCRCs. Rather than rely on data from one tumour, our study highlights the need to evaluate both tumours of a synchronous pair for optimised targeted therapy.
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