Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers

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http://hdl.handle.net/10138/315589

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Hanninen , U A , Wirta , E-V , Katainen , R , Tanskanen , T , Hamberg , J , Taipale , M , Böhm , J , Renkonen-Sinisalo , L , Lepistö , A , Forsström , L M , Pitkänen , E , Palin , K , Seppälä , T T , Mäkinen , N , Mecklin , J-P & Aaltonen , L A 2019 , ' Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers ' , British Journal of Cancer , vol. 120 , no. 9 , pp. 922-930 . https://doi.org/10.1038/s41416-019-0427-4

Title: Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers
Author: Hanninen, Ulrika A.; Wirta, Erkki-Ville; Katainen, Riku; Tanskanen, Tomas; Hamberg, Jiri; Taipale, Minna; Böhm, Jan; Renkonen-Sinisalo, Laura; Lepistö, Anna; Forsström, Linda M.; Pitkänen, Esa; Palin, Kimmo; Seppälä, Toni T.; Mäkinen, Netta; Mecklin, Jukka-Pekka; Aaltonen, Lauri A.
Contributor: University of Helsinki, University of Helsinki
University of Helsinki, Lauri Antti Aaltonen / Principal Investigator
University of Helsinki, University of Helsinki
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Surgery
University of Helsinki, II kirurgian klinikka
University of Helsinki, ATG - Applied Tumor Genomics
University of Helsinki, Lauri Antti Aaltonen / Principal Investigator
University of Helsinki, Lauri Antti Aaltonen / Principal Investigator
University of Helsinki, Clinicum
University of Helsinki, ATG - Applied Tumor Genomics
University of Helsinki, Lauri Antti Aaltonen / Principal Investigator
Date: 2019-04-30
Language: eng
Number of pages: 9
Belongs to series: British Journal of Cancer
ISSN: 0007-0920
URI: http://hdl.handle.net/10138/315589
Abstract: 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.
Subject: MICROSATELLITE INSTABILITY
MUTATIONAL PROCESSES
COLON
IMMUNOSCORE
PROGNOSIS
METHYLATION
SIGNATURES
CARCINOMA
FEATURES
KRAS
3122 Cancers
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