SNP array genomic analysis of matched pairs of brain and liver metastases in primary colorectal cancer

Purpose Brain metastasis formation is a rare and late event in colorectal cancer (CRC) patients and associated with poor survival. In contrast to other metastatic sites, the knowledge on chromosomal aberrations in brain metastases is very limited. Methods Therefore, we carried out single nucleotide...

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Bibliographic Details
Published in:Journal of cancer research and clinical oncology 2023-12, Vol.149 (20), p.18173-18183
Main Authors: Brandt, Vivian-Pascal, Holland, Heidrun, Wallenborn, Marco, Koschny, Ronald, Frydrychowicz, Clara, Richter, Mandy, Holland, Lydia, Nestler, Ulf, Sander, Caroline
Format: Article
Language:English
Subjects:
Cancer Research
Chromosome 3
Chromosome aberrations
Colorectal cancer
Colorectal carcinoma
Effectiveness
Genetic analysis
Genomic analysis
Hematology
Heterozygosity
Internal Medicine
Liver
Loss of heterozygosity
Medicine
Medicine & Public Health
Metastases
Metastasis
Oncology
Single-nucleotide polymorphism
Tumors
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Summary:Purpose Brain metastasis formation is a rare and late event in colorectal cancer (CRC) patients and associated with poor survival. In contrast to other metastatic sites, the knowledge on chromosomal aberrations in brain metastases is very limited. Methods Therefore, we carried out single nucleotide polymorphism (SNP) array analyses on matched primary CRC and brain metastases of four patients as well as on liver metastases of three patients. Results Brain metastases showed more chromosomal aberrations than primary tumors or liver metastases. Commonly occurring aberrations were gain of 8q11.1-q24.3 (primary CRC), gain of 13q12.13-q12.3 (liver metastases), and gain of 20q11.1-q13.33 (brain metastases). Furthermore, we found one copy-neutral loss of heterozygosity (cn-LOH) region on chromosome 3 in primary CRC, three cn-LOH regions in liver metastases and 23 cn-LOH regions in brain metastases, comprising 26 previously undescribed sites. Conclusion The more frequent occurrence of cn-LOHs and subsequently affected genes in brain metastases shed light on the pathophysiology of brain metastasis formation. Further pairwise genetic analyses between primary tumors and their metastases will help to define the role of affected genes in cn-LOH regions.
ISSN:0171-5216
1432-1335
DOI:10.1007/s00432-023-05505-4