A colorectal adenoma, an aberrantly growing tissue, arises from the intestinal epithelium and is considered as precursor of colorectal cancer (CRC). In this study, we investigated structural and numerical chromosomal aberrations in adenomas, hypothesizing that chromosomal instability (CIN) occurs early in adenomas. We applied array comparative genomic hybridization (aCGH) to fresh frozen colorectal adenomas and their adjacent mucosa from 16 patients who underwent colonoscopy examination. In our study, histologically similar colorectal adenomas showed wide variability in chromosomal instability. Based on the obtained results, we further stratified patients into four distinct groups. The first group showed the gain of MALAT1 and TALAM1, long non-coding RNAs (lncRNAs). The second group involved patients with numerous microdeletions. The third group consisted of patients with a disrupted karyotype. The fourth group of patients did not show any CIN in adenomas. Overall, we identified frequent losses in genes, such as TSC2, COL1A1, NOTCH1, MIR4673, and GNAS, and gene gain containing MALAT1 and TALAM1. Since long non-coding RNA MALAT1 is associated with cancer cell metastasis and migration, its gene amplification represents an important event for adenoma development.

Biomedical Centre Faculty of Medicine in Pilsen Charles University Alej Svobody 76 323 00 Pilsen Czech Republic

Clinic of Hepatogastroenterology Institute for Clinical and Experimental Medicine Videnska 1958 9 140 21 Prague Czech Republic

Department of Biology and Medical Genetics 2nd Faculty of Medicine Charles University and University Hospital Motol 5 Uvalu 84 150 06 Prague Czech Republic

Department of Gastroenterology Libera Scientia Lucni 7a 130 00 Prague Czech Republic

Department of General Visceral and Thoracic Surgery Klinikum Weiden Söllnerstraße 16 92637 Weiden Germany

Department of Internal Medicine 3rd Faculty of Medicine University and Faculty Thomayer Hospital Prague Ruska 87 100 00 Prague Czech Republic

Department of Molecular Biology of Cancer Institute of Experimental Medicine of the Czech Academy of Sciences Videnska 1083 142 00 Prague Czech Republic

Institute of Biology and Medical Genetics 1st Faculty of Medicine Charles University and General University Hospital Prague Albertov 4 128 00 Prague Czech Republic

Institute of Physiology 1st Faculty of Medicine Charles University Katerinska 1660 32 121 08 Praha Czech Republic

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MALAT1 in Liquid Biopsy: The Diagnostic and Prognostic Promise for Colorectal Cancer and Adenomas?