Identification of subgroup-specific miRNA patterns by epigenetic profiling of sporadic and Lynch syndrome-associated colorectal and endometrial carcinoma

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• 作者：Sippy Kaur (1)
  Johanna E Lotsari (1)
  Sam Al-Sohaily (2)
  Janindra Warusavitarne (2)
  Maija RJ Kohonen-Corish (2) (3) (4)
  P盲ivi Peltom盲ki (1)
  
  1. Department of Medical Genetics ; Biomedicum Helsinki ; University of Helsinki ; Haartmaninkatu 8 ; P.O. Box 63 ; Helsinki ; FIN-00014 ; Finland
  2. The Kinghorn Cancer Centre ; Garvan Institute of Medical Research ; 370 Victoria Street ; Darlinghurst ; Sydney ; NSW ; 2010 ; Australia
  3. St Vincent鈥檚 Clinical School ; UNSW Medicine ; Darlinghurst ; NSW ; 2052 ; Australia
  4. School of Medicine ; University of Western Sydney ; Campelltown ; Sydney ; NSW ; 2560 ; Australia
  
• 关键词：miRNA ; Methylation ; Microsatellite instability ; Lynch syndrome ; Colorectal cancer ; Endometrial cancer
• 刊名：Clinical Epigenetics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：7
• 期：1
• 全文大小：1,060 KB
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• 刊物主题：Human Genetics; Gene Function;
• 出版者：BioMed Central
• ISSN：1868-7083

文摘

Background Altered expression of microRNAs (miRNAs) commonly accompanies colorectal (CRC) and endometrial carcinoma (EC) development, but the underlying mechanisms and clinicopathological correlations remain to be clarified. We focused on epigenetic mechanisms and aimed to explore if DNA methylation patterns in tumors depend on DNA mismatch repair (MMR) status, sporadic vs. Lynch-associated disease, and geographic origin (Finland vs. Australia). Treatment of cancer cell lines with demethylating agents revealed 109 significantly upregulated miRNAs. Seven met our stringent criteria for possible methylation-sensitive miRNAs and were used to screen patient specimens (205 CRCs and 36 ECs) by methylation-specific multiplex ligation-dependent probe amplification. Results Three miRNAs (129-2, 345, and 132) with low methylation levels in normal tissue and frequent hypermethylation in tumors were of particular interest. Hypermethylation of miR-345 and miR-132 associated with MMR deficiency in CRC regardless of geographic origin, and hypermethylation of miR-132 distinguished sporadic MMR-deficient CRC from Lynch-CRC. Finally, hypermethylation of miRNAs stratified 49 endometrial hyperplasias into low-methylator (simple hyperplasia) and high-methylator groups (complex hyperplasia with or without atypia) and suggested that miR-129-2 methylation in particular could serve as a marker of progression in early endometrial tumorigenesis. Conclusions Our study identifies miR-345 and miR-132 as novel differentially methylated miRNAs in CRC, thereby facilitating sub-classification of CRC and links miR-129-2 methylation to early endometrial tumorigenesis.