Targeted next‐generation sequencing and non‐coding RNA expression analysis of clear cell papillary renal cell carcinoma suggests distinct pathological mechanisms from other renal tumour subtypes

• DOI: 10.1002/path.4296
• Publication Date: 2013-10-23T22:27:28Z
• Authors: Charles H Lawrie; Erika Larrea; Gorka Larrinaga; Ibai Goicoechea; María Arestin; Marta Fernandez‐M...; Ondrej Hes; Francisco Cáceres; Lorea Manterola; José I López
• Keywords: PAX8

Abstract Clear cell tubulopapillary renal carcinoma ( CCPRCC ) is a recently described rare malignancy that displays characteristic gross, microscopic and immunohistochemical differences from other tumour types. However, remains very poorly understood entity. We therefore sought to elucidate some of the molecular mechanisms involved in this neoplasm by carrying out targeted next‐generation sequencing NGS identify associated mutations, addition examined expression non‐coding (nc) RNAs . identified multiple somatic mutations cases, including recurrent [3/14 cases (21%)] non‐synonymous T992I mutation MET proto‐oncogene, gene with epithelial‐to‐mesenchymal transition EMT ). Using microarray approach, we found mature n = 1105) pre‐ miRNAs 1105), as well snoRNA scaRNAs 2214), differed clear CCRCC or papillary PRCC tumours. Surprisingly, unlike subtypes, all five members miR ‐200 family were over‐expressed cases. As these are intimately , stained for E‐cadherin, vimentin β ‐catenin cells positive three markers, combination rarely reported tumours could have diagnostic implications. Taken together mutational analysis, data suggest incomplete blocked, consistent indolent clinical course typical malignancy. In summary, describing novel pathological mechanism carcinomas, study adds mounting evidence should be formally considered distinct Microarray been deposited GEO database [GEO accession number (GSE51554)]. Copyright © 2013 Pathological Society Great Britain Ireland. Published John Wiley & Sons, Ltd.