Details

Autor(en) / Beteiligte

• Krill-Burger, John M
• Lyons, Maureen A
• Kelly, Lori A
• Sciulli, Christin M
• Petrosko, Patricia
• Chandran, Uma R
• Kubal, Michael D
• Bastacky, Sheldon I
• Parwani, Anil V
• Dhir, Rajiv
• LaFramboise, William A

Titel

Renal Cell Neoplasms Contain Shared Tumor Type–Specific Copy Number Variations

Ist Teil von

• The American journal of pathology, 2012-06, Vol.180 (6), p.2427-2439

Ort / Verlag

Bethesda, MD: Elsevier Inc

Erscheinungsjahr

2012

Quelle

Access via ScienceDirect (Elsevier)

Beschreibungen/Notizen

• Copy number variant (CNV) analysis was performed on renal cell carcinoma (RCC) specimens (chromophobe, clear cell, oncocytoma, papillary type 1, and papillary type 2) using high-resolution arrays (1.85 million probes). The RCC samples exhibited diverse genomic changes within and across tumor types, ranging from 106 to 2238 CNV segments in a clear-cell specimen and in a papillary type 2 specimen, respectively. Despite this heterogeneity, distinct CNV segments were common within each tumor classification: chromophobe (seven segments), clear cell (three segments), oncocytoma (nine segments), and papillary type 2 (two segments). Shared segments ranged from a 6.1-kb deletion (oncocytomas) to a 208.3-kb deletion (chromophobes). Among common tumor type–specific variations, chromophobes, clear-cell tumors, and oncocytomas were composed exclusively of noncoding DNA. No CNV regions were common to papillary type 1 specimens, although there were 12 amplifications and 12 deletions in five of six samples. Three microRNAs and 12 mRNA genes had a ≥98% coding region contained within CNV regions, including multiple gene families (chromophobe: amylases 1A, 1B, and 1C; oncocytoma: general transcription factors 2H2, 2B, 2C, and 2D). Gene deletions involved in histone modification and chromatin remodeling affected individual subtypes (clear cell: SFMBT and SETD2 ; papillary type 2: BAZ1A ) and the collective RCC group ( KDM4C ). The genomic amplifications/deletions identified herein represent potential diagnostic and/or prognostic biomarkers.