Genomic profiling of collecting duct carcinoma

• Project/Area Number: 25860269
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human pathology
• Research Institution: Oita University
• Principal Investigator: INOUE Toru 大分大学, 医学部, 客員研究員 (90468009)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000); Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: 集合管癌 / アレイCGH / アレイＣＧＨ

Outline of Final Research Achievements

Collecting duct carcinoma (CDC) is a rare subtype of renal cell tumors. It is difficult for pathologists to distinguish CDC from high grade papillary renal cell carcinoma (PRCC), and invasive urothelial carcinoma (UC) of renal pelvis. Aim of this study is to analyze the genomic profiles by array comparative genomic hybridizationand clarify whether aCGH is useful for the differential diagnosis of CDC. Carcinoma cells were collected from paraffin-embedded tissue sections and subjected to aCGH using Whole Human Genome 4x44K Oligo Micro Array (Agilent).
Array CGH analysis revealed that, in more than 50% of cases of CDC, gene copy number gains at 17q and 8q and losses at 1p, 3p, 4pq, 6q, 9pq, 11q, 13q, 14q, 18q and 22q were detected. Unsupervised hierarchical cluster analysis of the aCGH data of 30 cases revealed that they were divided into 3 groups. Genomic profiling using aCGH is useful for the differential diagnosis of CDC, high grade papillary RCC and invasive UC.