Virtual-karyotyping with SNP microarrays in morphologically challenging renal cell neoplasms: a practical and useful diagnostic modality.

摘要: Approximately 7 % of renal cell tumors are reported to be "unclassified" carcinoma (RCC) under the current (morphology-based) classification. Genetic lesions characteristic for RCC subtypes can identified by virtual karyotyping with single nucleotide polymorphisms (SNP) microarrays. In this study, we examined whether karyotypes could used better classify a cohort morphologically challenging/unclassified RCC. Tumor resection specimens from 21 patients were profiled Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays and also evaluated independently panel genito-urinary pathologists. Tumors classified established pattern genomic imbalances based on reference 98 cases classic morphology compared morphologic diagnosis pathologist panel. Virtual analysis recognized patterns chromosomal in all but 1 (16/17 94%) successful analysis. Four failed owing low DNA quality. All unclassified which majority was not reached their karyotypes. case, molecular-based disagreement diagnosis. One case oncocytoma showed novel previously cohort. We conclude that generated valuable tool increasing diagnostic accuracy challenging neoplasms. consider technique is feasible practical approach resolving difficult-to-diagnose clinical practice.