title: Clear cell papillary renal cell carcinoma: a chromosomal microarray analysis of two cases using a novel Molecular Inversion Probe (MIP) technology.
abstract: Chromosomal microarray analysis using novel Molecular Inversion Probe (MIP) technology demonstrated 2,570 kb copy neutral LOH of 10q11.22 in two clear cell papillary renal cell carcinomas. In addition, one of the tumors had a big 29,784 kb deletion of 13q11-q14.2. There were two variants of unknown significance, a 2,509 kb gain of Xp22.33 and a 257 kb homozygous deletion of 8p11.22. The somatic mutation panel containing 74 mutations in nine genes did not reveal any mutations. Besides identification of submicroscopic duplications or deletions, SNP microarrays can reveal abnormal allelic imbalances including LOH and copy neutral LOH, which cannot be recognized by chromosome, FISH, and non-SNP microarray arrays. To the best of our knowledge, this is the first study demonstrating copy neutral LOH of 10q11.22 in clear cell papillary renal cell carcinomas using the new MIP SNP OncoScan FFPE Assay Kit on formalin-fixed paraffin-embedded tumor samples.
authors.affiliation: Department of Pathology, University of Maryland Medical Center, Baltimore, Maryland, USA. Electronic address: balexiev@umm.edu.
authors.forename: Borislav A
authors.initials: BA
authors.lastname: Alexiev
authors.affiliation: Department of Pathology, University of Maryland Medical Center, Baltimore, Maryland, USA.
authors.forename: Ying S
authors.initials: YS
authors.lastname: Zou
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics*; D018628:Gene Dosage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology*; D019656:Loss of Heterozygosity / Q000235:genetics; D046228:Microarray Analysis / Q000379:methods; D015335:Molecular Probes; D009154:Mutation / Q000235:genetics
chemical_list: D015335:Molecular Probes
keywords: Molecular Inversion Probe; Renal carcinoma