title: A renal metanephric adenoma showing both a 2p16e24 deletion and BRAF V600E mutation: a synergistic role for a tumor suppressor gene on chromosome 2p and BRAF activation?
abstract: Metanephric adenomas (MAs) are rare benign tumors that may be difficult to recognize. Specific genetic anomalies might aid in diagnosis, but genomic data are limited and conflicting. Consistent mutations of the BRAF gene have been recently reported in MAs and could become useful as a discriminative marker among renal tumors. We report here a case of MA, showing both a BRAF V600E mutation and a segmental loss within bands 2p16 and 2p24 as the sole quantitative genomic anomaly. We compared the borders and size of the deleted region in our case to those of five cases of MAs previously reported. We identified a common minimal region containing 87 genes, among which several tumor suppressor genes could be candidate actors in the pathogenesis of MA. We ruled out MSH2 and MSH6 as target gene candidates, both located in the deleted region, on the basis of preserved expression and microsatellite sequence stability. Our study confirms the recurrence of a BRAF mutation and of 2p alterations in MAs. This first case showing simultaneous presence of a BRAF mutation and a 2p deletion raises the question of a synergistic role for these two anomalies in the pathogenesis of MAs.
authors.forename: Bérengère
authors.initials: B
authors.lastname: Dadone
authors.forename: Damien
authors.initials: D
authors.lastname: Ambrosetti
authors.forename: Xavier
authors.initials: X
authors.lastname: Carpentier
authors.forename: Valérie
authors.initials: V
authors.lastname: Duranton-Tanneur
authors.forename: Fanny
authors.initials: F
authors.lastname: Burel-Vandenbos
authors.forename: Jean
authors.initials: J
authors.lastname: Amiel
authors.forename: Florence
authors.initials: F
authors.lastname: Pedeutour
mesh_terms: D000217:Acyltransferases; D000236:Adenoma / Q000175:diagnosis / Q000235:genetics*; D019943:Amino Acid Substitution; D002352:Carrier Proteins; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D004789:Enzyme Activation / Q000235:genetics; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics*; D053842:Microsatellite Instability; D008875:Middle Aged; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf
chemical_list: C520594:Abhd5 protein, rat; D002352:Carrier Proteins; D000217:Acyltransferases; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf