Fernanda Viviane Mariano1, Felipe Fidalgo2, André Luís Maion Casarim3, Antônio Santos Martins3, João Figueira Scarini4, Reydson Alcides de Lima Souza4, Erika Said Egal5, Luiz Paulo Kowalski6, Ana Cristina Victorino Krepischi7, Albina Altemani5. 1. Pathology Department, Faculty of Medical Sciences/UNICAMP, Campinas-SP, Brazil. Electronic address: fevimariano@gmail.com. 2. International Research Center, AC Camargo Cancer Center, São Paulo-SP, Brazil. 3. Head and Neck Surgery Department, Faculty of Medical Sciences/UNICAMP, Campinas-SP, Brazil. 4. Oral Pathology Department, Piracicaba Dental School/UNICAMP, Piracicaba-SP, Brazil. 5. Pathology Department, Faculty of Medical Sciences/UNICAMP, Campinas-SP, Brazil. 6. Head and Neck Surgery Department, AC Camargo Cancer Center, São Paulo-SP, Brazil. 7. Department of Genetics and Evolutionary Biology, Institute of Biosciences, USP, São Paulo-SP, Brazil.
Abstract
OBJECTIVE: As the genetic changes in recurrent pleomorphic adenoma (RPA) have not yet been investigated, the aim of this study was to assess the genomic profile of somatic copy number alteration in RPA and pleomorphic adenoma (PA) by using array comparative genomic hybridization (aCGH). STUDY DESIGN: Four cases of RPA and 13 cases of PA were evaluated by using aCGH, using a 180 K platform. Data were analyzed by using Nexus Copy Number Discovery. RESULTS: The RPA group rarely showed any copy number alteration, except for 1 case that exhibited losses in 5 p15.33 p15.1, 5 q13.1 q35.3 and 12 q12 q13.11. The PA group also showed few copy number alterations, and the most frequent findings involved chromosomes 8: 8p21.3-p12 (gain), 8q12.1 (loss), 8p23.3-q24.3 (gain), and 8q12.1-q21.11 (gain). Genomic amplifications were revealed in the PA group, and the relevant affected genes were MAML2 and LIFR. CONCLUSIONS: PA and RPA exhibit few somatic copy number alterations and show a similar genomic profile on aCGH.
OBJECTIVE: As the genetic changes in recurrent pleomorphic adenoma (RPA) have not yet been investigated, the aim of this study was to assess the genomic profile of somatic copy number alteration in RPA and pleomorphic adenoma (PA) by using array comparative genomic hybridization (aCGH). STUDY DESIGN: Four cases of RPA and 13 cases of PA were evaluated by using aCGH, using a 180 K platform. Data were analyzed by using Nexus Copy Number Discovery. RESULTS: The RPA group rarely showed any copy number alteration, except for 1 case that exhibited losses in 5 p15.33 p15.1, 5 q13.1 q35.3 and 12 q12 q13.11. The PA group also showed few copy number alterations, and the most frequent findings involved chromosomes 8: 8p21.3-p12 (gain), 8q12.1 (loss), 8p23.3-q24.3 (gain), and 8q12.1-q21.11 (gain). Genomic amplifications were revealed in the PA group, and the relevant affected genes were MAML2 and LIFR. CONCLUSIONS:PA and RPA exhibit few somatic copy number alterations and show a similar genomic profile on aCGH.