title: Pediatric pineal germinomas: Epigenetic and genomic approach.
abstract: OBJECTIVE
  We identify and correlate chromosomal alterations, methylation patterns and gene expression in pediatric pineal germinomas.
  
  
  METHODS
  CGH microarray, methylation and gene expression were performed through the Agilent platform. The results were analyzed with MatLab software, MapViewer, DAVID, GeneCards and Hippie.
  
  
  RESULTS
  Amplifications were found in 1q24.2, 1q31.3, 2p11.2, 3p22.2, 7p13, 7p15.2, 8p22, 12p13.2, 14q24.3 y 22q12; and deletions were found in 1q21.2, 9p24.1, 10q11.22, 11q11, 15q11.2 and 17q21.31. In the methylation analysis, we observed 10,428 CpG Islands with a modified methylation status that may affect 11,726 genes. We identified 1260 overexpressed genes and 470 underexpressed genes. The genes RUNDC3A, CDC247, CDCA7L, ASAH1, TRA2A, LPL and NPC2 were altered among the three levels.
  
  
  CONCLUSIONS
  We identified the 1q24.2 and 1q31.3 amplified regions and the 1q21.3 and 11q11 deleted regions as the most important aims. The genes NPC2 and ASAH1 may play an important role in the development, progression and tumor maintenance. The ASAH1 gene is an ideal candidate to identify drug responses. These genomic and epigenetic studies may help to characterize the formation of pineal germ cell tumors to determine prognostic markers and also to identify shared characteristics in gonadal and extragonadal tumors.
authors.affiliation: Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría "Dr. Silvestre Frenk Freud", Centro Médico Nacional "Siglo XXI", IMSS, Av. Cuauhtémoc 330, Col. Doctores, 06720, Del. Cuauhtémoc, México D.F., Mexico; Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de México, Avenida Ciudad Universitaria 3000, 04360, Coyoacán, México D.F., Mexico.
authors.forename: Monserrat
authors.initials: M
authors.lastname: Pérez-Ramírez
authors.affiliation: Servicio de Neurocirugía Pediátrica, Hospital General "Dr. Gaudencio González Garza", Centro Médico Nacional "La Raza", IMSS, Calzada Vallejo y Jacarandas S/N, 02980, Col. La Raza, Del. Azcapotzalco, México D.F., Mexico.
authors.forename: Alejo Justino
authors.initials: AJ
authors.lastname: Hernández-Jiménez
authors.affiliation: Servicio de Neurocirugía Pediátrica, Hospital General "Dr. Gaudencio González Garza", Centro Médico Nacional "La Raza", IMSS, Calzada Vallejo y Jacarandas S/N, 02980, Col. La Raza, Del. Azcapotzalco, México D.F., Mexico.
authors.forename: Armando
authors.initials: A
authors.lastname: Guerrero-Guerrero
authors.affiliation: Servicio de Patología, Hospital de Pediatría "Dr. Silvestre Frenk Freud", Centro Médico Nacional "Siglo XXI", IMSS, Av. Cuauhtémoc 330, Col. Doctores, 06720, Del. Cuauhtémoc, México D.F., Mexico.
authors.forename: Alicia Georgina
authors.initials: AG
authors.lastname: Siordia-Reyes
authors.affiliation: Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, 13 Sur 2702, Col. Volcanes, 72410, Puebla, Mexico.
authors.forename: Marta Elena
authors.initials: ME
authors.lastname: Hernández-Caballero
authors.affiliation: Servicio de Neurocirugía Pediátrica, Hospital General "Dr. Gaudencio González Garza", Centro Médico Nacional "La Raza", IMSS, Calzada Vallejo y Jacarandas S/N, 02980, Col. La Raza, Del. Azcapotzalco, México D.F., Mexico.
authors.forename: Antonio
authors.initials: A
authors.lastname: García-Méndez
authors.affiliation: Departamento de Neurocirugía, Hospital Infantil de México Federico Gómez, Dr. Márquez 162, Col. Doctores, 06720, Del. Cuauhtémoc, México D.F., Mexico.
authors.forename: Fernando
authors.initials: F
authors.lastname: Chico-Ponce de León
authors.affiliation: Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría "Dr. Silvestre Frenk Freud", Centro Médico Nacional "Siglo XXI", IMSS, Av. Cuauhtémoc 330, Col. Doctores, 06720, Del. Cuauhtémoc, México D.F., Mexico.
authors.forename: Fabio Abdel
authors.initials: FA
authors.lastname: Salamanca-Gómez
authors.affiliation: Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría "Dr. Silvestre Frenk Freud", Centro Médico Nacional "Siglo XXI", IMSS, Av. Cuauhtémoc 330, Col. Doctores, 06720, Del. Cuauhtémoc, México D.F., Mexico. Electronic address: normandgarcia@gmail.com.
authors.forename: Normand
authors.initials: N
authors.lastname: García-Hernández
mesh_terms: D000293:Adolescent; D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D019175:DNA Methylation; D044127:Epigenesis, Genetic / Q000235:genetics*; D015870:Gene Expression; D023281:Genomics / Q000379:methods*; D018237:Germinoma / Q000235:genetics*; D006801:Humans; D007223:Infant; D010870:Pineal Gland / Q000473:pathology*
keywords: Alteration chromosome; Gene expression; Methylation pattern; Pineal germinoma