title: Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study.
abstract: OBJECTIVE
  A 10-month-old girl with a Brachmann-Cornelia de Lange syndrome and a choroid plexus papilloma of the brain was studied at the Hospital Infantil de México Federico Gómez (HIMFG) in Mexico City.
  
  
  RESULTS
  Presumptive papilloma of the third ventricle was evidenced on CT and MR images and removed. Pathological analysis confirmed its origin. A posterior radiosurgery was required due to a tumor relapse. Karyotypes (GTG bands) of the patient and her parents undertaken at HIMFG were normal. Array comparative genomic hybridization (array CGH) analyses of blood DNA of the patient and her parents carried out at BlueGnome's Laboratory in Cambridge, UK, set in evidence amplification of genes SPNS2, GGT6, SMTNL2, PELP1, MYBBP1A, and ALOX15 in chromosome 17p of the patient. Since MYBBP1A is a proto-oncogene and ALOX15 participates in the development of cancer and metastases of tumors, further fluorescent in situ hybridization (FISH) analyses of these two genes were implemented at HIMFG. Amplification of the two genes was found in the tumor of the case under study but not in an unrelated papilloma of the choroid plexus.
  
  
  CONCLUSIONS
  Further analyses of the association of choroid plexus papillomas with disorders of psycho-neural development and its relationship to molecular genetic modifications at chromosome 17p are now under way at HIMFG.
authors: Department of Neurosurgery, Hospital Infantil de México Federico Gómez, México, D.F., Mexico.
authors: Fernando Chico-Ponce
authors: FC
authors: de León
authors: Luis F
authors: LF
authors: Gordillo-Domínguez
authors: Vicente
authors: V
authors: González-Carranza
authors: Samuel
authors: S
authors: Torres-García
authors: Constanza
authors: C
authors: García-Delgado
authors: Adriana
authors: A
authors: Sánchez-Boiso
authors: Francisco
authors: F
authors: Arenas-Huertero
authors: Mario
authors: M
authors: Perezpeña-Diazconti
authors: Pilar
authors: P
authors: Eguía-Aguilar
authors: César
authors: C
authors: Baqueiro-Hernández
authors: Guillermo
authors: G
authors: Buenrostro-Márquez
authors: Sonia
authors: S
authors: Martínez-Rodríguez
authors: Patrick
authors: P
authors: Dhellemmes
authors: Eduardo
authors: E
authors: Castro-Sierra
mesh_terms: D001093:Arachidonate 15-Lipoxygenase / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins; D003635:De Lange Syndrome / Q000150:complications* / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009687:Nuclear Proteins / Q000235:genetics; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics; D020288:Papilloma, Choroid Plexus / Q000150:complications* / Q000235:genetics / Q000601:surgery; D000090063:Proto-Oncogene Mas; D016601:RNA-Binding Proteins; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; C000715470:MAS1 protein, human; C491719:MYBBP1A protein, human; D009687:Nuclear Proteins; D029543:Nucleocytoplasmic Transport Proteins; D000090063:Proto-Oncogene Mas; D016601:RNA-Binding Proteins; D014157:Transcription Factors; C515716:ALOX15 protein, human; D001093:Arachidonate 15-Lipoxygenase