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
PurposeA 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 Mexico Federico Gomez (HIMFG) in Mexico City.Methods and resultsPresumptive 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.DiscussionFurther 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.
Child's Nervous System