RESUMEN
PURPOSE: 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. METHODS AND 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. DISCUSSION: 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.
Asunto(s)
Síndrome de Cornelia de Lange/complicaciones , Papiloma del Plexo Coroideo/complicaciones , Araquidonato 15-Lipooxigenasa/genética , Hibridación Genómica Comparativa , Proteínas de Unión al ADN , Síndrome de Cornelia de Lange/genética , Síndrome de Cornelia de Lange/cirugía , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Proteínas Nucleares/genética , Proteínas de Transporte Nucleocitoplasmático/genética , Papiloma del Plexo Coroideo/genética , Papiloma del Plexo Coroideo/cirugía , Proto-Oncogenes Mas , Proteínas de Unión al ARN , Factores de TranscripciónRESUMEN
PURPOSE: Cytogenetic studies of atypical choroid plexus papillomas (CPP) have been poorly described. In the present report, the cytogenetic investigation of an atypical CPP occurring in an infant is detailed. METHODS: CPP chromosome preparations were analyzed by giemsa-trypsin-banding (GTG-banding) and comparative genome hybridization (CGH). RESULTS: Conventional karyotype analysis of tumor culture showed a normal chromosome complement. The results were confirmed by CGH, showing normal hybridization patterns for the sample. CONCLUSIONS: To date, the few atypical CPPs described in the literature have shown disparate cytogenetic information. This is the first report of a normal chromosome complement in atypical CPP. The heterogenic genetic features observed in these small series may reflect the diverse genetic background of choroid plexus tumors in children.
Asunto(s)
Cariotipificación , Papiloma del Plexo Coroideo/genética , Plexo Coroideo/cirugía , Neoplasias del Plexo Coroideo/genética , Neoplasias del Plexo Coroideo/cirugía , Citogenética , Humanos , Lactante , Masculino , Papiloma del Plexo Coroideo/cirugía , Resultado del TratamientoRESUMEN
Cytogenetic studies of choroid plexus tumors, particularly for atypical choroid plexus papillomas, have been rarely described. In the present report, the cytogenetic investigation of an atypical choroid plexus papilloma occurring at the posterior fossa of a 16-year-old male is described. Comparative genome hybridization analysis demonstrated gains of genetic material from almost all chromosomes. Chromosome losses involved 19p, regional losses at chromosome X and loss of chromosome Y. The presence of polyploid cells was confirmed by fluorescence in situ hybridization analysis with probes directed to centromeric regions. Furthermore, the microscopic analysis of cultures showed nuclear buds, nucleoplasmic bridges, and micronuclei in 23% of tumor cells suggesting the presence of complex chromosomal abnormalities. Previous cytogenetic studies on choroid plexus papillomas showed either normal, hypodiploid or hyperdiploid karyotypes. To the best of our knowledge, this is the first report of polyploidy in choroid plexus papilloma of intermediate malignancy grade. Although the mechanisms beneath such genome duplication remain to be elucidated, the observed abnormal nuclear shapes indicate constant restructuring of the tumor's genome and deserves further investigation.