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
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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.
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.
KeywordsBrachmann-Cornelia de Lange syndrome Choroid plexus papilloma ALOX15 MYBBP1A
We would like to thank Graham Snudden for his intervention in the array CGH studies carried out at BlueGnome’s Laboratory in Cambridge, UK, as well as David Chrimes and Jessica Massie for their participation in the corresponding analyses, and the latter for her critical review of this manuscript. The human studies included in the manuscript were approved by the Committees of Research, Ethics and Biosafety of Hospital Infantil de México Federico Gómez in accordance to standards set down in the 1964 Declaration of Helsinki and its later amendments. Moreover, parents of the subject of this study gave their informed consent prior to the inclusion of their child and themselves in the study.
Conflict of interest
There were no potential sources of conflict of interest.
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