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01-01-2015 | Case Report

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

Authors: Fernando Chico-Ponce de León, Luis F. Gordillo-Domínguez, Vicente González-Carranza, Samuel Torres-García, Constanza García-Delgado, Adriana Sánchez-Boiso, Francisco Arenas-Huertero, Mario Perezpeña-Diazconti, Pilar Eguía-Aguilar, César Baqueiro-Hernández, Guillermo Buenrostro-Márquez, Sonia Martínez-Rodríguez, Patrick Dhellemmes, Eduardo Castro-Sierra

Published in: Child's Nervous System | Issue 1/2015

Abstract

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.

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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
Authors: Fernando Chico-Ponce de León
Luis F. Gordillo-Domínguez
Vicente González-Carranza
Samuel Torres-García
Constanza García-Delgado
Adriana Sánchez-Boiso
Francisco Arenas-Huertero
Mario Perezpeña-Diazconti
Pilar Eguía-Aguilar
César Baqueiro-Hernández
Guillermo Buenrostro-Márquez
Sonia Martínez-Rodríguez
Patrick Dhellemmes
Eduardo Castro-Sierra
Publication date: 01-01-2015
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 1/2015
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-014-2504-6

At a glance: The STEP trials

Springer Medicine

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

Purpose

Methods and results

Discussion

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods and results

Discussion

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