Original Article

Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies
G. Queipo^{a, c}, D. Aguirre^a, K. Nieto^{a, c}, Y.R. Peña^b, I. Palma^a, J. Olvera^{b, c}, L. Chavez^{b, c}, N. Nájera^{a, c}, S. Kofman-Alfaro<sup>a, c

a</sup>Departments of Human Genetics and Pathology, Hospital General de México
^bDepartment of Pathology, Hospital Infantil de México Federico Gómez
^cFacultad de Medicina, Universidad Nacional Autónoma de México, México City (México)

Address of Corresponding Author

Cytogenet Genome Res 2008;121:211-214 (DOI: 10.1159/000138887)

  Abstract.

Intracranial germ cell tumors (ICGCTs) occur mainly in male children and adolescents. Polyploidy of the X chromosome and X hypomethylation have been suggested as mechanisms of malignant transformation independently of the histological tumor type. On the other hand, several reports associate these tumors with Klinefelter's syndrome (KS). Recent reports indicate that KS patients have an increased relative risk for development of malignant mediastinal germ cell tumors and also around 8% of male patients with primary mediastinal tumors have KS. In an attempt to explore the frequency of KS amongst patients with ICGCTs and to confirm the presence of X chromosome polyploidies in these tumors, we studied 13 young male patients with ICGCTs. Paraffin-embedded tumoral and normal tissues were studied by FISH. KS was found in 15% of the cases, demonstrating that this constitutive aneuploidy may be related to carcinogenesis. When tumor and non-tumor tissues were compared, statistically significant X and Y chromosome polyploidies in tumors were revealed. These results emphasize that aneuploidies are involved in ICGCT tumorigenesis.

Copyright © 2008 S. Karger AG, Basel

  Author Contacts

Request reprints from Gloria Queipo, Department of Genetics
Hospital General de México-Facultad de Medicina
UNAM. Dr. Balmis 148 Col. Doctores CP 06726, México City (México)
telephone and fax: +52 5105 1035 0612
e-mail: skofman@servidor.unam.mx

  Article Information

This work was supported by DGAPA grant number IN225706-3, the Research Division of the Hospital General de México, CONACYT grant number 45209-M, and Universidad Nacional Autónoma de México grant number SDELPTID051.

Accepted in revised form for publication by A. Geurts van Kessel,: 18 February 2008.
Published online: August 28, 2008
Number of Print Pages : 4
Number of Figures : 1, Number of Tables : 1, Number of References : 32