Mutational analysis of hSNF5/INI1 and TP53 genes in choroid plexus carcinomas.

作者信息

Zakrzewska Magdalena, Wojcik Izabela, Zakrzewski Krzysztof, Polis Lech, Grajkowska Wieslawa, Roszkowski Marcin, Augelli Brian J, Liberski Pawel P, Rieske Piotr

机构信息

Department of Molecular Pathology and Neuropathology, Chair of Oncology, Medical University of Lodz, Czechoslowacka 8/10, 92-216 Lodz, Poland.

出版信息

Cancer Genet Cytogenet. 2005 Jan 15;156(2):179-82. doi: 10.1016/j.cancergencyto.2004.05.002.

DOI:10.1016/j.cancergencyto.2004.05.002

PMID:15642401

Abstract

We report here the mutational analysis of hSNF5/INI1 and TP53 genes performed on 11 specimens of choroid plexus carcinomas (CPC) in which a large number of abnormalities has been detected by molecular biology techniques. Loss of heterozygosity (LOH) analysis performed on six tumors revealed losses on chromosomes 1, 3, 5, 9, 10, 13, 16, 18, and 22. However, there were no abnormalities on 17p and mutations of the TP53 gene have been observed for two tumors comprising exons 5 and 7, respectively. Exon 4 of hSNF5/INI1 was mutated in one tumor with LOH restricted to the hSNF5/INI1 locus. There was no coexistence of mutations in both analyzed genes. Our analysis confirms the presence of the hSNF5/INI1 mutations and proves involvement of TP53 mutations in sporadic cases of CPC.

摘要