Mutational analysis of hSNF5/INI1 and TP53 genes in choroid plexus carcinomas.
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.
Zakrzewska
Magdalena
M
Department of Molecular Pathology and Neuropathology, Chair of Oncology, Medical University of Lodz, Czechoslowacka 8/10, 92-216 Lodz, Poland. madziazakrzewska@wp.pl
Wojcik
Izabela
I
Zakrzewski
Krzysztof
K
Polis
Lech
L
Grajkowska
Wieslawa
W
Roszkowski
Marcin
M
Augelli
Brian J
BJ
Liberski
Pawel P
PP
Rieske
Piotr
P
D001483:Base Sequence; D002648:Child; D016545:Choroid Plexus Neoplasms / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D016133:Polymerase Chain Reaction; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000235:genetics*
D002868:Chromosomal Proteins, Non-Histone; D017931:DNA Primers; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors