Genetic alterations of E-cadherin and beta-catenin in germinoma and teratoma: report of two central nervous system cases.

The genetic basis as well as mechanisms of development of germ cell tumors of the CNS are still unexplained. In the present article changes of Ecadherin (CDH1) and beta-catenin (CTNNB1) genes in two CNS germ cell tumors are reported. Both gene products are components of adherens junctions, but are also involved in the Wnt signaling pathway. A case of germinoma of the central nervous system and a case of spinal channel teratoma were tested for loss of heterozygosity (LOH) of E-cadherin gene by PCR amplification of tetranucleotide polymorphism (D16S752). Changes of beta-catenin were tested by heteroduplex method. Both germ cell tumors analyzed demonstrated LOH of the CDH1 gene. Analysis of exon 3 of the CTNNB1 gene showed additional band in the germinoma, suggesting that this sample harbors mutation in the beta-catenin gene. Immunostaining showed that LOHs in our samples were accompanied with the absence of E-cadherin protein. We also investigated E-cadherin expression in four other germinomas, of which three were negative and one was mildly positive. Our findings may contribute to better understanding of the genetic profile of germ cell tumors.