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Updated: Jun 20, 2026
Processing of Primary Brain Tumor Tissue for Stem Cell Assays and Flow Sorting
Published on: September 25, 2012
BCL10 single nucleotide polymorphism and its association with CSF dissemination of primary intracranial germ cell
Yutaka Hayashi1, Takuya Watanabe, Mitsutoshi Nakada
1Department of Neurosurgery, Kanazawa University Hospital, Kanazawa, Japan. yuh@ns.m.kanazawa-u.ac.jp
Background:
Intracranial germ cell tumors (GCTs) are rare neoplasms. Little is known about the pathogenesis of these tumors. The BCL10 gene, a proapoptotic signaling molecule involved in the Apaf-1/caspase-9 cell death pathway, may act as a tumor suppressor gene in multiple types of tumors including testicular GCTs.
Methods:
To evaluate whether alterations in the BCL10 gene play a role in the genesis of intracranial GCTs, we analyzed the BCL10 gene in 10 pure germinomas (PGs) and 10 nongerminomatous GCTs.
Results:
We found no inactivating mutations; however, 5 of 10 PGs and 1 of 10 nongerminomatous GCTs manifested specific single nucleotide polymorphisms (SNPs) that carried an amino acid substitution at codon 5 in exon 1 or codon 162 in exon 3. This SNP occurs at higher frequency in patients with PGs than healthy individuals (p = 0.07). CSF dissemination occurred in 4 of our 6 patients manifesting SNP (p = 0.037).
Conclusions:
Our data suggest that this specific SNP in the BCL10 gene may be partly responsible for the tumorigenesis of PG in Japanese individuals, and may be associated with the aggressive nature of these tumors.
Insights
A specific BCL10 gene single nucleotide polymorphism (SNP) is linked to intracranial germinoma development in Japanese individuals. This BCL10 gene SNP may also indicate a more aggressive tumor nature.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Intracranial germ cell tumors (GCTs) are rare and their pathogenesis is poorly understood.
- The BCL10 gene, involved in apoptosis, may function as a tumor suppressor.
- BCL10's role in intracranial GCTs has not been previously investigated.
Purpose of the Study:
- To investigate the role of BCL10 gene alterations in the development of intracranial GCTs.
- To determine if specific BCL10 gene variations are associated with intracranial germinoma.
Main Methods:
- Analysis of the BCL10 gene in 10 pure germinomas (PGs) and 10 nongerminomatous GCTs.
- Identification of single nucleotide polymorphisms (SNPs) and mutations.
- Correlation of BCL10 gene findings with clinical data, including cerebrospinal fluid (CSF) dissemination.
Main Results:
- No inactivating BCL10 gene mutations were found.
- Specific single nucleotide polymorphisms (SNPs) with amino acid substitutions were identified in 5/10 PGs and 1/10 nongerminomatous GCTs.
- The BCL10 gene SNP occurred more frequently in PG patients than healthy individuals and was associated with CSF dissemination.
Conclusions:
- A specific BCL10 gene SNP may contribute to the tumorigenesis of pure germinomas in Japanese patients.
- This BCL10 gene SNP might be linked to the aggressive behavior of intracranial germinomas.
- Further research is warranted to elucidate the precise role of BCL10 in GCT development.
