Case report: Germline mutation is associated with a giant cell glioblastoma.

Giant cell glioblastoma often exhibits genome instability and is frequently associated with mutations in genes involved in DNA repair pathways including and DNA mismatch repair genes. Several germline mutations have been identified in giant cell glioblastoma, including mutations of and , , and . We have documented a case of a germline mutation in , another gene crucial to DNA repair, in a patient with giant cell glioblastoma. The mutation was inherited from the patient's father, who had a history of gastric cancer and renal cell carcinoma. In addition to the germline mutation, the giant cell glioblastoma exhibited a genome-wide loss of heterozygosity, a characteristic observed in a subset of giant cell glioblastomas. Additional mutations detected in the tumor included , and a fusion. This represents the first reported case of a germline mutation in giant cell glioblastoma, further supporting the significance of impaired DNA repair mechanisms in the development of this disease.