IllnessGlioma, glioblastoma

NGS +

Gliomas are solid tumors of the central nervous system that arise from glial cells, astrocytes, oligodendrocytes as well as ependymal cells, whose histological features they exhibit. According to the WHO classification, gliomas are broadly divided into four categories based on their histological features, grade I to grade IV (glioblastoma). The risk of developing glioma is consistently increased in first-degree relatives of glioma patients and other primary brain tumors, but susceptibility to glioma is genetically heterogeneous. A small percentage of all gliomas can be explained by some rare mendelian cancer predisposition syndromes (Li-Fraumeni syndrome, neurofibromatosis, etc.), and several additional germline loci such as the EGFR gene contribute to the individual risk for tumor development. Numerous EGFR gene alterations have been detected in gliomas, and a wide variety of amplifications, deletions and point mutations are observed, particularly in glioblastomas. In this molecular genetic context, glioblastomas are discussed as a distinct entity due to their high correlation with EGFR mutants and the intensively discussed association of the latter with survival and response to treatment. While somatic EGFR mutations clearly predominate, gliomas can occasionally be inherited in an autosomal dominant manner. Therefore, the DNA diagnostic yield in the germline is low, and a negative test result may not exclude the clinical diagnosis.

Reference: https://pubmed.ncbi.nlm.nih.gov/31968687/

• Alias: Glioblastoma [multiforme] (EGFR)
• Allelic: Adenocarcinoma of lung, response to tyrosine kinase inhibitor in (EGFR)
• Allelic: Inflammatory skin and bowel disease, neonatal, 2 (EGFR)
• Allelic: Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in (EGFR)
• Allelic: Nonsmall cell lung cancer, susceptibility to (EGFR)
• DD Glioma: astrocytoma, glioblastoma multiforme, oligodendroglioma, ependymoma, subependymoma (EGFR)