Genetic mutations in high grade gliomas of the adult spinal cord

• Published in: Brain tumor pathology 2016-10, Vol.33 (4), p.267-269
• Main Authors: Nagaishi, Masaya, Nobusawa, Sumihito, Yokoo, Hideaki, Sugiura, Yoshiki, Tsuda, Kyoji, Tanaka, Yoshihiro, Suzuki, Kensuke, Hyodo, Akio
• Format: Article
• Language: English
• Subjects: Age; Aged; Biopsy; Brain cancer; Cancer Research; DNA methylation; Epigenetics; Female; Females; Genes; Genetic Association Studies; Glioma - genetics; Glioma - pathology; Histones - genetics; Humans; Investigations; Isocitrate Dehydrogenase - genetics; Letter to the Editor; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Mutation - genetics; Neoplasm Grading; Neoplasm Staging; Nervous system; Neurology; Neurosurgery; Oncology; Pathology; Pediatrics; Radiation therapy; Spinal cord; Spinal Cord Neoplasms - genetics; Spinal Cord Neoplasms - pathology; Tumors; Young adults
• ISSN: 1433-7398; 1861-387X
• DOI: 10.1007/s10014-016-0263-7

In a previous study, the comprehensive analysis of DNA methylation and gene expression in H3F3A K27 M mutated tumors identified not only a significantly lower expression of FOXG1 but also a significantly higher expression of Olig2 [3]. An age-specific summary of publications investigating H3F3A K27 M mutation in spinal high grade gliomas Age ≥ 20 (n = 18) Age ≤ 19 (n = 24) Sex ratio 2 (male = 12, female = 6) 1.4 (male = 14, female = 10) Diagnosis GBM 12/18 (67 %) 16/24 (67 %) AA 5/18 (28 %) 7/24 (29 %) AGG 1/18 (6 %) 1/24 (4 %) Location Cervical 6/16 (38 %) 8/20 (40 %) Thoracic 8/16 (50 %) 12/20 (60 %) Lumbar 1/16 (12 %) 0/20 (0 %) Sacral 1/16 (12 %) 0/20 (0 %) H3F3A K27 M mutation 11/18 (61 %) 13/24 (54 %) Expression of p53 4/7 (57 %) 2/5 (40 %) Loss of ATRX 3/7 (43 %) 0/5 (0 %) IDH1 mutation 0/6 (0 %) 0/2 (0 %) AA anaplastic astrocytoma, AGG anaplastic ganglioglioma, GBM glioblastoma Among several studies investigating diffuse astrocytoma, NOS of the spinal cord, only one of nine cases (11 %) exhibited H3F3A K27 M mutation [10]. The histopathological analysis of spinal gliomas, which may be compromised by resection from the peripheral tumor area and the small size of the surgical specimen that can be obtained, often leads to misdiagnosis or inappropriate grading against the WHO classification system. The molecular analysis thus enables a consistent diagnosis for spinal cord gliomas in adults, permitting more accurate prediction of clinical courses.