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- Title
Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.
- Authors
Sloan, Emily A.; Hilz, Stephanie; Gupta, Rohit; Cadwell, Cathryn; Ramani, Biswarathan; Hofmann, Jeffrey; Kline, Cassie N.; Banerjee, Anu; Reddy, Alyssa; Oberheim Bush, Nancy Ann; Chang, Susan; Braunstein, Steve; Chang, Edward F.; Raffel, Corey; Gupta, Nalin; Sun, Peter P.; Kim, John Y.H.; Moes, Gregory; Alva, Elizabeth; Li, Rong
- Abstract
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant tumor predisposition syndrome caused by heterozygous germline mutation or deletion of the I TP53 i tumor suppressor gene on chromosome 17p13. This absence of I ATRX i loss in patient LF-7 (10 years of age at time of glioma diagnosis) is similar to what has been previously reported in sporadic IDH-mutant astrocytomas in teenagers which lack the I ATRX i inactivation that is typical of their IDH-mutant astrocytoma counterparts in adults [[3], [7]]. Instead, five of the tumors harbored somatic biallelic inactivation of the I NF1 i tumor suppressor gene and one harbored multiple I EGFR i activating missense mutations (p.L861Q and p.R252P) in the absence of I EGFR i gene amplification (Supplementary Table 2).
- Subjects
LI-Fraumeni syndrome; SOMATIC mutation; GLIOMAS; BRAIN tumors; GENE amplification; GLIOBLASTOMA multiforme; DELETION mutation
- Publication
Acta Neuropathologica, 2020, Vol 139, Issue 5, p953
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-020-02144-8