Concurrent high-grade glioma with cavernous malformations and pathogenic variants in PDCD10 and SMARCA4

被引：0
|
作者：
Glanz, Hannah [1 ]
Damodharan, Sudarshawn N. [2 ]
Smith-Simmer, Kelcy [3 ]
Helgager, Jeffrey [4 ]
Puccetti, Diane [2 ]
机构：
[1] Univ Wisconsin, Sch Med & Publ Hlth, Dept Pediat, Madison, WI USA
[2] Univ Wisconsin, UW Carbone Canc Ctr, Sch Med & Publ Hlth, Dept Pediat,Div Pediat Hemat Oncol & Bone Marrow T, 600 Highland Ave, Madison, WI 53792 USA
[3] Univ Wisconsin, UW Carbone Canc Ctr, Sch Med & Publ Hlth, Dept Pediat,Genet Counselor Studies, Madison, WI USA
[4] Univ Wisconsin, Sch Med & Publ Hlth, Dept Pathol, Madison, WI USA
来源：
CHILDS NERVOUS SYSTEM | 2023年 / 39卷 / 11期
关键词：
High-grade glioma; IDH1; Cavernous malformations; SMARCA4; Genetic variants; GLIOBLASTOMA-MULTIFORME;
D O I：
10.1007/s00381-023-06026-8
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The co-occurrence of multiple disease processes can pose diagnostic challenges. We report an unusual case of a patient found to have co-occurrences of an IDH1-mutant high-grade glioma along with cerebral cavernous malformations and pathogenic germline variants in PDCD10 and SMARCA4. Somatic testing was done on the tumor and identified a SMARCA4 and two TP53 variants. Within the literature, little is known about the association of high-grade gliomas with these germline variants. Such findings furthermore not only inform complex diagnoses, but have the potential to play a crucial role in the ongoing care of a patient.
引用
收藏
页码：3311 / 3315
页数：5
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