Germline BRCA2 pathogenic variants in pediatric ganglioglioma: Case report and review of the literature

被引：0
作者：
Gupta, Anya [1 ]
Lechpammer, Mirna [2 ]
Brossier, Nicole M. [1 ]
机构：
[1] Washington Univ, Sch Med, Dept Pediat, Box 8208,660 South Euclid Ave, St Louis, MO 63110 USA
[2] Fdn One Med, Cambridge, MA USA
来源：
CHILDS NERVOUS SYSTEM | 2024年 / 40卷 / 05期
关键词：
Ganglioglioma; Pediatric; BRCA2; Germline pathogenic variant; Tumor suppressor gene; CANCER; MUTATIONS; GENE; MALIGNANCIES; TUMORS; CELLS;
D O I：
10.1007/s00381-023-06267-7
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Background BRCA1 and BRCA2 are tumor suppressor genes associated with increased risk of breast and ovarian cancer in adulthood. Patients with germline pathogenic variants in these genes have also been reported to develop brain tumors, although it is unclear whether these syndromes are associated with significant increased risk of brain tumor formation.Results Here, we report a case of a child with germline BRCA2 pathogenic variant presenting with a symptomatic ganglioglioma. To our knowledge, this is the first such patient to be reported. We discuss prior cases of brain tumors in BRCA1/2 patients and evidence for a potential role for BRCA1/2 pathogenic variants in brain tumor formation.Conclusion BRCA2 germline variants may increase the risk of developing some types of pediatric brain tumors, but further study is needed to determine its effect on low-grade glioma formation.
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页码：1609 / 1612
页数：4
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