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Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review

Authors :
Xuan Zheng
Shaolei Guo
Dawei Liu
Jianping Chu
Yongfu Li
Xiaoxuan Wang
Xing Zhang
Chao Song
Quan Huang
Source :
BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)
Publication Year :
2022
Publisher :
BMC, 2022.

Abstract

Abstract Background Pediatric meningioma with YAP1 fusion is a rare subset of meningiomas. Currently, there are lack of integrated clinical, radiological, and pathological features on this subset. Here, we reported a case of pediatric meningioma with a novel MAML2-YAP1 fusion variant and reviewed the relevant literature. Case presentation We presented a case of 12-year-old boy with meningioma adjacent to the superior sagittal sinus and falx. Simpson grade II gross total resection was performed after diagnosis. Pathologically, he was diagnosed as WHO grade I meningothelial meningioma with rhabdoid features. A next-generation sequencing-based gene panel was performed to determine the molecular features for potential treatment, and a novel MAML2 - YAP1 fusion break point was identified. Conclusion Pediatric meningioma with the fusion of YAP1 and MAML2 genes is more likely to have pathological features of rhabdiod cells, which needs to be validated in large-scale studies for exploring better treatment under the integrated diagnosis.

Details

Language :
English
ISSN :
14712431
Volume :
22
Issue :
1
Database :
Directory of Open Access Journals
Journal :
BMC Pediatrics
Publication Type :
Academic Journal
Accession number :
edsdoj.67792350f12b43abb0e2e7366b714387
Document Type :
article
Full Text :
https://doi.org/10.1186/s12887-022-03747-8