Cargando…

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

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 releva...

Descripción completa

Detalles Bibliográficos
Autores principales: Zheng, Xuan, Guo, Shaolei, Liu, Dawei, Chu, Jianping, Li, Yongfu, Wang, Xiaoxuan, Zhang, Xing, Song, Chao, Huang, Quan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719181/
https://www.ncbi.nlm.nih.gov/pubmed/36463108
http://dx.doi.org/10.1186/s12887-022-03747-8
Descripción
Sumario: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.