دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review
المؤلفون: Xuan Zheng, Shaolei Guo, Dawei Liu, Jianping Chu, Yongfu Li, Xiaoxuan Wang, Xing Zhang, Chao Song, Quan Huang
المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)
بيانات النشر: BMC, 2022.
سنة النشر: 2022
المجموعة: LCC:Pediatrics
مصطلحات موضوعية: Pediatric meningioma, YAP1, MAML2, Gene fusion, Next-generation sequencing, Pediatrics, RJ1-570
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1471-2431
العلاقة: https://doaj.org/toc/1471-2431Test
DOI: 10.1186/s12887-022-03747-8
الوصول الحر: https://doaj.org/article/67792350f12b43abb0e2e7366b714387Test
رقم الانضمام: edsdoj.67792350f12b43abb0e2e7366b714387
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:14712431
DOI:10.1186/s12887-022-03747-8