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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...

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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
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author Zheng, Xuan
Guo, Shaolei
Liu, Dawei
Chu, Jianping
Li, Yongfu
Wang, Xiaoxuan
Zhang, Xing
Song, Chao
Huang, Quan
author_facet Zheng, Xuan
Guo, Shaolei
Liu, Dawei
Chu, Jianping
Li, Yongfu
Wang, Xiaoxuan
Zhang, Xing
Song, Chao
Huang, Quan
author_sort Zheng, Xuan
collection PubMed
description 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.
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spelling pubmed-97191812022-12-04 Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review Zheng, Xuan Guo, Shaolei Liu, Dawei Chu, Jianping Li, Yongfu Wang, Xiaoxuan Zhang, Xing Song, Chao Huang, Quan BMC Pediatr Case Report 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. BioMed Central 2022-12-03 /pmc/articles/PMC9719181/ /pubmed/36463108 http://dx.doi.org/10.1186/s12887-022-03747-8 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Zheng, Xuan
Guo, Shaolei
Liu, Dawei
Chu, Jianping
Li, Yongfu
Wang, Xiaoxuan
Zhang, Xing
Song, Chao
Huang, Quan
Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review
title Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review
title_full Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review
title_fullStr Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review
title_full_unstemmed Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review
title_short Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review
title_sort pediatric meningioma with a novel maml2-yap1 fusion variant: a case report and literature review
topic Case Report
url 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
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