Spontaneous regression of epileptogenic pilocytic astrocytoma with FGFR1-TACC1 fusion.

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Child's Nervous System Pub Date : 2025-03-14 DOI:10.1007/s00381-025-06789-2

Ko Horikoshi, Yasushi Iimura, Hiroharu Suzuki, Mario Suzuki, Hidenori Sugano, Akihide Kondo

{"title":"Spontaneous regression of epileptogenic pilocytic astrocytoma with FGFR1-TACC1 fusion.","authors":"Ko Horikoshi, Yasushi Iimura, Hiroharu Suzuki, Mario Suzuki, Hidenori Sugano, Akihide Kondo","doi":"10.1007/s00381-025-06789-2","DOIUrl":null,"url":null,"abstract":"Introduction: Pilocytic astrocytoma (PA) is the most common pediatric tumor, typically located in the cerebellum, with spontaneous regression observed mainly in patients with neurofibromatosis type 1 (NF1). However, spontaneous regression of PA without NF1 is rarely reported.Case presentation: Here, we describe a case of spontaneous regression of PA without NF1, located in the left frontal lobe with FGFR1-TACC1 fusion, in a 14-year-old boy who presented with epilepsy. Initial MRI revealed a lesion in the left middle frontal gyrus, and subsequent follow-up MRI demonstrated spontaneous regression. Despite this regression, the patient's seizures persisted, leading to epileptic focus resection. Pathological examination confirmed PA with characteristic histological findings and FGFR1-TACC1 fusion.Conclusion: This case suggests that FGFR1-TACC1 fusion may be linked to spontaneous regression of PA, even in the absence of NF1. Surgical intervention may remain necessary in cases of epilepsy associated with PA, regardless of tumor regression.","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"129"},"PeriodicalIF":1.3000,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909081/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Child's Nervous System","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00381-025-06789-2","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: Pilocytic astrocytoma (PA) is the most common pediatric tumor, typically located in the cerebellum, with spontaneous regression observed mainly in patients with neurofibromatosis type 1 (NF1). However, spontaneous regression of PA without NF1 is rarely reported.

Case presentation: Here, we describe a case of spontaneous regression of PA without NF1, located in the left frontal lobe with FGFR1-TACC1 fusion, in a 14-year-old boy who presented with epilepsy. Initial MRI revealed a lesion in the left middle frontal gyrus, and subsequent follow-up MRI demonstrated spontaneous regression. Despite this regression, the patient's seizures persisted, leading to epileptic focus resection. Pathological examination confirmed PA with characteristic histological findings and FGFR1-TACC1 fusion.

Conclusion: This case suggests that FGFR1-TACC1 fusion may be linked to spontaneous regression of PA, even in the absence of NF1. Surgical intervention may remain necessary in cases of epilepsy associated with PA, regardless of tumor regression.

查看原文本刊更多论文

融合 FGFR1-TACC1 的致痫性良性星形细胞瘤自发消退

毛细胞星形细胞瘤（PA）是儿童最常见的肿瘤，通常位于小脑，自发性消退主要见于1型神经纤维瘤病（NF1）患者。然而，没有NF1的PA自发消退的报道很少。病例介绍：在这里，我们描述了一个14岁的男孩，他患有癫痫，没有NF1的自发性PA消退，位于左额叶，伴有FGFR1-TACC1融合。最初的MRI显示左侧额叶中回病变，随后的MRI显示自发消退。尽管这种消退，患者的癫痫发作持续，导致癫痫灶切除。病理检查证实PA具有特征性组织学表现和FGFR1-TACC1融合。结论：该病例提示，即使在NF1缺失的情况下，FGFR1-TACC1融合也可能与PA的自发消退有关。手术干预可能仍然是必要的癫痫与PA的情况下，不管肿瘤消退。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Child's Nervous System 医学-临床神经学

CiteScore

3.00

自引率

7.10%

发文量

322

审稿时长

3 months

期刊介绍： The journal has been expanded to encompass all aspects of pediatric neurosciences concerning the developmental and acquired abnormalities of the nervous system and its coverings, functional disorders, epilepsy, spasticity, basic and clinical neuro-oncology, rehabilitation and trauma. Global pediatric neurosurgery is an additional field of interest that will be considered for publication in the journal.