A Case Report of Infant-Type Hemispheric Glioma with a Novel GAB1-ABL2 Kinase Fusion Treated with Dasatinib.

IF 0.9 4区 医学 Q4 CLINICAL NEUROLOGY Pediatric Neurosurgery Pub Date : 2024-01-01 Epub Date: 2023-12-18 DOI:10.1159/000535842
Emery Buckner-Wolfson, Geena Jung, Timothy Kim, Ryan Fatemi, Genesis Liriano, Nagma Dalvi, Mandana Behbahani, Steven Chin, Allison Martin, Andrew Kobets
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Abstract

Introduction: Infant-type hemispheric glioma (IHG) is a rare form of cancer that affects newborns and infants. It is classified as a pediatric-type high-grade glioma and typically harbors receptor tyrosine kinase (RTK) gene fusions. Here, we present the finding of a novel gene fusion IHG treated with a targeted therapy that has yet to be implemented for any other IHG case to date.

Case presentation: We report the case of a 12-month-old boy with IHG who presented with obstructive hydrocephalus due to a large mass in the right frontal lobe. The patient initially underwent mass resection, but subsequent imaging showed rapid interval progression of the residual tumor. Comprehensive molecular analysis of the tumor tissue revealed a novel GAB1-ABL2 gene fusion, and the patient was started on dasatinib, an ABL kinase inhibitor. Shortly after initiation of dasatinib treatment, there was a significant reduction in tumor size and enhancement, followed by stabilization of disease.

Discussion: The patient's robust response to treatment suggests that dasatinib is an effective targeted therapy for IHG harboring a GAB1-ABL2 gene fusion. This finding may inform future investigations into the disease processes of IHG and help guide the diagnosis and treatment of IHG in the absence of previously identified gene fusions, improving clinical management of this vulnerable patient population.

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达沙替尼治疗伴有新型 GAB1-ABL2 激酶融合的婴儿型大脑半球胶质瘤病例报告。
导言婴儿型大脑半球胶质瘤(IHG)是一种影响新生儿和婴儿的罕见癌症。它被归类为儿科型高级别胶质瘤,通常携带受体酪氨酸激酶(RTK)基因融合。在此,我们介绍了一种新型基因融合 IHG 病例,该病例采用的靶向疗法迄今为止尚未用于任何其他 IHG 病例:我们报告了一例 12 个月大的 IHG 男孩,他因右侧额叶巨大肿块而出现梗阻性脑积水。患者最初接受了肿块切除术,但随后的影像学检查显示,残留肿瘤的间隔进展迅速。肿瘤组织的综合分子分析显示存在新型 GAB1-ABL2 基因融合,患者开始服用 ABL 激酶抑制剂达沙替尼。开始达沙替尼治疗后不久,肿瘤体积明显缩小,肿瘤增大,随后病情趋于稳定:该患者对治疗的强烈反应表明,达沙替尼是治疗携带GAB1-ABL2基因融合的IHG的有效靶向疗法。这一发现可为今后研究IHG的疾病过程提供依据,并有助于指导在未发现基因融合的情况下对IHG的诊断和治疗,从而改善对这一易感患者群体的临床管理。
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来源期刊
Pediatric Neurosurgery
Pediatric Neurosurgery 医学-临床神经学
CiteScore
1.30
自引率
0.00%
发文量
45
审稿时长
>12 weeks
期刊介绍: Articles in ''Pediatric Neurosurgery'' strives to publish new information and observations in pediatric neurosurgery and the allied fields of neurology, neuroradiology and neuropathology as they relate to the etiology of neurologic diseases and the operative care of affected patients. In addition to experimental and clinical studies, the journal presents critical reviews which provide the reader with an update on selected topics as well as case histories and reports on advances in methodology and technique. This thought-provoking focus encourages dissemination of information from neurosurgeons and neuroscientists around the world that will be of interest to clinicians and researchers concerned with pediatric, congenital, and developmental diseases of the nervous system.
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