病例报告：婴儿型半球胶质瘤中的ATIC-ALK融合及对劳拉替尼的反应
Case report: ATIC-ALK fusion in infant-type hemispheric glioma and response to lorlatinib.
作者信息
Shahab Shubin W, Schniederjan Matthew, Vega Jose Velazquez, Little Stephen, Reisner Andrew, MacDonald Tobey, Aguilera Dolly
机构信息
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA, United States.
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, United States.
出版信息
Front Oncol. 2023 Feb 24;13:1123378. doi: 10.3389/fonc.2023.1123378. eCollection 2023.
INTRODUCTION
Infant type hemispheric gliomas are a rare tumor with unique molecular characteristics. In many cases these harbor mutations in receptor tyrosine kinase pathways and respond to targeted therapy. Here we describe the case of an infant with this type of tumor with a novel ATIC-ALK fusion that has responded dramatically to the ALK inhibitor lorlatinib, despite being refractory to standard chemotherapy.
CASE DESCRIPTION
The infant was initially treated with standard chemotherapy and found to have an ATIC-ALK fusion. When surveillance imaging revealed progressive disease, the patient was switched to the ALK-inhibitor lorlatinib at 47 mg/m/day. The patient demonstrated a significant clinical and radiographic response to the ALK inhibitor lorlatinib after just 3 months of treatment and a near complete response by 6 months of therapy.
CONCLUSION
The ALK inhibitor lorlatinib is an effective targeted therapy in infant type hemispheric glioma patients harboring ATIC-ALK fusion.
引言
婴儿型半球胶质瘤是一种具有独特分子特征的罕见肿瘤。在许多情况下，这些肿瘤存在受体酪氨酸激酶途径的突变，并对靶向治疗有反应。在此，我们描述了一例患有这种类型肿瘤的婴儿，其具有一种新型的ATIC-ALK融合基因，尽管对标准化疗耐药，但对ALK抑制剂劳拉替尼有显著反应。
病例描述
该婴儿最初接受标准化疗，发现存在ATIC-ALK融合基因。当监测影像显示疾病进展时，患者改用ALK抑制剂劳拉替尼，剂量为47毫克/平方米/天。治疗仅3个月后，患者对ALK抑制剂劳拉替尼表现出显著的临床和影像学反应，治疗6个月时接近完全缓解。
结论
ALK抑制剂劳拉替尼对携带ATIC-ALK融合基因的婴儿型半球胶质瘤患者是一种有效的靶向治疗药物。
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