Department of Radiology, The Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, China International Science and Technology Cooperation Base of Child development and Critical Disorders, Chongqing, China.
Department of Pathology, Chongqing Medical University, Chongqing, China.
Childs Nerv Syst. 2022 Feb;38(2):279-285. doi: 10.1007/s00381-021-05426-y. Epub 2022 Jan 3.
Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare mixed neuronal-glial tumor of central nervous system. Chromosome microarray usually identifies co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19 as well as fusion of the KIAA1549 and BRAF genes.
We describe a case of a 3-year-old boy with typical imaging and histopathological features, but without KIAA1549-BRAF fusion and 1p deletion. Additionally, a literature review is performed summarizing the clinical features, management, and prognosis of this rare entity.
A 3-year-old boy presented with chronic headache and vomiting. On initial MRI scanning, diffuse thickening with enhancement of the cerebral and spinal leptomeninges could be detected after contrast injection. Multiple cystic lesions were found located on infratentorial leptomeninges, with progressive thickening of leptomeninges and increasing cysts on follow-up MRI after 9 months. Meningeal biopsy was carried out, showing that most of tumor cells were composed of oligodendroglioma-like cells. The tumor cells were immunopositive for GFAP, Olig-2, and synaptophysin but negative for IDH-1 and H3k27M. Molecular genetic testing did not detect KIAA1549-BRAF fusion, 1p deletion, or 1p/19q co-deletion. The patient was finally diagnosed as DLGNT after multidisciplinary team consultation.
Given that the clinical and pathological mechanism of DLGNTs remains unclear, our case gives supplement about the diversity of molecular genetic characteristics. Combination of clinical, neuroradiological, and histopathological data is particularly important for the diagnosis of DLGNTs, till now.
弥漫性软脑膜胶质神经元肿瘤（DLGNT）是一种罕见的中枢神经系统混合性神经元-神经胶质肿瘤。染色体微阵列通常会发现 1 号染色体短臂和 19 号染色体长臂的共同缺失，以及 KIAA1549 和 BRAF 基因的融合。
我们描述了一例 3 岁男孩的典型影像学和组织病理学特征，但没有 KIAA1549-BRAF 融合和 1p 缺失。此外，还进行了文献复习，总结了这种罕见实体的临床特征、治疗和预后。
一名 3 岁男孩因慢性头痛和呕吐就诊。初次 MRI 扫描显示，注入造影剂后可检测到脑和脊髓软脑膜弥漫性增厚伴强化。在下脑室外侧软脑膜可见多个囊性病变，9 个月后随访 MRI 显示软脑膜增厚和囊肿增多。脑膜活检显示，大多数肿瘤细胞由少突胶质细胞瘤样细胞组成。肿瘤细胞免疫组化 GFAP、Olig-2 和突触素阳性，但 IDH-1 和 H3k27M 阴性。分子遗传学检测未发现 KIAA1549-BRAF 融合、1p 缺失或 1p/19q 共缺失。多学科团队会诊后，该患者最终诊断为 DLGNT。
鉴于 DLGNTs 的临床和病理机制尚不清楚，我们的病例提供了关于分子遗传学特征多样性的补充信息。目前，结合临床、神经影像学和组织病理学数据对 DLGNTs 的诊断尤为重要。
