Cambruzzi Eduardo, Medeiros Mateus Scarabelot, Cardoso Carmo Eduardo, Silva Guilherme Alberto Germano, Schlotte Kelly, Kus Willian Pegoraro
Federal University of Rio Grande Do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Department of Pathology, Santa Rita Hospital, Santa Casa Hospital Complex, Rua Sarmento Leite, 187, 2° andar, Porto Alegre, Rio Grande do Sul, Brazil.
Childs Nerv Syst. 2023 Jan;39(1):301-305. doi: 10.1007/s00381-022-05625-1. Epub 2022 Aug 3.
Diffuse leptomeningeal glioneuronal tumors (DLGNTs) are rare central nervous system tumors of childhood that were recently described as a new entity. DLGNTs usually manifest with symptoms related to increased intracranial pressure or spinal cord compression. The classic radiological feature is a widespread leptomeningeal enhancement that may involve the entire neuroaxis. Microscopic examination demonstrates oligodendroglial-like cells that are positive for OLIG2, MAP2, and S100 and negative for IDH-1. Anaplastic features occur in some cases. Molecularly, DLGNTs are characterized by chromosome arm 1p deletion and alteration of a mitogen-activated protein kinase (MAPK) pathway gene, most commonly BRAF-KIAA1549 fusion. There is no established grading system for these tumors, which may have an indolent or aggressive behavior. Treatment usually involves chemotherapy and radiation therapy.
弥漫性软脑膜神经胶质瘤（DLGNTs）是儿童期罕见的中枢神经系统肿瘤，最近被描述为一种新的实体。DLGNTs通常表现为与颅内压升高或脊髓压迫相关的症状。典型的放射学特征是广泛的软脑膜强化，可累及整个神经轴。显微镜检查显示少突胶质细胞样细胞，其OLIG2、MAP2和S100呈阳性，IDH-1呈阴性。部分病例出现间变特征。在分子水平上，DLGNTs的特征是1号染色体臂缺失和丝裂原活化蛋白激酶（MAPK）途径基因改变，最常见的是BRAF-KIAA1549融合。这些肿瘤尚无既定的分级系统，其行为可能是惰性的或侵袭性的。治疗通常包括化疗和放疗。
