Dutta Rimlee, Sharma Mehar Chand, Suri Vaishali, Sarkar Chitra, Garg Ajay, Suri Ashish, Kale Shashank Sharad
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
World Neurosurg. 2022 Mar;159:e62-e69. doi: 10.1016/j.wneu.2021.11.125. Epub 2021 Dec 3.
Subependymal giant cell astrocytoma (SEGA) is a World Health Organization grade 1 neoplasm, which, due to its dubious morphologic features, may be misdiagnosed as a high-grade tumor at times. This tumor shows binary immunoexpression including both glial and neural markers, leading to a state of diagnostic quandary. Recent evidences have surmised the diagnostic utility of thyroid transcription factor 1 (TTF-1), spurring us to study the practicality of this marker in distinguishing SEGAs from its mimics.
In this study, TTF-1 immunohistochemistry using clone 8G7G3/1 (1:50) was performed in 38 cases of SEGA, 30 cases of central neurocytoma, 10 cases each of intraventricular glioblastoma and ependymoma, and 5 cases of cortical tubers. Additionally, serine/threonine-protein kinase B-Raf (BRAFV600E) mutation, a common genetic alteration in pediatric low-grade-glial tumors with neuronal-differentiation, was analyzed using Ventana immunohistochemistry platform.
TTF-1 immunopositivity was seen in all 38 cases (100%) of SEGAs, with 20 cases (52.6%) showing diffuse (>50% of tumor area) expression while focal (<50%) immunopositivity was seen in 18 cases (47.3%). None of the cases demonstrated serine/threonine-protein kinase B-Raf immunolabeling. Barring 2 cases of neurocytoma (6.6%), all other cases including ependymoma, glioblastoma, and cortical tubers were immunonegative for TTF-1.
The congruous finding of TTF-1 expression in SEGA and cells of the developing neuroepithelium in the medial ganglionic eminence hint toward a primogenitor cell with neoplastic potential in the presence of impelling factors.
室管膜下巨细胞星形细胞瘤(SEGA)是世界卫生组织一级肿瘤,因其形态学特征不明确,有时可能被误诊为高级别肿瘤。该肿瘤表现出双相免疫表达,包括神经胶质和神经标志物,导致诊断陷入困境。最近的证据推测了甲状腺转录因子1(TTF-1)的诊断效用,促使我们研究该标志物在鉴别SEGA与其相似肿瘤中的实用性。
在本研究中,对38例SEGA、30例中枢神经细胞瘤、10例脑室管膜瘤和10例室管膜瘤以及5例皮质结节进行了使用克隆8G7G3/1(1:50)的TTF-1免疫组织化学检测。此外,使用Ventana免疫组织化学平台分析了丝氨酸/苏氨酸蛋白激酶B-Raf(BRAFV600E)突变,这是小儿低级别神经胶质肿瘤伴神经元分化中常见的基因改变。
38例SEGA均可见TTF-1免疫阳性(100%),其中20例(52.6%)表现为弥漫性(>肿瘤面积的50%)表达,18例(47.3%)表现为局灶性(<50%)免疫阳性。所有病例均未显示丝氨酸/苏氨酸蛋白激酶B-Raf免疫标记。除2例神经细胞瘤(6.6%)外,所有其他病例包括室管膜瘤、胶质母细胞瘤和皮质结节TTF-1均为免疫阴性。
SEGA中TTF-1表达与内侧神经节隆起发育中的神经上皮细胞一致,提示在促发因素存在的情况下具有肿瘤形成潜能的原始祖细胞。