Du Jiang, Wang Junmei, Cui Yun, Zhang Cuiping, Li Guilin, Fang Jingyi, Yue Shenglin, Xu Li
Department of Neuropathology, Beijing Neurosurgical Institute, Capital Medical University, China National Clinical Research Center for Neurological Diseases, NCRC-ND, Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing Key Laboratory of Brian Tumor, Beijing, China.
Department of Electron Microscopy, Beijing Neurosurgical Institute, Capital Medical University, China National Clinical Research Center for Neurological Diseases, NCRC-ND, Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing Key Laboratory of Brian Tumor, Beijing, China.
Neuropathology. 2015 Oct;35(5):410-20. doi: 10.1111/neup.12200. Epub 2015 May 6.
We investigated the clinicopathologic features and immunophenotypes of 10 cases of endolymphatic sac tumor (ELST) and compared them with other papillary tumors, including eight cases of choroid plexus papilloma (CPP), three cases of atypical choroid plexus papilloma (ACPP), two cases of papillary ependymoma (PE), three cases of papillary meningioma (PM) and two cases of metastatic carcinoma (MC) the at cerebellopontine angle (CPA). The age at onset of ELST ranged from 13 to 39 years. The male-to-female ratio was 1:1. The clinical presentations were primarily ear-related symptoms. The temporal bones showed extensive destruction. Histologically, the important characteristics for differential diagnosis with CPP, which is most similar to ELST, include the quantity of blood vessels, the nuclei location at apical surface of the papillary, clear cytoplasm cells sometimes with visible vacuoles, psammoma bodies and dura or bone invasion. Immunohistochemistry stains for AE1/AE3, cytokeratin CK)5/6, epithelial membrane antigen, CK8/18, S-100, and synaptophysin are helpful in diagnosis of ELST. In ELST, ultrastructure of uniform 2 μm vesicles in cytoplasm was seen, and gene analysis also showed missense mutation in exon 3. This study indicates that the above histological features combined with immunohistochemistry findings are important for making the correct diagnosis. Gene analysis should be used in patients without medical history to exclude von Hippel-Lindau disease.
我们研究了10例内淋巴囊肿瘤（ELST）的临床病理特征和免疫表型，并将其与其他乳头状肿瘤进行比较，包括8例脉络丛乳头状瘤（CPP）、3例非典型脉络丛乳头状瘤（ACPP）、2例乳头状室管膜瘤（PE）、3例乳头状脑膜瘤（PM）以及2例桥小脑角（CPA）转移癌（MC）。ELST的发病年龄为13至39岁。男女比例为1:1。临床表现主要为耳部相关症状。颞骨显示广泛破坏。组织学上，与ELST最相似的CPP进行鉴别诊断的重要特征包括血管数量、乳头顶端表面细胞核位置、有时可见空泡的透明细胞质细胞、砂粒体以及硬脑膜或骨质侵犯。AE1/AE3、细胞角蛋白CK5/6、上皮膜抗原、CK8/18、S-100和突触素的免疫组化染色有助于ELST的诊断。在ELST中，可见细胞质内均匀2μm小泡的超微结构，基因分析还显示外显子3存在错义突变。本研究表明，上述组织学特征结合免疫组化结果对于做出正确诊断很重要。对于无病史的患者应进行基因分析以排除冯·希佩尔-林道病。
