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Objective@#To analyze the clinicopathological characteristics and prognosis of diffuse midline glioma (DMG) with H3K27M mutation.@*Methods@#Thirty cases of DMG were collected in Guangdong Sanjiu Brain Hospital from October 2016 to May 2018. The patients′ clinicopathological data including age, tumor site and histological grade, treatment and follow-up data were collected and analyzed.@*Results@#There were 21 males and 9 females, with a mean age of 26 years (range 5-53 years). Fourteen tumors were located in thalamus, 12 in brainstem (one involved both thalamus and brainstem), and one each in hypothalamus, fourth ventricle, and sellar region, respectively. Two cases presented as diffuse intracranial lesions. Three cases (10.0%) were of WHO grade Ⅰ, 10 cases (33.3%) were grade Ⅱ, eight cases (26.7%) were grade Ⅲ, and nine cases (30.0%) were grade Ⅳ.All patients with gradeⅠ tumors were older than 20 years. Histologically, all were pilocytic astrocytoma-like. Immunohistochemical staining demonstrated that all tumors were IDH1 negative. Twenty-eight tumors showed diffuse expression of H3K27M, and two showed focal expression. Twenty-one tumors(100.0%, 21/21) showed absent expression of H3K27me3. Sixteen tumors (57.1%, 16/28) showed strongly positive expression of p53, and ATRX was negative in eight tumors (38.1%, 8/21). The Ki-67 proliferation index ranged from 5% to 40%. Eight cases (including two cases of H3K27M expression of individual cells) showed K27M mutation in H3F3A gene. Intracranial and spinal cord dissemination occurred in six cases (20.0%, 6/30). Median progression-free survival (PFS) was 9.5 months and median overall survival (OS) was 34 months. Mean PFS was 11.2 months and mean OS was 24.3 months. Compared with adults (>20 years old), children/adolescents (no more than 20 years old) had significantly shorter median OS (8 months vs. 34 months, P=0.013). There was no significant difference in PFS and OS between DMGs located in the brain stem/thalamus and other sites within midline (P>0.05). There was no significant difference in PFS and OS between WHO grade ⅠDMGs and WHO grade Ⅱ-Ⅳ DMGs (P>0.05).@*Conclusions@#DMGs occur more commonly in children and adolescents with male predominance. DMGs present with WHO Ⅰ-Ⅳ tumors morphologically, and pilocytic astrocytoma-like lesions with WHO Ⅰ are more common in adults. Expression of H3K27M but not H3K27me3 is helpful for diagnosis of DMG. The prognosis of children/adolescents is significantly worse than that of adults, whereas histological grade and tumor location do not affect prognosis.
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Objective To investigate the neuroimaging and pathological features of epithelioid glioblastoma (EGBM) to improve the diagnosis.Methods The clinical and pathological features of 4 E-GBM cases were analyzed retrospectively.Results E-GBMs occurred predominantly in young adults.MRI examination showed irregular solidcystic lesion with heterogeneous or ring enhancement in 4 cases.Histological examination revealed uniform population of epithelioid or rhabdoid cells with prominent nucleoli and mitotic activity as well as geographic necrosis..Immunohistochemical staining showed various positive signals of Vimentin and S-100 protein in 4 cases,positive signal of BRAF (VE1) in 3 cases and focal positive signal of GFAP in 1 case.However,IDH-1 was negative and 1p/19q codeletion was lack.All patients were followed-up for 2-6 months.One patient had tumor recurrence 3 months and one patient died of disease 6 months after surgical excision.Conclusion E-GBM has a poor outcome and is closely associated with pleomorphic xanthoastrocytoma.MRI and epithelioid histological features are very important for the differential diagnosis.
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Objective To investigate the neuroimaging and pathological features of epithelioid glioblastoma (EGBM) to improve the diagnosis.Methods The clinical and pathological features of 4 E-GBM cases were analyzed retrospectively.Results E-GBMs occurred predominantly in young adults.MRI examination showed irregular solidcystic lesion with heterogeneous or ring enhancement in 4 cases.Histological examination revealed uniform population of epithelioid or rhabdoid cells with prominent nucleoli and mitotic activity as well as geographic necrosis..Immunohistochemical staining showed various positive signals of Vimentin and S-100 protein in 4 cases,positive signal of BRAF (VE1) in 3 cases and focal positive signal of GFAP in 1 case.However,IDH-1 was negative and 1p/19q codeletion was lack.All patients were followed-up for 2-6 months.One patient had tumor recurrence 3 months and one patient died of disease 6 months after surgical excision.Conclusion E-GBM has a poor outcome and is closely associated with pleomorphic xanthoastrocytoma.MRI and epithelioid histological features are very important for the differential diagnosis.
