Hassan Usman, Latif Maliha, Yousaf Irfan, Bin Anees Saad, Mushtaq Sajid, Akhtar Noreen, Loya Asif
Pathology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.
Histopathology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.
Cureus. 2021 Aug 17;13(8):e17267. doi: 10.7759/cureus.17267. eCollection 2021 Aug.
Background Diffuse midline gliomas with the H3K27M mutation are now recognized as separate entities due to their unique molecular signature, clinical features, and adverse outcome. Objective To determine the morphological spectrum and survival rate of diffuse midline gliomas with H3K27M mutation. Material and methods This retrospective study was conducted between January 2015 and January 2021 at Shaukat Khanum Memorial Cancer Hospital and Research Centre. Medical records of 28 cases of H3K27M-mutated midline gliomas were retrieved. Case slides were reviewed and the pertinent histological spectrum was evaluated. Results The mean age of patients was 24.36 ± 14.06 years. There were 21 (75%) males and 7 (25%) females. Biopsy was performed in 22 (78.6%), total resection in 1 (3.6%) while subtotal resection was done in 5 (17.9%) cases. Histologically, a spectrum of morphologies was noted with pilocytic astrocytoma (WHO grade 1) at one end and glioblastoma (WHO grade IV) at the other end. Immunohistochemically, all 28 cases were positive for Histone 3 immunohistochemistry. ATRX was performed in 7 (25.0%) cases with loss of ATRX expression in 3 (10.7%) and retained expression in 4 (14.3%) cases. Ki67 was <5% in 6 (21.4%), 5-10% in 1 (3.6%), 11-15% in 1 (3.6%), 16-20% in 3 (10.7%), 21-25% in 4 (14.3%), and 26-30% in 2 (7.1%) cases. The mean survival was 8.00 ± 9.39 months. Out of 28 patients, 15 (62.5%) patients died of disease. Conclusion Diffuse midline gliomas with H3K27M mutation is an aggressive entity with a broad morphological spectrum.
具有H3K27M突变的弥漫性中线胶质瘤因其独特的分子特征、临床特征和不良预后，现在被视为独立的实体。目的：确定具有H3K27M突变的弥漫性中线胶质瘤的形态学谱和生存率。材料与方法：本回顾性研究于2015年1月至2021年1月在沙卡特·汗姆纪念癌症医院和研究中心进行。检索了28例H3K27M突变的中线胶质瘤的病历。复查病例切片并评估相关的组织学谱。结果：患者的平均年龄为24.36±14.06岁。男性21例（75%），女性7例（25%）。22例（78.6%）进行了活检，1例（3.6%）进行了全切，5例（17.9%）进行了次全切。组织学上，观察到一系列形态，一端为毛细胞型星形细胞瘤（世界卫生组织1级），另一端为胶质母细胞瘤（世界卫生组织IV级）。免疫组化方面，28例均为组蛋白3免疫组化阳性。7例（25.0%）进行了ATRX检测，3例（10.7%）ATRX表达缺失，4例（14.3%）表达保留。Ki67<5%的有6例（21.4%），5 - 10%的有1例（3.6%），11 - 15%的有1例（3.6%），16 - 20%的有3例（10.7%），21 - 25%的有4例（14.3%），26 - 30%的有2例（7.1%）。平均生存期为8.00±9.39个月。28例患者中，15例（62.5%）死于疾病。结论：具有H3K27M突变的弥漫性中线胶质瘤是一种具有广泛形态学谱的侵袭性实体。
