Ryzhova M V, Kadyrov Sh U, Kumirova E V, Shishkina L V, Nikitin P V, Panina T N, Shibaeva I V, Shugay S V, Starovoytov D V, Sycheva R V, Zubova I V
Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia.
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia, Moscow, Russia.
Arkh Patol. 2019;81(2):36-42. doi: 10.17116/patol20198102136.
The paper describes a clinical case of atypical teratoid/rhabdoid tumor with preserved INI1 expression and SMARCA4 gene mutations in an 8-month-old girl. Genome-wide DNA methylation, hierarchical clustering, and next-generation sequencing were used to make a tumor diagnosis. However, BRG1 immunohistochemical examination may be recommended in the routine practice of diagnosis and study of childhood CNS malignant tumors.
本文描述了一名8个月大女孩患非典型畸胎样/横纹肌样肿瘤的临床病例，该肿瘤INI1表达保留且存在SMARCA4基因突变。采用全基因组DNA甲基化、层次聚类和二代测序进行肿瘤诊断。然而，在儿童中枢神经系统恶性肿瘤的常规诊断和研究中，可能推荐进行BRG1免疫组化检查。
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