Kadyrov Sh U, Datsieva A A, Terentyeva A I, Grigorieva M V, Galstyan S A
Burdenko National Medical Research Center of Neurosurgery, Moscow, Russia.
Zh Vopr Neirokhir Im N N Burdenko. 2022;86(3):63-70. doi: 10.17116/neiro20228603163.
Embryonal tumor with multilayered rosettes (ETMR) is a rare and highly malignant brain tumor that develops in children younger 4 years old. This neoplasm is characterized by extremely aggressive course, low sensitivity to chemotherapy and radiotherapy. Thanks to the progress of pathologists, diagnosis of ETMR is now available using immunohistochemical examination with LIN28A and SALL4 antibodies. Moreover, detection of microRNA amplification in the 19q13.42 locus by fluorescent hybridization in situ allows an unmistakable diagnosis. The authors describe clinical course and treatment outcome in a 2-year-old patient with a giant tumor of the right parietotemporal region. Postoperative histological examination verified ETMR. Despite adjuvant treatment, we observed fast progression of disease and unfavorable outcome after 5 months. Case report is supplemented by literature review.
ETMR is very rare and poorly understood neoplasm. The authors present a giant hemispheric ETMR in a 2-year-old boy with an extremely aggressive course of disease. Despite the advances in diagnosis and treatment of CNS tumors in children, there are currently more questions than answers regarding ETMR. Pooled analysis of all available data with large-scale studies is needed. It is necessary to emphasize an exceptional role of each clinical case for global study of this tumor. Timely adjuvant/neoadjuvant therapy in highly specialized centers is also essential.
具有多层菊形团的胚胎性肿瘤（ETMR）是一种罕见且高度恶性的脑肿瘤，发生于4岁以下儿童。这种肿瘤的特点是病程极具侵袭性，对化疗和放疗敏感性低。由于病理学家的进步，现在可通过使用LIN28A和SALL4抗体的免疫组化检查来诊断ETMR。此外，通过荧光原位杂交检测19q13.42位点的微小RNA扩增可做出明确诊断。作者描述了一名患有右侧顶颞区巨大肿瘤的2岁患者的临床病程和治疗结果。术后组织学检查证实为ETMR。尽管进行了辅助治疗，但我们观察到疾病在5个月后快速进展且预后不良。病例报告辅以文献综述。
ETMR是一种非常罕见且了解甚少的肿瘤。作者报告了一名2岁男孩的巨大半球性ETMR，其病程极具侵袭性。尽管儿童中枢神经系统肿瘤的诊断和治疗取得了进展，但目前关于ETMR的问题多于答案。需要对所有可用数据进行汇总分析并开展大规模研究。必须强调每个临床病例在该肿瘤全球研究中的特殊作用。在高度专业化的中心及时进行辅助/新辅助治疗也至关重要。
