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DICER1 综合征年轻女性中伴有多层菊形团的非 C19MC 改变型胚胎性肿瘤:病例报告及文献复习

Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature.

机构信息

Department of Pathology, Hospital General de Granollers, Granollers, Spain.

Department of Oncology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

出版信息

Pathologica. 2024 Jun;116(3):170-175. doi: 10.32074/1591-951X-970.

Abstract

Embryonal tumors with multilayered rosettes (ETMR) are highly aggressive and therapy-resistant pediatric central nervous system (CNS) tumors that have three histological patters: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma. We present a case of ETMR in an 18-year-old woman with DICER1 syndrome. This report confirms the important role of DNA-methylation analysis in the classification of CNS embryonal tumors and the importance of investigating somatic and germline DICER1 mutations in all CNS embryonal tumors.

摘要

具有多层菊形团的胚胎性肿瘤 (ETMR) 是高度侵袭性和治疗抵抗的小儿中枢神经系统 (CNS) 肿瘤,具有三种组织学模式:富含神经胶质的胚胎性肿瘤和真正的菊形团、室管膜母细胞瘤和髓上皮瘤。我们报告了一例 DICER1 综合征 18 岁女性的 ETMR 病例。本报告证实了 DNA 甲基化分析在 CNS 胚胎性肿瘤分类中的重要作用,以及在所有 CNS 胚胎性肿瘤中研究体细胞和种系 DICER1 突变的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5aa7/11447652/3a5f45ad194f/pathol-2024-03-170-g001.jpg

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