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CDKN2A/B 缺失与 NTRK2 融合阳性毛细胞星形细胞瘤中的间变转化相关。

CDKN2A/B Loss Is Associated with Anaplastic Transformation in a Case of NTRK2 Fusion-positive Pilocytic Astrocytoma.

机构信息

University of California, San Francisco, CA, USA.

Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

出版信息

Neuropathol Appl Neurobiol. 2019 Feb;45(2):174-178. doi: 10.1111/nan.12503. Epub 2018 Jun 21.

DOI:10.1111/nan.12503
PMID:29804288
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6258357/
Abstract

Pilocytic astrocytomas are typically grade I astrocytomas, only rarely progressing to anaplastic counterparts [1]. In the case of anaplastic pilocytic astrocytomas, some are associated with neurofibromatosis type 1 (NF1) [2], others are associated with radiation treatment [2], and the remainder appear de novo. These de novo tumours can be particularly challenging to distinguish from glioblastomas, which are grade IV and carry a worse prognosis. Here we report an unusual case of malignant transformation of a pilocytic astrocytoma in the absence of alterations or radiation treatment.

摘要

毛细胞型星形细胞瘤通常为 I 级星形细胞瘤,很少进展为间变型对应物[1]。在间变性毛细胞型星形细胞瘤的情况下,一些与神经纤维瘤病 1 型 (NF1)有关[2],另一些与放射治疗有关[2],其余的则为原发性。这些原发性肿瘤与预后较差的 IV 级胶质母细胞瘤特别难以区分。在这里,我们报告了一例罕见的毛细胞型星形细胞瘤恶变病例,该病例无改变或放射治疗。

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2
Xenotransplantation of pediatric low grade gliomas confirms the enrichment of V600E mutation and preservation of deletion in a novel orthotopic xenograft mouse model of progressive pleomorphic xanthoastrocytoma.小儿低级别胶质瘤的异种移植在一种新型的进行性多形性黄色星形细胞瘤原位异种移植小鼠模型中证实了V600E突变的富集和缺失的保留。
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BRAF V600E Status Alone Is Not Sufficient as a Prognostic Biomarker in Pediatric Low-Grade Glioma.仅BRAF V600E状态不足以作为小儿低级别胶质瘤的预后生物标志物。
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Therapeutic and Prognostic Implications of BRAF V600E in Pediatric Low-Grade Gliomas.BRAF V600E在儿童低级别胶质瘤中的治疗及预后意义
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