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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.

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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