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脑转移中复发性 PTPRZ1-MET 融合和 MET 外显子 14 跳跃的高发生率。

Recurrent PTPRZ1-MET fusion and a high occurrence rate of MET exon 14 skipping in brain metastases.

机构信息

Department of Molecular Neuropathology, Department of Neuropathology, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

出版信息

Cancer Sci. 2022 Feb;113(2):796-801. doi: 10.1111/cas.15211. Epub 2021 Nov 30.

Abstract

Identifying molecular features is an essential component of the management and targeted therapy of brain metastases (BMs). The molecular features are different between primary lung cancers and BMs of lung cancer. Here we report the DNA and RNA mutational profiles of 43 pathological samples of BMs. In addition to previously reported mutational events associated with targeted therapy, PTPRZ1-MET, which was previously exclusively identified in glioma, was present in two cases of BMs of lung cancer. Furthermore, MET exon 14 skipping may be more common (6/37 cases) in BMs of lung cancer than the frequency previously reported in lung cancer. These findings highlight the clinical significance of targeted DNA plus RNA sequencing for BMs and suggest PTPRZ1-MET and MET exon 14 skipping as critical molecular events that may serve as targets of targeted therapy in BMs.

摘要

鉴定分子特征是脑转移瘤(BMs)管理和靶向治疗的重要组成部分。原发性肺癌和肺癌 BMs 的分子特征不同。我们在此报告了 43 例 BMs 病理样本的 DNA 和 RNA 突变特征。除了先前与靶向治疗相关的突变事件外,先前仅在神经胶质瘤中发现的 PTPRZ1-MET 也存在于 2 例肺癌 BMs 中。此外,MET 外显子 14 跳跃在肺癌 BMs 中可能更为常见(37 例中有 6 例),高于先前在肺癌中报道的频率。这些发现强调了针对 BMs 的靶向 DNA 加 RNA 测序的临床意义,并提示 PTPRZ1-MET 和 MET 外显子 14 跳跃可能是作为 BMs 靶向治疗靶点的关键分子事件。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf22/8819346/50dfe7ad4ff3/CAS-113-796-g002.jpg

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