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头颈部遗传性肿瘤综合征:基因组时代的最新进展

"Genetic tumor syndromes of the head and neck: Update in the genomic era".

作者信息

Brahmbhatt Sneh, Agarwal Amit, Shetty Dhruv, Desai Amit, Bhatt Alok A

机构信息

Department of Radiology, Mayo Clinic, Jacksonville, FL, USA.

出版信息

Neuroradiol J. 2025 Jun;38(3):277-290. doi: 10.1177/19714009241269462. Epub 2024 Aug 7.

Abstract

Genetic tumor syndromes are due to inherited genetic mutations, which have recently come to the attention of clinicians due to the widespread adoption of DNA sequencing, ultimately leading to imaging for surveillance. As a result, radiologists must be familiar with the clinical, genetic, and radiologic features of these syndromes. This article reviews genetic tumor syndromes of the head and neck according to the recently updated WHO's 5th edition.

摘要

遗传性肿瘤综合征是由遗传基因突变引起的,由于DNA测序的广泛应用,这些综合征最近受到了临床医生的关注,最终导致了用于监测的影像学检查。因此,放射科医生必须熟悉这些综合征的临床、遗传和放射学特征。本文根据世界卫生组织最近更新的第5版,对头颈部遗传性肿瘤综合征进行综述。

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