Neurogenetic tumor syndromes: The current landscape of workup and treatment.

IF 2.5 Q2 CLINICAL NEUROLOGY

Neuro-oncology practice Pub Date : 2025-08-28 eCollection Date: 2026-02-01 DOI:10.1093/nop/npaf089

Rimas V Lukas, Ashley Cannon, Prashant Chittiboina, Harish N Vasudevan, Jaishri O Blakeley, Angela C Hirbe

引用次数: 0

Abstract

Experts and generalists from numerous clinical disciplines are likely to encounter and be involved in the care of patients with neurogenetic tumor syndromes. Considerations for genetic testing are discussed. Specific conditions including neurofibromatosis type 1, neurofibromatosis type 2-related schwannomatosis, von Hippel-Lindau disease, tuberous sclerosis, Lynch syndrome, Turcot syndrome, Li-Fraumeni syndrome, and others are reviewed. A variety of targeted therapies which have received regulatory approval for these disorders are described and promising future directions for therapeutics are highlighted.

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神经遗传性肿瘤综合征：检查和治疗的现状。

来自众多临床学科的专家和通才可能会遇到并参与神经遗传性肿瘤综合征患者的护理。讨论了基因检测的注意事项。具体情况包括1型神经纤维瘤病、2型神经纤维瘤病相关的神经鞘瘤病、von Hippel-Lindau病、结节性硬化症、Lynch综合征、Turcot综合征、Li-Fraumeni综合征等。本文描述了已经获得监管机构批准的针对这些疾病的各种靶向治疗方法，并强调了治疗方法的未来发展方向。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neuro-oncology practice CLINICAL NEUROLOGY-

CiteScore

5.30

自引率

11.10%

发文量

期刊介绍： Neuro-Oncology Practice focuses on the clinical aspects of the subspecialty for practicing clinicians and healthcare specialists from a variety of disciplines including physicians, nurses, physical/occupational therapists, neuropsychologists, and palliative care specialists, who have focused their careers on clinical patient care and who want to apply the latest treatment advances to their practice. These include: Applying new trial results to improve standards of patient care Translating scientific advances such as tumor molecular profiling and advanced imaging into clinical treatment decision making and personalized brain tumor therapies Raising awareness of basic, translational and clinical research in areas of symptom management, survivorship, neurocognitive function, end of life issues and caregiving