Purpose

The leading cause of early death in patients with neurofibromatosis type 1 (NF1) is malignant peripheral nerve sheath tumor (MPNST). The principles of management include early diagnosis, surgical clearance and close monitoring for tumor recurrence. Current methods for diagnosis, detection of residual disease and monitoring tumor burden are inadequate, as clinical and radiological features are non-specific for malignancy in patients with multiple tumors and lack the sensitivity to identify early evidence of malignant transformation or tumor recurrence. Circulating tumor DNA (ctDNA) is a promising tool in cancer management and has the potential to improve the care of patients with NF1. In the following article we summarise the current understanding of the genomic landscape of MPNST, report on the previous literature of ctDNA in MPNST and outline the potential clinical applications for ctDNA in NF1 associated MPNST. Finally, we describe our prospective cohort study protocol investigating the utility of using ctDNA as an early diagnostic tool for MPNSTs in NF1 patients.

中文翻译：

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1型神经纤维瘤病恶性周围神经鞘瘤的循环肿瘤DNA

目的

1型神经纤维瘤病（NF1）患者早期死亡的主要原因是恶性周围神经鞘瘤（MPNST）。管理原则包括早期诊断、手术清除和密切监测肿瘤复发。目前用于诊断、检测残留疾病和监测肿瘤负荷的方法是不充分的，因为临床和放射学特征对于患有多发性肿瘤的患者的恶性肿瘤是非特异性的，并且缺乏识别恶性转化或肿瘤复发的早期证据的敏感性。循环肿瘤 DNA (ctDNA) 是一种很有前途的癌症管理工具，具有改善 NF1 患者护理的潜力。在下面的文章中，我们总结了目前对 MPNST 基因组景观的理解，报告 ctDNA 在 MPNST 中的先前文献，并概述 ctDNA 在 NF1 相关 MPNST 中的潜在临床应用。最后，我们描述了我们的前瞻性队列研究方案，调查使用 ctDNA 作为 NF1 患者 MPNST 的早期诊断工具的效用。