Liu Jun, Huang Jing-Ning, Wang Ming-Han, Ni Zhen-Yang, Jiang Wei-Hao, Chung Manhon, Wei Cheng-Jiang, Wang Zhi-Chao
School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
School of Electronic Information and Electrical Engineering, Shanghai Jiao Tong University, Shanghai, China.
Front Oncol. 2022 May 23;12:898971. doi: 10.3389/fonc.2022.898971. eCollection 2022.
Neurofibromatosis type 1 (NF1) is a dominant hereditary disease characterized by the mutation of the gene, affecting 1/3000 individuals worldwide. Most NF1 patients are predisposed to benign peripheral nerve sheath tumors (PNSTs), including cutaneous neurofibromas (CNFs) and plexiform neurofibromas (PNFs). However, 5%-10% of PNFs will ultimately develop into malignant peripheral nerve sheath tumors (MPNSTs), which have a poor prognosis. Early and reliable differentiation of benign and malignant tumors in NF1 patients is of great necessity. Pathological evaluation is the "gold standard" for a definite diagnosis, but the invasive nature of the biopsy procedure restricts it from applying as a screening tool during the decades-long follow-up of these patients. Non-invasive image-based diagnostic methods such as CT and MRI are often considered essential screening tools for multiple types of tumors. For NF1 patients' lifelong regular follow-ups, these radiological methods are currently used for tumor evaluation. However, no consensus was established on screening the malignant transformation of benign PNSTs. Moreover, novel technologies like radiogenomics and PET-MRI have not been well evaluated and fully adopted for NF1 patients. This review summarizes current studies of different imaging methods for differentiating benign and malignant tumors in NF1. Meanwhile, we discussed the prospects of the usage of new tools such as radiogenomics and PET-MRI to distinguish MPNST from benign PNSTs more precisely. Summarizing these findings will help clarify the directions of future studies in this area and ultimately contribute to the radiology images-based clinical screening of MPNST in NF1 patients and finally improve the overall survival rates of these patients.
1型神经纤维瘤病（NF1）是一种显性遗传性疾病，其特征是基因发生突变，全球发病率为1/3000。大多数NF1患者易患良性周围神经鞘瘤（PNST），包括皮肤神经纤维瘤（CNF）和丛状神经纤维瘤（PNF）。然而，5%-10%的PNF最终会发展为恶性周围神经鞘瘤（MPNST），其预后较差。对NF1患者的良性和恶性肿瘤进行早期、可靠的鉴别非常必要。病理评估是明确诊断的“金标准”，但活检程序的侵入性限制了其在对这些患者长达数十年的随访中作为筛查工具的应用。CT和MRI等基于图像的非侵入性诊断方法通常被认为是多种肿瘤的重要筛查工具。对于NF1患者的终身定期随访，目前这些放射学方法用于肿瘤评估。然而，在筛查良性PNST的恶性转化方面尚未达成共识。此外，放射基因组学和PET-MRI等新技术尚未在NF1患者中得到充分评估和广泛应用。本综述总结了目前关于NF1中鉴别良性和恶性肿瘤的不同成像方法的研究。同时，我们讨论了使用放射基因组学和PET-MRI等新工具更精确地区分MPNST和良性PNST的前景。总结这些发现将有助于明确该领域未来的研究方向，并最终有助于基于放射学图像对NF1患者进行MPNST的临床筛查，从而提高这些患者的总体生存率。
