Background: Neurofibromatosis Type 1 is an autosomal dominant tumour-predisposition condition commonly diagnosed in childhood and fully penetrant by adulthood. Long-term monitoring through imaging is inconsistent and varies between high- and low-income countries. Implementation of a clinical practice guideline through a multidisciplinary clinic is instrumental to the care of adult Neurofibromatosis Type 1 patients. We aim to systematically review international diagnostic modalities and strategies to evaluate any association between a country’s socioeconomic status and diagnostic modalities or strategies used for Neurofibromatosis Type 1 patients. Methods: We searched PubMed, Embase, Web of Science, and Cochrane. Relevant clinical information on the surveillance of adult Neurofibromatosis Type 1 patients worldwide was reviewed, extracted, and synthesised. Results: We identified 51 papers reporting on 7724 individuals. Multiple imaging modalities are actively employed in high-income and upper-middle-income countries for surveying adult Neurofibromatosis Type 1 patients. We did not find any relevant papers from low- and middle-income countries. Conclusions: This systematic review suggests that there is robust data on diagnostic modalities for adult Neurofibromatosis Type 1 patients in high-income countries, but not for low- and middle-income countries. There is a lack of data on consolidated diagnostic strategies from both high- and low-income countries. Efforts should be made to publish data on usual clinical practice in low- and middle-income countries to develop clinical practice guidelines describing best medical practice to fit a local context.
背景：1型神经纤维瘤病是一种常染色体显性遗传的肿瘤易感性疾病，通常在儿童期被诊断，至成年期完全外显。通过影像学进行长期监测的方式并不一致，且在高收入与低收入国家之间存在差异。通过多学科诊所实施临床实践指南对成年1型神经纤维瘤病患者的诊疗至关重要。本研究旨在系统综述国际诊断方式与策略，以评估国家社会经济状况与1型神经纤维瘤病患者所用诊断方式或策略之间是否存在关联。 方法：我们检索了PubMed、Embase、Web of Science及Cochrane数据库。对全球范围内成年1型神经纤维瘤病患者监测的相关临床信息进行了审查、提取与整合。 结果：共纳入51篇文献，涉及7724例个体。在高收入及中高收入国家，多种影像学检查手段被积极用于成年1型神经纤维瘤病患者的监测。未发现来自低收入及中低收入国家的相关文献。 结论：本系统综述表明，高收入国家关于成年1型神经纤维瘤病患者诊断方式的数据较为充分，而低收入及中低收入国家则缺乏相关数据。无论是高收入还是低收入国家，均缺乏关于统一诊断策略的数据。应着力推动低收入及中低收入国家常规临床实践数据的发表，以制定符合当地实际情况、描述最佳医疗实践的临床实践指南。
肿瘤(癌症)患者之家