A Systematic Review of Diagnostic Modalities and Strategies for the Assessment of Complications in Adult Patients with Neurofibromatosis Type 1

Author:

Rana Sounak1,Low Chen Ee1ORCID,Karthikeyan Manasadevi2,Koh Mark Jean Aan3,Ngeow Joanne4567,Chiang Jianbang47ORCID

Affiliation:

1. Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117597, Singapore

2. Cancer Genetics Service, National Cancer Centre, Singapore 168583, Singapore

3. KK Women’s and Children’s Hospital, Singapore 229899, Singapore

4. Duke-NUS Medical School, Singapore 169857, Singapore

5. Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore 637551, Singapore

6. Institute of Molecular and Cellular Biology, Agency for Science, Technology and Research, Singapore 138672, Singapore

7. Division of Medical Oncology, National Cancer Centre, Singapore 168583, Singapore

Abstract

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.

Publisher

MDPI AG

Reference80 articles.

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