Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that predisposes affected individuals to benign and malignant tumors throughout their lifetime. Early detection of those lesions is critical for effective management. PET/CT with ¹⁸F-fluorodeoxyglucose (¹⁸F-FDG) has emerged as a potentially efficient modality for detecting malignant tumors in patients with NF1. The aim of this study was to investigate this hypothesis by assessing the presence of incidental findings of malignant and potentially malignant tumors using ¹⁸F-FDG PET/CT in an adult NF1 cohort.

In this retrospective observational study, clinical data were collected from medical records, including sex, age, family history, clinical manifestations, and tumor diagnosis. Data on imaging and diagnostic modalities that led to the diagnosis of NF1-related tumors or other malignant and potentially malignant tumors were collected. These modalities included ¹⁸F-FDG PET/CT, MRI, CT, mammography, scintigraphy, and pathology reports.

A total of 79 adult patients with NF1 were included in this study, comprising 29 male and 50 female patients, all of whom had received an NF1 diagnosis. Of these, 51 patients (64.6%) underwent a ¹⁸F-FDG PET/CT scan during their follow-up. A total of 31 malignant or potentially malignant tumors were diagnosed in addition to 2 pheochromocytomas and 24 gliomas. Notably, ¹⁸F-FDG PET/CT scans incidentally detected 12 significant findings: 4 gastrointestinal stromal tumors, 3 carcinomas and premalignant tumors of the thyroid gland, 2 malignant peripheral nerve sheath tumors, 1 serous borderline ovarian tumor, 1 testicular seminoma, and 1 pheochromocytoma. Most incidental findings required surgery and could have significantly affected disease management if diagnosed at a later stage.

In this cohort of 79 adult patients with NF1, ¹⁸F-FDG PET/CT proved as a valuable complementary imaging modality to conventional imaging by enabling the detection of incidental malignant or potentially malignant tumors. Our results highlight ¹⁸F-FDG PET/CT's beneficial impact on disease management by suggesting that the incorporation of ¹⁸F-FDG PET/CT into screening protocols could improve early detection of NF1-related cancers in asymptomatic adults, potentially offering early treatment options to improve clinical outcomes.