[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis

P. Wolkenstein,B. Funalot,I. Gallais Sérézal,S. Ferkal,S. Mulé,L. Lerman

doi:10.1186/s13023-021-01680-0

Abstract

Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwannomas and whole-body [18F]FDG-PET/MRI might help detect extra schwannomas in patients when the diagnosis is uncertain. Among the 25 patients treated for Schwannomatosis in our tertiary center, three men and two women had had a [18F]FDG-PET/MRI performed, and the number of schwannomas detected by [18F]FDG-PET/MRI outnumbered the number of schwannomas suspected during the clinical examination. The majority of schwannomas exhibited a radiolabeling (median of 66.7%, range 28–93%). Our findings show that [18F]FDG-PET/MRI could prove useful when suspecting schwannomatosis to accelerate diagnosis and offer optimal care to patients.

Highlights

Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas
*Correspondence: pierre.wolkenstein@aphp.fr 3 INSERM, Centre D’Investigation Clinique 006, centre de référence des neurofibromatoses, Hôpital Henri‐Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France Full list of author information is available at the end of the article
Patients must have no evidence of bilateral vestibular schwannomas on magnetic resonance imaging scan (MRI), no first-degree relative with diagnosed neurofibromatosis type 2 (NF2), and no known constitutional NF2 mutation

Summary

Introduction

Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. An optimal evaluation of the number of lesions is capital in the diagnosis of schwannomatosis since it requires the identification of two or more schwannomas [1]. *Correspondence: pierre.wolkenstein@aphp.fr 3 INSERM, Centre D’Investigation Clinique 006, centre de référence des neurofibromatoses, Hôpital Henri‐Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France Full list of author information is available at the end of the article Patients must have no evidence of bilateral vestibular schwannomas on magnetic resonance imaging scan (MRI), no first-degree relative with diagnosed NF2, and no known constitutional NF2 mutation.

Results

Conclusion