A case of von Recklinghausen’s disease with coincident malignant peripheral nerve sheath tumor and gastrointestinal stromal tumor

18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET/CT) was performed to evaluate a left femoral subcutaneous mass in a patient with von Recklinghausen’s disease (vRd) that gradually enlarged, causing pain and numbness. The left femoral mass showed intense FDG uptake with the maximum standardized uptake value (SUVmax) of 9.0. Other subcutaneous masses considered benign and neurogenic in nature also showed FDG uptake (SUVmax around 3 or less), but the degree of FDG uptake differed considerably from the left femoral mass. This observation suggested that the degree of FDG uptake may be a useful indicator of malignant transformation. Incidentally, PET/CT also showed an asymptomatic large abdominal mass with intense FDG uptake (SUVmax 8.8). The abdominal mass was resected and confirmed as gastrointestinal stromal tumor (GIST) of the small intestine. Three months later, the left femoral mass was operated on and pathologically diagnosed as a malignant peripheral nerve sheath tumor (MPNST). Various malignant diseases are known to occur with high frequency in vRd. Therefore, vRd patients need to have periodical examinations including PET/CT. We present a rare case of a patient with vRd with a MPNST of the left femur and coincidental GIST of the small intestine.