Abstract
Patients with neurofibromatosis type 1 (nf1) are at increased risk for both benign and malignant tumours, and distinguishing the malignant potential of an individual tumour is a common clinical problem in these patients. Here, we review two cases of uncommon malignancies (Hodgkin lymphoma and mediastinal germ-cell tumour) in patients with nf1. Although (18)F-fluorodeoxyglucose positron-emission tomography (fdg-pet) has been used to differentiate benign neurofibromas from malignant peripheral nerve sheath tumours, fdg-pet characteristics for more rare tumours have been poorly described in children with nf1. Here, we report the role of pet imaging in clinical decision-making in each case. In nf1, fdg-pet might be useful in the clinical management of unusual tumour presentations and might help to provide information about the malignant potential of uncommon tumours.
Highlights
Neurofibromatosis type 1 is a common genetic syndrome associated with both benign and malignant tumours
A young man (15 years of age) followed for known sporadic nf[1] and with a large abdominal–pelvic–lumbar spine plexiform neurofibroma diagnosed by magnetic resonance imaging, presented with a 1-week history of fevers, intractable cough, and shortness of breath
Lack of neurofibromin results figure 1 Case 1. (A) Initial coronal and axial magnetic resonance short T1 inversion recovery images of left axillary Hodgkin lymphoma, (B) with corresponding coronal fluorodeoxyglucose positron-emission tomography image and axial fdgpet–computed tomography image. (C) Coronal fdg-pet and axial fdg-pet–ct images 3 months after surgery show a new focus of fdg uptake in the left pectoralis major muscle
Summary
Neurofibromatosis type 1 (nf1) is a common genetic syndrome associated with both benign and malignant tumours. Affected individuals have an increased risk of malignancy, most commonly malignant peripheral nerve sheath tumour (mpnst). Positron-emission tomography with 18F-fluorodeoxyglucose (fdg-pet) has been useful in differentiating mpnst from benign neurofibroma[1,2,3,4], but few reports of fdg-pet in the evaluation of other nf1-associated malignancies have been published. We report fdg-pet characteristics of two unusual malignancies in nf[1] and discuss the utility of pet in the management of atypical tumour presentations
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