Atypical Neurofibromatous Neoplasm with Uncertain Biologic Potential in the Posterior Mediastinum of a Young Patient with Neurofibromatosis Type 1: A Case Report

• Published in: Case reports in oncology 2022-11, Vol.15 (3), p.988-994
• Main Authors: Miyamoto, Kodai, Kobayashi, Hiroshi, Zhang, Liuzhe, Tsuda, Yusuke, Makise, Naohiro, Yasunaga, Yoichi, Ikemura, Masako, Nakai, Yudai, Shibata, Eisuke, Ushiku, Tetsuo, Tanaka, Sakae
• Format: Article
• Language: English
• Subjects: atypical neurofibromatous neoplasm with uncertain biologic potential; Biopsy; Case Report; Case reports; Genetic disorders; Magnetic resonance imaging; malignant peripheral nerve sheath tumor; Medical prognosis; Mutation; neurofibromatosis type 1; Neurological disorders; Patients; positron emission tomography; Tomography; Tumors; Vertebrae
• ISSN: 1662-6575; 1662-6575
• DOI: 10.1159/000526844

Atypical neurofibromatous neoplasm with unknown biological potential (ANNUBP), proposed in a recent NIH consensus overview, is a rare precursor entity of malignant peripheral nerve sheath tumor (MPNST) in neurofibromatosis type 1 (NF1) patients. Only one report on imaging findings of ANNUBP is available. Herein, we present the case of a 19-year-old female, diagnosed with a mediastinal tumor by chance, who visited to our hospital. She had café-au-lait spots on her trunk and a past history of resected neurofibroma. Her family also had café-au-lait spots; therefore, an NF1-induced tumor was strongly suspected. MRI revealed a paravertebral mass of 7.5 cm in size consisting of an inner rim with low T2 signal intensity and an outer rim with high T2 intensity, which was similar to a target sign, adjacent to the pulmonary veins; the center of the tumor was well enhanced by gadolinium, and the peripheral region was myxoid and slightly enhanced. FDG-PET showed high FDG uptake, SUVmax of 8.5, although the peripheral region represented low FDG accumulation. CT-guided needle biopsy was repeated because of the suspicion of an MPNST, which resulted in the histopathological diagnosis of ANNUBP. Marginal tumor resection was performed, and the final post-resection histopathological diagnosis was ANNUBP transformed from neurofibroma; the region of ANNUBP lost p16 immunostaining, although it was retained in the peripheral region of the neurofibroma. There has been no recurrence or metastasis 1 year after treatment. In conclusion, ANNUBP could be represented as a well-enhanced homogeneous mass on MRI and a high FDG accumulated region on FDG PET/CT, as seen in MPNST, in NF1 patients.