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  • Nakai, Yudai  (2)
  • Zhang, Liuzhe  (2)
  • 1
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    Atypical Neurofibromatous Neoplasm with Uncertain Biologic Potential in the Posterior Mediastinum of a Young Patient with Neurofibromatosis Type 1: A Case Report
    S. Karger AG ; 2022
    In:  Case Reports in Oncology Vol. 15, No. 3 ( 2022-11-8), p. 988-994
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    In: Case Reports in Oncology, S. Karger AG, Vol. 15, No. 3 ( 2022-11-8), p. 988-994
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 1662-6575
    URL: Article
    DOI: 10.1159/000526844
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2022
    detail.hit.zdb_id: 2458961-5
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  • 2
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    Patterns of symptoms and insufficiency fractures in patients with tumour-induced osteomalacia
    British Editorial Society of Bone & Joint Surgery ; 2023
    In:  The Bone & Joint Journal Vol. 105-B, No. 5 ( 2023-5-1), p. 568-574
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    In: The Bone & Joint Journal, British Editorial Society of Bone & Joint Surgery, Vol. 105-B, No. 5 ( 2023-5-1), p. 568-574
    Abstract: The aim of this study was to report the patterns of symptoms and insufficiency fractures in patients with tumour-induced osteomalacia (TIO) to allow the early diagnosis of this rare condition. Methods The study included 33 patients with TIO who were treated between January 2000 and June 2022. The causative tumour was detected in all patients. We investigated the symptoms and evaluated the radiological patterns of insufficiency fractures of the rib, spine, and limbs. Results The mean age of the patients was 57 years (24 to 87), and the mean duration of pain from onset to time of presentation was 3.9 years (0.75 to 23). The primary symptoms were low back pain (ten patients), chest wall pain (eight patients), and hip pain (eight patients). There were symptoms at more sites at the time of presentation compared with that at the time of the onset of symptoms. Bone scans showed the uptake of tracer in the rib (100%), thoracic and lumbar vertebrae (83%), proximal femur (62%), distal femur (66%), and proximal tibia (72%). Plain radiographs or MRI scans identified femoral neck fractures in 14 patients, subchondral insufficiency fractures of the femoral head and knee in ten and six patients, respectively, distal femoral fractures in nine patients, and proximal tibial fractures in 12 patients. Thoracic or lumbar vertebral fractures were identified in 23 of 29 patients (79.3%) when using any imaging study, and a biconcave deformity was the most common type of fracture. Conclusion Insufficiency fractures in patients with TIO caused spinal pain, chest wall pain, and periarticular pain in the lower limbs. Vertebral fractures tended to be biconcave deformities, and periarticular fractures of the hips and knees included subchondral insufficiency fractures and epiphyseal or metaphyseal fractures. In patients with a tumour, the presence of one or more of these symptoms and an insufficiency fracture should suggest the diagnosis of TIO. Cite this article: Bone Joint J  2023;105-B(5):568–574.
    Type of Medium: Online Resource
    ISSN: 2049-4408 , 2049-4394
    URL: Article
    DOI: 10.1302/0301-620X.105B5.BJJ-2022-1206.R2
    Language: English
    Publisher: British Editorial Society of Bone & Joint Surgery
    Publication Date: 2023
    detail.hit.zdb_id: 2697480-0
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