BJMO - volume 17, issue 7, november 2023
M. De Wit MD, L-A-F. Clifton MD, E. Beuckelaers MD, J. Desimpelaere MD, D. Schrijvers MD, PhD
This article presents the case of a 35-year-old patient with a glomus tumour in the fourth digit of the right hand. The patient had a history of a bilateral embryonal testicular carcinoma, which was treated with surgery and chemotherapy. The initial complaints consisted of pain in all the fingers on the right hand, suspected of Raynaud phenomenon. Finally, the diagnosis was made clinically and through magnetic resonance imaging. He underwent surgery to remove the tumour, and the diagnosis was pathologically confirmed. The treatment was curative, and the complaint of pain resolved.
(Belg J Med Oncol 2023;17(7):264–6)
Read moreBJMO - volume 16, issue 4, june 2022
S. Mignon MD, A. Vandebroek MD, J. Desimpelaere MD, A. Van Beeck MD, P. Pauwels MD, PhD, J. Liu MD, D. Schrijvers MD, PhD
Mazabraud’s Syndrome is a rare benign disorder characterised by the association of two hallmark entities: fibrous dysplasia (FD) and intramuscular myxomas (IM). The aetiology of the disease is unclear, but molecular research of FD and IM points in the direction of post-zygotic mutations in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene, which activates a trophic cascade leading to aberrant cellular proliferation. Although the diagnosis of Mazabraud’s Syndrome is rare, showing a prevalence lower than 1/1,000,000, it should be suspected in every patient presenting with FD and IM. These patients should get a bone scintigraphy and a magnetic resonance imaging (MRI) of the affected anatomical area. Other imaging techniques, such as positron emission tomography-computed tomography (PET-CT), may have additional value. Finally, the patients should perform a biopsy of the IM to confirm the diagnosis. The treatment includes bisphosphonates for FD, and surgery is reserved only for severe cases with persistent pain, deformity, fracture, or risk for a pathological fracture. Asymptomatic IM should be treated conservatively, but symptomatic lesions can be surgically excised. Follow-up is useful since malignant transformation of FD and recurrence of IM after excision are reported in the literature.
(BELG J MED ONCOL 2022;16(4):187–90)
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