BJMO - volume 18, issue 6, october 2024
A. Bouzidi Ilias MD, F. Bosmans MD, A. Van Beeck MD, D. Schrijvers MD, PhD
Presacral myelolipomas are exceedingly rare benign tumours composed of mature adipose tissue and haematopoietic elements. Here, we present a case report of an 81-year-old male with a complex medical history, who presented with recurrent disabling back pain and haematuria. Initial evaluation showed a presacral lipomatous mass, raising concerns of a liposarcoma. Multidisciplinary discussion raised the possibility of a presacral myelolipoma and suggested a nuclear scan for confirmation of this diagnosis. Given the absence of symptoms due to the presacral mass and patient comorbidities, a watchful waiting approach was adopted. This case underscores the diagnostic challenges associated with presacral masses, emphasising the necessity for accurate identification to guide optimal management strategies. Heightened awareness among clinicians and radiologists is crucial for timely and accurate management decisions in such cases. This report contributes to the existing literature by highlighting the diagnostic process and management of this rare entity.
(BELG J MED ONCOL 2024;18(6):239-243)
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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