Articles

Mazabraud’s Syndrome in association with other benign soft tissue tumours: A case report

BJMO - 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

SUMMARY

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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Bone complications in cancer patients

BJMO - volume 8, issue 1, march 2014

D. Schrijvers MD, PhD, A. Vandebroek MD, N. Blockx MD, F. van Fraeyenhove MD

Bone complications are frequently observed in cancer patients. They may be the result of the disease or due to the anticancer treatment. Osteoporosis is seen in up to 30% of cancer patients depending on tumor type and treatment and screening for osteoporosis is indicated in selected patients. It should be prevented by the use of calcium and vitamin D and exercising programs and, if present, should be adequately treated by drugs registered for the treatment of osteoporosis. Bone metastases are observed in up to 75% of metastatic cancer patients depending on the tumor type. Skeletal-related complications, occurring in 50–70% in patients with bone metastases, can be prevented and delayed by the use of bisphosphonates or denosumab. Prevention of the development of bone metastases has been shown by anti-tumor treatment while the role of modification of the micro-environment by bisphosphonates and denosumab needs further study.

(BELG J MED ONCOL 2014;8(1):3–8)

 

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