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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Checkpoint inhibitors in the first-line treatment of non-small cell lung cancer

BJMO - volume 11, issue 8, december 2017

L. Decoster MD, PhD, K. Vekens , S. Mignon MD, D. Schallier MD, PhD, J. De Grève MD, PhD

SUMMARY

Antibodies against programmed cell death-1 (PD-1) and its ligand (PD-L1) have become standard-of-care in the second-line treatment for advanced non-small cell lung cancer after failure of first-line chemotherapy. The observed durable responses as well as the favourable toxicity profile have moved these agents to first-line studies for advanced non-small cell lung cancer. In tumours with high PD-L1 expression, pembrolizumab is registered as the preferred first-line treatment. Further studies are currently focusing on combination strategies. The major future challenge will be selecting the optimal treatment strategy for the patient.

(BELG J MED ONCOL 2017;11(8):380–385)

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