Judy Soper

Superficial acral fibromyxoma: a report of two cases with radiological findings

Superficial acral fibromyxoma is a recently described soft tissue neoplasm with a predilection for the tips of the fingers and toes. As such it must be included in the radiological differential diagnosis of soft tissue lesions eroding bone in this location. The radiological features of this distinctive tumour have not so far been described. We report two cases with radiological and histopathological features.

Programmed cell death-1 blockade in recurrent disseminated Ewing sarcoma

BackgroundEwing sarcoma (EWS) is a malignant tumour of bone and soft tissue, and although many patients are cured with conventional multimodal therapy, those with recurrent or metastatic disease have a poor prognosis. Genomic instability and programmed cell death ligand-1 (PD-L1) expression have been identified in EWS, providing a rationale for treatment with agents that block the programmed cell death-1 (PD-1) receptor.Case presentationIn this report, we describe a heavily pre-treated patient with recurrent metastatic EWS who achieved a clinical and radiological remission with PD-1 blockade.ConclusionsTo our knowledge, this is the first reported case demonstrating efficacy of PD-1 blockade in EWS. This warrants further investigation in particular given the poor prognosis in patients with recurrent or metastatic disease.

Correlative Imaging in an Atypical Case of Mazabraud Syndrome

WEB This is a Web exclusive article. azabraud syndrome is a rare phenomenon that reflects the association between intramuscular myxoma and fibrous dysplasia, which is usually polyostotic. Approximately 40 cases have been described in the literature since the initial report by Henschen [1] in 1926. Mazabraud et al. [2] in 1967 emphasized the association as part of the spectrum of fibrous dysplasia. We present an atypical example of the syndrome and the characteristic difficulties encountered in interpretation of correlative images that necessitated biopsy of the bone and soft-tissue components for a firm diagnosis. Case Report A 53-year-old woman presented with a hard painless mass in the left deltoid muscle that had been noticed by her daughter. The patient had no symptoms, and the age of the mass was indeterminate. Sonography revealed a 51 × 46 × 48 mm oval hypoechoic soft-tissue mass within the deltoid muscle of the left arm. There was no involvement of the adjacent humerus. Radiographs of the humerus and forearm (Figs. 1A and 1B) showed multiloculated radiolucent expansile intramedullary masses involving the entire length of the left humeral shaft and most of the radius. There M

Imaging of tumors in the ankle and foot.

Common bone and soft tissue tumors in the foot and ankle are described in this article, and x-ray and magnetic resonance imaging characteristics are given. Ultrasound can be used for limited indications only, noting that ultrasound features are nonspecific. Of the bone and soft tissue tumors, approximately 7% occur in the foot and ankle. Soft tissue tumors are more common than bone tumors. Tumors of the foot and ankle are generally benign or nonneoplastic. Patients with suspected malignant lesions should be referred to a specialized bone tumor unit before biopsy.

Epiphyseal osteoblastoma-like osteosarcoma

Osteoblastoma-like osteosarcoma is a rare variant of osteosarcoma occurring in this instance in a highly unusual location: the lateral femoral condyle of a 13-year-old girl. The radiological features were non-aggressive and, although slightly unusual, were most suggestive of chondroblastoma.

Atypical EWSR1 FISH signal patterns in bone and soft tissue tumours:– diagnostic experience with 135 cases

Recurrent Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangements characterize a select group of bone and soft tissue tumours. In our routine diagnostic practice with fluorescence in‐situ hybridization (FISH), we have occasionally observed EWSR1 gene rearrangements in tumours not associated classically with EWSR1 translocations. This study aimed to review our institutional experience of this phenomenon and also to highlight the occurrence of unusual EWSR1 FISH signals (i.e. 5′ centromeric region or 3′ telomeric region signals) that do not fulfil the published diagnostic criteria for rearrangements.

FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center

Fluorescence in situ hybridization (FISH) is an important ancillary tool for the classification of bone/soft tissue (BST) tumors. The aim of this study was to evaluate the contribution of FISH to the final classification of common BST entities in the molecular pathology department of the Royal Prince Alfred Hospital (RPAH), which is one of the most important referral centers for the management of sarcomas in Australia.

Beware the “giant cell tumour” of the distal radius

The third most common site that giant cell tumours occur is the distal radius, with approximately 10% of cases occurring at that site. We report three cases where the imaging raised the possibility of giant cell tumours but biopsy has revealed an altogether more aggressive pathology. We believe biopsy is mandatory in presumed giant cell tumours, particularly those affecting the distal radius.