Gorham-Stout disease: remission with sirolimus therapy.

Gorham-Stout disease (GSD) is a rare, non-hereditary, bone disease characterised by progressive osteolysis as a result of uncontrolled proliferation of endothelial-lined vessels replacing normal bone. We present a baby-girl with the classic radiological features of GSD and compatible clinical and histological findings, who developed progressive disease for over 2 years despite propranolol treatment. Propranolol treatment was stopped and sirolimus monotherapy started which resulted in near-complete resolution after 1 year, with no recurrence after discontinuation of treatment. This case not only illustrates the typical features of GSD on a variety of imaging modalities, but is also the first report showing stark contrast in response between propranolol and sirolimus treatment for GSD, highlighting how targeting lymphatic, rather than solely angiomatous, proliferation at the vascular endothelial growth factor-level may be a future direction.

Image-guided synovial biopsy with a focus on neoplastic lesions.

Image-guided synovial biopsy is generally a safe, well-tolerated procedure, with a high diagnostic yield. Percutaneous biopsy is indicated for synovial tumours visible on imaging studies where a definitive diagnosis is not possible on imaging grounds alone and/or when a definite diagnosis is necessary prior to initiating long-term treatment. Synovial biopsy for suspected synovial tumour differs from the technique used for joint aspiration, where the most convenient path between the skin and joint is usually chosen and, also, to a lesser degree, to that used for non-tumoural synovial biopsy. During synovial biopsy for tumour, the needle path should be aligned so that it passes along the length of the synovial tumour, including for suspected malignant tumours, the planned resection plane whenever possible. This review outlines the approach to image-guided biopsy of joint synovial tumours.

Case 291: Amyloid-associated Cystic Lung Disease and Coexistent Mucosa-associated Lymphoid Tissue Lymphoma.

History A 46-year-old woman with known mixed connective tissue disease with clinical features of scleroderma and polymyositis and who was not on specific medications was referred to our institution to assess for interstitial lung disease due to her predisposing condition. She was a nonsmoker, had no respiratory symptoms, and enjoyed good exercise tolerance. She did not have any cutaneous lesions or renal disease. There was no family history of pulmonary or systemic disease. Her routine blood test results revealed a white blood cell count of 4.6 × 109/L (normal range, [4.4-10.1] × 109/L), a hemoglobin level of 7.76 mmol/L (normal range, 7.26-9.18 mmol/L), a platelet count of 189 × 109/L (normal range, [170-380] × 109/L), a bilirubin level of 8 mmol/L (normal range, <19 mmol/L), and a creatinine level of 63 mmol/L (normal range, 45-82 mmol/L), all within normal limits. Lung function tests at presentation yielded normal results, with a diffusing capacity for carbon monoxide of 95% and a forced vital capacity of 2.29 (98% predicted value). However, this patient had an elevated serum globulin level of 47 g/L (normal range, 26-32 g/L) and an erythrocyte sedimentation rate of 36 mm/h (normal range, 0-20 mm/h), while C-reactive protein level was normal at less than 0.35 mg/dL. She was seropositive for antinuclear (titer >1/720), anti-Ro, anti-La, and anti-extractable nuclear antigen antibodies. Chest radiography and CT were performed at presentation and 14-year follow-up. PET/CT was performed at 7- and 13-year follow-up. Throughout this 14-year follow-up period, she remained completely free of respiratory symptoms and continued to go for a brisk walk every day. At 14-year follow-up, there was no substantial change in serum laboratory values, but a lung function test revealed her diffusing capacity for carbon monoxide had decreased to 52%, while her forced vital capacity remained good at 95%; these findings were suggestive of interval development of restrictive lung function.

Case 291.

History A 46-year-old woman with known mixed connective tissue disease with clinical features of scleroderma and polymyositis and who was not on specific medications was referred to our institution to assess for interstitial lung disease due to her predisposing condition. She was a nonsmoker, had no respiratory symptoms, and enjoyed good exercise tolerance. She did not have any cutaneous lesions or renal disease. There was no family history of pulmonary or systemic disease. Her routine blood test results revealed a white blood cell count of 4.6 × 109/L (normal range, [4.4-10.1] × 109/L), a hemoglobin level of 7.76 mmol/L (normal range, 7.26-9.18 mmol/L), a platelet count of 189 × 109/L (normal range, [170-380] × 109/L), a bilirubin level of 8 µmol/L (7-19 µmol/L), and a creatinine level of 63 µmol/L (45-82 µmol/L), all within normal limits. Lung function tests at presentation yielded normal results, with a diffusing capacity for carbon monoxide of 95% and a forced vital capacity of 2.29 (98% predicted value). However, this patient had an elevated serum globulin level of 47 g/L (normal range, 26-32 g/L) and an erythrocyte sedimentation rate of 36 mm/h (normal range, 0-20 mm/h), while C-reactive protein level was normal at less than 0.35 mg/dL. She was seropositive for antinuclear (titer >1/720), anti-Ro, anti-La, and anti-extractable nuclear antigen antibodies. Chest radiography and CT were performed at presentation (Figs 1, 2) and 14-year follow-up (Figs 3, 4). PET/CT was performed at 7- (Fig 5, A and B) and 13-year follow-up (Fig 5, C and D). Throughout this 14-year follow-up period, she remained completely free of respiratory symptoms and continued to go for a brisk walk every day. At 14-year follow-up, there was no substantial change in serum laboratory values, but a lung function test revealed her diffusing capacity for carbon monoxide had decreased to 52%, while her forced vital capacity remained good at 95%; these findings were suggestive of interval development of restrictive lung function.

Accuracy of ultrasound in the characterisation of deep soft tissue masses: a prospective study.

PURPOSE: To investigate the accuracy of ultrasound in characterising the type of mass and likelihood of malignancy in deep soft tissue masses. METHODS: Five hundred seventy-nine deep soft tissue masses were prospectively studied by ultrasound. Masses (n = 137) with prior MRI or CT were not included. Following ultrasound examination, the likely nature of the mass as well as the confidence of the reporting radiologist ('fully confident' versus 'not fully confident') about the ultrasound diagnosis was recorded. Clinical and ultrasound diagnoses were compared with the histological diagnosis which was available in 134 (23%) of the 579 masses. RESULTS: Compared with histology, clinical and ultrasound accuracy for characterising the type of mass were 47% and 88% respectively when all differential diagnoses were considered. The radiologist was fully confident regarding the type of 436 (75%) of 579 masses and, in this setting, for those cases that could be compared with histology, diagnostic accuracy was 96%. For the remaining masses, where the radiologist was not fully confident, accuracy compared with histology was 58% for the first differential diagnosis and 80% for all differential diagnoses. For identifying malignancy, sensitivity, specificity, and positive and negative predictive value of ultrasound were 97%, 58%, 67%, and 99% respectively. Ultrasound alone was considered sufficient for diagnostic workup in over half of all deep soft tissue masses. CONCLUSION: Ultrasound is useful at characterising and recognising malignancy in deep soft tissue masses. Provided local practice patterns are favourable, ultrasound may be considered a first-line investigation in the diagnostic workup of deep soft tissue masses. KEY POINTS: • In three-quarters of cases, one can be fully confident about characterising the nature of deep soft tissue masses on ultrasound and, for those fully confident cases that could be compared with histology, the diagnostic accuracy of ultrasound was 96%. • Ultrasound can correctly recognise nearly all malignant deep soft tissue masses but some benign masses will also be considered possibly malignant. • Ultrasound alone was considered sufficient for imaging workup in over half of deep soft tissue masses.

Accuracy of ultrasound in the characterization of superficial soft tissue tumors: a prospective study.

OBJECTIVE: To prospectively evaluate the accuracy of ultrasound in defining the specific nature of superficial soft tissue masses as well as determining malignancy. MATERIALS AND METHOD: Eight hundred twenty-three superficial soft tissue masses were prospectively evaluated with ultrasound by one of five experienced musculoskeletal radiologists. The radiologist at the time of examination provided one to three specific differential diagnoses and the perceived level of confidence with regard to each diagnosis. Clinical and ultrasound diagnoses were compared with the histological diagnosis to determine accuracy. Tumor malignancy was determined by histology or clinical/imaging follow-up. RESULTS: Histological correlation was present for 219 (26.6%) of the 823 masses. Compared with histology, the accuracy of clinical and ultrasound examination for determining specific tumor type was 25.6% and 81.2% respectively considering all differential diagnoses provided. Radiologists were "fully confident" with the ultrasound diagnosis in 585 (71.1%) of 823 masses overall. In this setting, when compared with histology, the diagnostic accuracy of ultrasound was 95.5%. When the radiologist was "not fully confident," accuracy was 41.3% for the first differential diagnosis and 60.9% for all differential diagnoses. Diagnostic accuracy improved with increasing radiologist experience. Sensitivity, specificity, positive predictive value, and negative predictive value of ultrasound for identifying malignant tumor were 93.3%, 97.9%, 45.2%, and 99.9% respectively. CONCLUSIONS: One can be "fully confident" at characterizing over two-thirds of superficial soft tissue masses based on ultrasound appearances and, in this setting, diagnostic accuracy is very high. Ultrasound examination is also highly accurate at discriminating benign from malignant superficial soft tissue masses.