Angiosarcoma With Malignant Peripheral Nerve Sheath Tumour Developing in a Patient With Klippel–Trénaunay–Weber Syndrome

Purpose: We discuss the coexistence of Klippel–Trénaunay–Weber syndrome with various malignancies, the possible histogenetic pathways and therapeutic implications

Data from: Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

Objective: To determine the value of quantitative MRI to provide imaging biomarkers for disease in 20 different upper and lower leg muscles of myotonic dystrophy type 1 (DM1) patients. Methods: We acquired images covering these muscles in 33 genetically and clinically well-characterized DM1 patients and 10 unaffected controls. MR images were recorded with a Dixon method to determine muscle fat fraction, muscle volume and contractile muscle volume, and a multi-spin echo sequence to determine T2 water relaxation time (T2water), reflecting putative oedema. Results: Muscles in DM1 patients had higher fat fractions than muscles of controls (15.6%±11.1% vs. 3.7%±1.5%). Also, patients had smaller muscle volumes (902±232 cm3 vs. 1097±251 cm3), contractile muscle volumes (779±247 cm3 vs. 1054±246 cm3), and increased T2water (33.4±1.0 ms vs. 31.9±0.6 ms), indicating atrophy and oedema, respectively. Lower leg muscles were affected most frequently, especially the gastrocnemius medialis and soleus. Distribution of fat content per muscle indicated gradual fat infiltration in DM1. Between-patient variation in fat fraction was explained by age (~45%), and another ~14% by estimated progenitor CTG repeat length (r2 = 0.485) and somatic instability (r2 = 0.590). Fat fraction correlated with the six-minute walk test (r = -0.553) and muscular impairment rating scale (r = 0.537), and revealed subclinical muscle involvement. Conclusion: This cross-sectional quantitative MRI study of 20 different lower extremity muscles in DM1 patients revealed abnormal values for muscle fat fraction, volume and T2water, which therefore may serve as objective biomarkers to assess disease state of skeletal muscles in these patients

Myxoid liposarcoma of the foot : a study of 8 cases

Introduction Myxoid liposarcoma is the only translocation-associated liposarcoma subtype. It classically originates in the deep soft tissues of the thigh. At distal sites of the extremities, this tumor is exceedingly rare. We present a series of 8 cases occurring in the foot/ankle. Results Two female and 6 male patients, aged between 32 and 77 years (mean, 54.3 years), were identified. Tumor size ranged from 1.1 to 10 cm (mean, 6.8 cm). Two lesions eroded bone. All tumors were treated by excision and 7 by (neo)adjuvant radiotherapy. R0 status was reached in 2 cases with 1 case followed by metastasis in the groin. All other cases were documented with R1 (n = 2) or R2 (n = 4) resection status. In 1 patient, the follow-up status was unknown. All other patients were alive 15-135 (mean, 55.8) months after initial diagnosis. We conclude that myxoid liposarcoma at acral sites are exceedingly rare, and in this series, prognosis was good irrespective of resection status. Clinicians and pathologists have to be aware because this sarcoma type shows a peculiar clinical behavior with high radio- and chemosensitivity and metastatic spread to extrapulmonary sites

Is etoricoxib effective in preventing heterotopic ossification after primary total hip arthroplasty?

Item does not contain fulltextPURPOSE: Heterotopic ossification is a common complication after total hip arthroplasty. Non-steroidal anti-inflammatory drugs (NSAIDs) are known to prevent heterotopic ossifications effectively, however gastrointestinal complaints are reported frequently. In this study, we investigated whether etoricoxib, a selective cyclo-oxygenase-2 (COX-2) inhibitor that produces fewer gastrointestinal side effects, is an effective alternative for the prevention of heterotopic ossification. METHODS: We investigated the effectiveness of oral etoricoxib 90 mg for seven days in a prospective two-stage study design for phase-2 clinical trials in a small sample of patients (n = 42). A cemented primary total hip arthroplasty was implanted for osteoarthritis. Six months after surgery, heterotopic ossification was determined on anteroposterior pelvic radiographs using the Brooker classification. RESULTS: No heterotopic ossification was found in 62 % of the patients that took etoricoxib; 31 % of the patients had Brooker grade 1 and 7 % Brooker grade 2 ossification. CONCLUSIONS: Etoricoxib seems effective in preventing heterotopic ossification after total hip arthroplasty. This finding further supports the use of COX-2 inhibitors for the prevention of heterotopic ossification following total hip arthroplasty

Fatal pericardial tamponade after superior vena cava stenting.

Contains fulltext : 80672.pdf (publisher's version ) (Closed access)We discuss a fatal complication of percutaneous superior vena cava (SVC) self-expandable stent placement in a patient with superior vena cava syndrome (SVCS). The SVCS was caused by a malignant mediastinal mass with total occlusion of the SVC. Twenty-four hours after the procedure, the patient died of a hemopericardial tamponade. In the literature, only seven cases have been described with this life-threatening complication. Patients with a necrotic tumor mass are more likely to develop this complication. Knowledge of this complication may increase patient survival

Clinicopathologic and molecular features of intracranial desmoplastic small round cell tumors

Desmoplastic small round cell tumors (DSRCTs) are highly aggressive sarcomas that most commonly occur intra-abdominally, and are defined by EWSR1-WT1 gene fusion. Intracranial DSRCTs are exceptionally rare with only seven previously reported fusion-positive cases. Herein, we evaluate the clinical, morphologic, immunohistochemical and molecular features of five additional examples. All patients were male (age range 6–25 years; median 11 years), with four tumors located supratentorially and one within the posterior fossa. The histologic features were highly variable including small cell, embryonal, clear cell, rhabdoid, anaplastic and glioma-like appearances. A prominent desmoplastic stroma was seen in only two cases. The mitotic index ranged from <1 to 12/10 HPF (median 5). While all tumors showed strong desmin positivity, epithelial markers such as EMA, CAM 5.2 and other keratins were strongly positive in only one, focally positive in two and negative in two cases. EWSR1-WT1 gene fusion was present in all cases, with accompanying mutations in the TERT promoter or STAG2 gene in individual cases. Given the significant histologic diversity, in the absence of genetic evaluation these cases could easily be misinterpreted as other entities. Desmin immunostaining is a useful initial screening method for consideration of a DSRCT diagnosis, prompting confirmatory molecular testing. Demonstrating the presence of an EWSR1-WT1 fusion provides a definitive diagnosis of DSRCT. Genome-wide methylation profiles of intracranial DSRCTs matched those of extracranial DSRCTs. Thus, despite the occasionally unusual histologic features and immunoprofile, intracranial DSRCTs likely represent a similar, if not the same, entity as their soft tissue counterpart based on the shared fusion and methylation profiles

Clinicopathologic and Molecular Features of Intracranial Desmoplastic Small Round Cell Tumors

Desmoplastic small round cell tumors (DSRCTs) are highly aggressive sarcomas that most commonly occur intra-abdominally, and are defined by EWSR1-WT1 gene fusion. Intracranial DSRCTs are exceptionally rare with only seven previously reported fusion-positive cases. Herein, we evaluate the clinical, morphologic, immunohistochemical, and molecular features of five additional examples. All patients were male (age range 6-25 years; median 11 years), with four tumors located supratentorially and one within the posterior fossa. The histologic features were highly variable including small cell, embryonal, clear cell, rhabdoid, anaplastic, and glioma-like appearances. A prominent desmoplastic stroma was seen in only two cases. The mitotic index ranged from <1 to 12/10 HPF (median 5). While all tumors showed strong desmin positivity, epithelial markers such as EMA, CAM 5.2, and other keratins were strongly positive in only one, focally positive in two, and negative in two cases. EWSR1-WT1 gene fusion was present in all cases, with accompanying mutations in the TERT promoter or STAG2 gene in individual cases. Given the significant histologic diversity, in the absence of genetic evaluation these cases could easily be misinterpreted as other entities. Desmin immunostaining is a useful initial screening method for consideration of a DSRCT diagnosis, prompting confirmatory molecular testing. Demonstrating the presence of an EWSR1-WT1 fusion provides a definitive diagnosis of DSRCT. Genome-wide methylation profiles of intracranial DSRCTs matched those of extracranial DSRCTs. Thus, despite the occasionally unusual histologic features and immunoprofile, intracranial DSRCTs likely represent a similar, if not the same, entity as their soft tissue counterpart based on the shared fusion and methylation profiles