Mazabraud syndrome:benign intramuscular myxoma with fibrous skeletal dysplasia

A 51-year-old woman presented with a soft-tissue swelling of the thigh. A MRI scan of the thigh showed an intramuscular lesion and bone-marrow abnormalities in the femur. A bone scintigraphy and PET/CT-scan showed multiple hotspots in the skeleton. The soft-tissue swelling was excised. Although we initially suspected a malignancy of the thigh with diffuse skeletal metastases, this proved to be a benign myxoma which, together with the skeletal abnormalities, corresponded with a diagnosis of Mazabraud syndrome. This is a rare benign disorder in which intramuscular myxomas are associated with fibrous dysplasia of the skeleton. In the case of asymptomatic fibrous dysplasia a conservative approach is sufficient. In the case of fibrous dysplasia associated with pain, or imminent fracture, a prophylactic surgical intervention is indicated. To avoid anxiety, unnecessary diagnostic procedures and surgery Mazabraud syndrome should be always be considered in the case of an intramuscular tumour associated with concurrent skeletal abnormalities.</p

Lymphovascular invasion quantification could improve risk prediction of lymph node metastases in patients with submucosal (T1b) esophageal adenocarcinoma

AIM: To quantify lymphovascular invasion (LVI) and to assess the prognostic value in patients with pT1b esophageal adenocarcinoma. METHODS: In this nationwide, retrospective cohort study, patients were included if they were treated with surgery or endoscopic resection for pT1b esophageal adenocarcinoma. Primary endpoint was the presence of metastases, lymph node metastases, or distant metastases, in surgical resection specimens or during follow‐up. A prediction model to identify risk factors for metastases was developed and internally validated. RESULTS: 248 patients were included. LVI was distributed as follows: no LVI (n = 196; 79.0%), 1 LVI focus (n = 16; 6.5%), 2–3 LVI foci (n = 21; 8.5%) and ≥4 LVI foci (n = 15; 6.0%). Seventy‐eight patients had metastases. The risk of metastases was increased for tumors with 2–3 LVI foci [subdistribution hazard ratio (SHR) 3.39, 95% confidence interval (CI) 2.10–5.47] and ≥4 LVI foci (SHR 3.81, 95% CI 2.37–6.10). The prediction model demonstrated a good discriminative ability (c‐statistic 0.81). CONCLUSION: The risk of metastases is higher when more LVI foci are present. Quantification of LVI could be useful for a more precise risk estimation of metastases. This model needs to be externally validated before implementation into clinical practice

Het syndroom van Mazabraud: benigne intramusculaire myxomen met fibreuze skeletdysplasie

A 51-year-old woman presented with a soft-tissue swelling of the thigh. A MRI scan of the thigh showed an intramuscular lesion and bone-marrow abnormalities in the femur. A bone scintigraphy and PET/CT-scan showed multiple hotspots in the skeleton. The soft-tissue swelling was excised. Although we initially suspected a malignancy of the thigh with diffuse skeletal metastases, this proved to be a benign myxoma which, together with the skeletal abnormalities, corresponded with a diagnosis of Mazabraud syndrome. This is a rare benign disorder in which intramuscular myxomas are associated with fibrous dysplasia of the skeleton. In the case of asymptomatic fibrous dysplasia a conservative approach is sufficient. In the case of fibrous dysplasia associated with pain, or imminent fracture, a prophylactic surgical intervention is indicated. To avoid anxiety, unnecessary diagnostic procedures and surgery Mazabraud syndrome should be always be considered in the case of an intramuscular tumour associated with concurrent skeletal abnormalities

Individual risk calculator to predict lymph node metastases in patients with submucosal (T1b) esophageal adenocarcinoma: A multicenter cohort study

Background Lymph node metastasis (LNM) is possible after endoscopic resection of early esophageal adenocarcinoma (EAC). This study aimed to develop and internally validate a prediction model that estimates the individual risk of metastases in patients with pT1b EAC. Methods A nationwide, retrospective, multicenter cohort study was conducted in patients with pT1b EAC treated with endoscopic resection and/or surgery between 1989 and 2016. The primary end point was presence of LNM in surgical resection specimens or detection of metastases during follow-up.All resection specimens were histologically reassessed by specialist gastrointestinal pathologists. Subdistribution hazard regression analysis was used to develop the prediction model. The discriminative ability of this model was assessed using the c-statistic. Results 248 patients with pT1b EAC were included. Metastases were seen in 78 patients, and the 5-year cumulative incidence was 30.9% (95% confidence interval [CI] 25.1%-36.8%). The risk of metastases increased with submucosal invasion depth (subdistribution hazard ratio [SHR] 1.08, 95%CI 1.02-1.14, for every increase of 500 μm), lymphovascular invasion (SHR 2.95, 95%CI 1.95-4.45), and for larger tumors (SHR 1.23, 95%CI 1.10-1.37, for every increase of 10mm). The model demonstrated good discriminative ability (c-statistic 0.81, 95%CI 0.75-0.86). Conclusions A third of patients with pT1b EAC experienced metastases within 5 years. The probability of developing post-resection metastases was estimated with a personalized predicted risk score incorporating tumor invasion depth, tumor size, and lymphovascular invasion. This model requires external validation before implementation into clinical practice