This study examines the presentation, management and outcomes of a series of 10 patients with giant lipomatous tumours (defined as greater than 5 cm diameter) of the hand and forearm who presented to our orthopaedic oncology service. All patients underwent local staging and were discussed at our multidisciplinary tumour meeting prior to definitive surgery. In all cases, neurovascular structures required mobilization in order to excise the tumour. Seven of the tumours were benign lipomas and one was a neural fibrolipoma. The other two were well differentiated lipoma-like liposarcomas/atypical lipomatous tumours. Giant lipomas and well differentiated lipoma-like liposarcomas/atypical lipomatous tumours of the hand and forearm present infrequently and a multidisciplinary approach is recommended in the investigation and surgical management of these patients.

A fusion between fibronectin 1 (FN1) and activin receptor 2A (ACVR2A) has been reported previously in isolated cases of the synovial chondromatosis. To analyse further and validate the findings, we performed FISH and demonstrated recurrent FN1-ACVR2A rearrangements in synovial chondromatosis (57%), and chondrosarcoma secondary to synovial chondromatosis (75%), showing that FN1 and/or AVCRA2 gene rearrangements do not distinguish between benign and malignant synovial chondromatosis. RNA sequencing revealed the presence of the FN1-ACVR2A fusion in several cases that were negative by FISH suggesting that the true prevalence of this fusion is potentially higher than 57%. In soft tissue chondromas, FN1 alterations were detected by FISH in 50% of cases but no ACVR2A alterations were identified. RNA sequencing identified a fusion involving FN1 and fibroblast growth factor receptor 2 (FGFR2) in a case of soft tissue chondroma and FISH confirmed recurrent involvement of both FGFR1 and FGFR2. These fusions were present in a subset of soft tissue chondromas characterised by grungy calcification a feature reminiscent of phosphaturic mesenchymal tumour. However, unlike the latter, fibroblast growth factor 23 (FGF23) mRNA expression was not elevated in soft tissue chondromas harbouring the FN1-FGFR1 fusion. The mutual exclusivity of ACVR2A rearrangements observed in synovial chondromatosis and FGFR1/2 in soft tissue chondromas suggests these represent separate entities. There have been no reports of malignant soft tissue chondromas, therefore differentiating these lesions will potentially alter clinical management by allowing soft tissue chondromas to be managed more conservatively.

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Purpose. We report on the quality of life following treatment for a malignant primary bone tumour around the knee in skeletally immature children.Patients. Patients (n = 41; mean age = 18 years; range 8-28) had all experienced chemotherapy in a neo-adjuvant setting, surgical excision of the tumour and endoprosthetic replacement.Methods. Interviews were conducted separately with the child and mother and focused on mobility, body image and the impact of treatment on schooling, employment and plans for the future.Results. Mobility in the group was variable. Only 12% reported that they could run with any confidence. The proportion who were able to swim (49%) or ride a bike (46%) was higher. All had experienced major disruption in schooling (mean absence following diagnosis = 12 months). Eight had repeated a school year and 41% patients reported that their schoolwork was affected. As a result of their experience, eight (six females and two males) chose health-related employment. Concerns for the future were highest among males and those with manual jobs. Three patients were receiving psychiatric support, in relation to extreme concern about the risk of recurrence. All expressed satisfaction with treatment, and older patients believed that the prosthesis gave a better quality of life than amputation.Discussion. Our data suggest that outcome following limb-salvage surgery is variable. Education is disrupted. Even so, only two left school with no qualifications. Employment is most restricted among males with few qualifications who may benefit from sensitive vocational counselling.