This article provides an overview of the role of genomics in sarcomas and describes how new methods of analysis and comparative screening have provided the potential to progress understanding and treatment of sarcoma. This article reviews genomic techniques, the evolution of the use of genomics in cancer, the current state of genomic analysis, and also provides an overview of the medical, social and economic implications of recent genomic advances.

Previous research has shown an increase in chromosomal aberrations in patients with worn implants. The type of aberration depended on the type of metal alloy in the prosthesis. We have investigated the metal-specific difference in the level of DNA damage (DNA stand breaks and alkali labile sites) induced by culturing human fibroblasts in synovial fluid retrieved at revision arthroplasty.

All six samples from revision cobalt-chromium metal-on-metal and four of six samples from cobalt-chromium metal-on-polyethylene prostheses caused DNA damage. By contrast, none of six samples from revision stainless-steel metal-on-polyethylene prostheses caused significant damage. Samples of cobalt-chromium alloy left to corrode in phosphate-buffered saline also caused DNA damage and this depended on a synergistic effect between the cobalt and chromium ions.

Our results further emphasise that epidemiological studies of orthopaedic implants should take account of the type of metal alloy used.

Objectives

Guidelines for the management of patients with metastatic bone disease (MBD) have been available to the orthopaedic community for more than a decade, with little improvement in service provision to this increasingly large patient group. Improvements in adjuvant and neo-adjuvant treatments have increased both the number and overall survival of patients living with MBD. As a consequence the incidence of complications of MBD presenting to surgeons has increased and is set to increase further. The British Orthopaedic Oncology Society (BOOS) are to publish more revised detailed guidelines on what represents ‘best practice’ in managing patients with MBD. This article is designed to coincide with and publicise new BOOS guidelines and once again champion the cause of patients with MBD.

We performed a retrospective study of a departmental database to assess the efficacy of a new model of orthopaedic care on the outcome of patients with a fracture of the proximal femur. All 1578 patients admitted to a university teaching hospital with a fracture of the proximal femur between December 2007 and December 2009 were included. The allocation of Foundation doctors years 1 and 2 was restructured from individual teams covering several wards to pairs covering individual wards. No alterations were made in the numbers of doctors, their hours, out-of-hours cover, or any other aspect of standard patient care. Outcome measures comprised 30-day mortality and cause, complications and length of stay. Mortality was reduced from 11.7% to 7.6% (p = 0.007, Cox’s regression analysis); adjusted odds ratio was 1.559 (95% confidence interval 1.128 to 2.156). Reductions were seen in Clostridium difficile colitis (p = 0.017), deep wound infection (p = 0.043) and gastrointestinal haemorrhage (p = 0.033). There were no differences in any patient risk factors (except the prevalence of chronic obstructive pulmonary disease), cause of death and length of stay before and after intervention. The underlying mechanisms are unclear, but may include improved efficiency and medical contact time.

These findings may have implications for all specialties caring for patients on several wards, and we believe they justify a prospective trial to further assess this effect.

Local recurrence along the biopsy track is a known complication of percutaneous needle biopsy of malignant musculoskeletal tumours. In order to completely excise the track with the tumour its identification is essential, but this becomes increasingly difficult over time. In an initial prospective study, 22 of 45 patients (48.8%) identified over a three-month period, treated by resection of a musculoskeletal tumour, had an unidentifiable biopsy site at operation, with identification statistically more difficult after 50 days. We therefore introduced the practice of marking the biopsy site with India ink. In all 55 patients undergoing this procedure, the biopsy track was identified pre-operatively (100%); this difference was statistically significant. We recommend this technique as a safe, easy and accurate means of ensuring adequate excision of the biopsy track.

Cite this article: Bone Joint J 2013;95-B:250–3.

We hypothesised that the use of computer navigation-assisted surgery for pelvic and sacral tumours would reduce the risk of an intralesional margin. We reviewed 31 patients (18 men and 13 women) with a mean age of 52.9 years (13.5 to 77.2) in whom computer navigation-assisted surgery had been carried out for a bone tumour of the pelvis or sacrum. There were 23 primary malignant bone tumours, four metastatic tumours and four locally advanced primary tumours of the rectum. The registration error when using computer navigation was <  1 mm in each case. There were no complications related to the navigation, which allowed the preservation of sacral nerve roots (n = 13), resection of otherwise inoperable disease (n = 4) and the avoidance of hindquarter amputation (n = 3). The intralesional resection rate for primary tumours of the pelvis and sacrum was 8.7% (n = 2): clear bone resection margins were achieved in all cases. At a mean follow-up of 13.1 months (3 to 34) three patients (13%) had developed a local recurrence. The mean time alive from diagnosis was 16.8 months (4 to 48).

Computer navigation-assisted surgery is safe and has reduced our intralesional resection rate for primary tumours of the pelvis and sacrum. We recommend this technique as being worthy of further consideration for this group of patients.

Cite this article: Bone Joint J 2013;95-B:1417–24.

Instability after arthroplasty of the shoulder is difficult to correct surgically. Soft-tissue procedures and revision surgery using unconstrained anatomical components are associated with a high rate of failure. The purpose of this study was to determine the results of revision of an unstable anatomical shoulder arthroplasty to a reverse design prosthesis. Between 2004 and 2007, 33 unstable anatomical shoulder arthroplasties were revised to a reverse design. The mean age of the patients was 71 years (53 to 86) and their mean follow-up was 42 months (25 to 71). The mean time to revision was 26 months (4 to 164). Pain scores improved significantly (pre-operative visual analogue scale (VAS) of 7.2 (sd 1.6); most recent VAS 2.2 (sd 1.9); p = 0.001). There was a statistically significant increase in mean active forward elevation from 40.2° (sd 27.3) to 97.0° (sd 36.2) (p = 0.001). There was no significant difference in internal (p = 0.93) or external rotation (p = 0.40). Radiological findings included notching in five shoulders (15%) and heterotopic ossification of the inferior capsular region in three (9%). At the last follow-up 31 shoulders (94%) were stable. The remaining two shoulders dislocated at 2.5 weeks and three months post-operatively, respectively. According to the Neer rating system, there were 13 excellent (40%), ten satisfactory (30%) and ten unsatisfactory results (30%). Revision of hemiarthroplasty or anatomical total shoulder replacement for instability using a reverse design prosthesis gives good short-term results.

Cite this article: Bone Joint J 2013;95-B:668–72.

Congenital pseudarthrosis of the tibia (CPT) is a rare but well recognised condition. Obtaining union of the pseudarthrosis in these children is often difficult and may require several surgical procedures. The treatment has changed significantly since the review by Hardinge in 1972, but controversies continue as to the best form of surgical treatment. This paper reviews these controversies.

Cite this article: Bone Joint J 2013;95-B:1027–34.

Breast cancer is generally managed surgically with adjuvant agents which include hormone therapy, chemotherapy, radiotherapy and bisphosphonate therapy. However, some of these adjuvant therapies may cause adverse events, including wound infection, neutropenia, bone marrow suppression and fever. The simultaneous presentation of osteonecrosis and osteomyelitis has not previously been described in patients with breast cancer undergoing hormone therapy and chemotherapy.

We report a patient with breast cancer who developed bone infarcts in both legs as well as osteomyelitis in the right distal tibia after treatment which included a modified radical mastectomy, hormone therapy and chemotherapy. Simultaneous osteonecrosis and osteomyelitis should be considered in patients with breast cancer who are receiving chemotherapy and hormone therapy who present with severe bone pain, especially if there have been infective episodes during treatment.

The humerus is a common site for skeletal metastases in the adult. Surgical stabilisation of such lesions is often necessary to relieve pain and restore function. These procedures are essentially palliative and should therefore provide effective relief from pain for the remainder of the patient’s life without the need for further surgical intervention.

We report a retrospective analysis of 35 patients (37 nails) with symptomatic metastases in the shaft of the humerus which were treated by locked, antegrade nailing. There were 27 true fractures (73.0%) and ten painful deposits (27.0%). Relief from pain was excellent in four (11.4%), good in 29 (82.9%) and fair in two (5.7%) on discharge. Function was improved in all but one patient. One case of palsy of the radial nerve was noted. The mean postoperative survival was 7.1 months (0.2 to 45.5) which emphasises the poor prognosis in this group of patients. There were no failures of fixation and no case in which further surgery was required.

Antegrade intramedullary nailing is an effective means of stabilising the humerus for the palliative treatment of metastases. It relieves pain and restores function to the upper limb with low attendant morbidity.

Prospective data on hip fracture from 3686 patients at a United Kingdom teaching hospital were analysed to investigate the risk factors, financial costs and outcomes associated with deep or superficial wound infections after hip fracture surgery.

In 1.2% (41) of patients a deep wound infection developed, and 1.1% (39) had a superficial wound infection. A total of 57 of 80 infections (71.3%) were due to Staphylococcus aureus and 39 (48.8%) were due to MRSA.

No statistically significant pre-operative risk factors were detected. Length of stay, cost of treatment and pre-discharge mortality all significantly increased with deep wound infection. The one-year mortality was 30%, and this increased to 50% in those who developed an infection (p < 0.001). A deep infection resulted in doubled operative costs, tripled investigation costs and quadrupled ward costs.

MRSA infection increased costs, length of stay, and pre-discharge mortality compared with non-MRSA infection.

This is a prospective randomised study comparing the clinical and radiological outcomes of uni- and bipedicular balloon kyphoplasty for the treatment of osteoporotic vertebral compression fractures. A total of 44 patients were randomised to undergo either uni- or bipedicular balloon kyphoplasty. Self-reported clinical assessment using the Oswestry Disability Index, the Roland-Morris Disability questionnaire and a visual analogue score for pain was undertaken pre-operatively, and at three and twelve months post-operatively. The vertebral height and kyphotic angle were measured from pre- and post-operative radiographs. Total operating time and the incidence of cement leakage was recorded for each group.

Both uni- and bipedicular kyphoplasty groups showed significant within-group improvements in all clinical outcomes at three months and twelve months after surgery. However, there were no significant differences between the groups in all clinical and radiological outcomes. Operating time was longer in the bipedicular group (p < 0.001). The incidence of cement leakage was not significantly different in the two groups (p = 0.09).

A unipedicular technique yielded similar clinical and radiological outcomes as bipedicular balloon kyphoplasty, while reducing the length of the operation. We therefore encourage the use of a unipedicular approach as the preferred surgical technique for the treatment of osteoporotic vertebral compression fractures.

Cite this article: Bone Joint J 2013;95-B:401–6.

We identified eight patients of 2900 with a primary malignant bone tumour who had coexisting neurofibromatosis type 1. This was a much higher incidence than would be expected by chance. The patients had a mean age of 22.4 years (9 to 54): five were male. Two patients subsequently developed a second bone sarcoma, one of which was radiation induced. Four of the primary tumours were osteosarcomas, four were spindle-cell sarcomas and one a Ewing’s sarcoma. All the patients were treated with chemotherapy and surgery: six of the eight appear to be cured.

This study suggests a possible relationship between neurofibromatosis type 1 and the development of a bone sarcoma, the increased risk being estimated at eight times that of the normal population. We recommend that further research into this possible link should be considered.

Neurogenic claudication is most frequently observed in patients with degenerative lumbar spinal stenosis. We describe a patient with lumbar epidural varices secondary to obstruction of the inferior vena cava by pathological lymph nodes presenting with this syndrome. Following a diagnosis of follicular lymphoma, successful chemotherapy led to the resolution of the varices and the symptoms of neurogenic claudication.

The lumbar epidural venous plexus may have an important role in the pathogenesis of spinal stenosis. Although rare, epidural venous engorgement can induce neurogenic claudication without spinal stenosis. Further investigations should be directed at identifying an underlying cause.

Autologous retransfusion and no-drainage are both blood-saving measures in total hip replacement (THR). A new combined intra- and post-operative autotransfusion filter system has been developed especially for primary THR, and we conducted a randomised controlled blinded study comparing this with no-drainage.

A total of 204 THR patients were randomised to autologous blood transfusion (ABT) (n = 102) or no-drainage (n = 102). In the ABT group, a mean of 488 ml (sd 252) of blood was retransfused. The mean lowest post-operative haemoglobin level during the hospital stay was higher in the autotransfusion group (10.6 g/dl (7.8 to 13.9) vs 10.2 g/dl (7.5 to 13.3); p = 0.01). The mean haemoglobin levels for the ABT and no-drainage groups were not significantly different on the first day (11.3 g/dl (7.8 to 13.9) vs 11.0 g/dl (8.1 to 13.4); p = 0.07), the second day (11.1 g/dl (8.2 to 13.8) vs 10.8 g/dl (7.5 to 13.3); p = 0.09) or the third day (10.8 g/dl (8.0 to 13.0) vs 10.6 g/dl (7.5 to 14.1); p = 0.15). The mean total peri-operative net blood loss was 1464 ml (sd 505) in the ABT group and 1654 ml (sd 553) in the no-drainage group (p = 0.01). Homologous blood transfusions were needed in four patients (3.9%) in the ABT group and nine (8.8%) in the no-drainage group (p = 0.15). No statistically significant difference in adverse events was found between the groups.

The use of a new intra- and post-operative autologous blood transfusion filter system results in less total blood loss and a smaller maximum decrease in haemoglobin levels than no-drainage following primary THR.

Cite this article: Bone Joint J 2013;95-B:616–22.

Objectives

To determine the morbidity and mortality outcomes of patients presenting with a fractured neck of femur in an Australian context. Peri-operative variables related to unfavourable outcomes were identified to allow planning of intervention strategies for improving peri-operative care.

A total of 157 hindquarter amputations were carried out in our institution during the last 30 years. We have investigated the reasons why this procedure is still required and the outcome. This operation was used as treatment for 13% of all pelvic bone sarcomas. It was curative in 140 and palliative in 17, usually to relieve pain. There were 90 primary procedures (57%) with the remaining 67 following the failure of previous operations to control the disease locally. The indication for amputation in primary disease was for large tumours for which limb-salvage surgery was no longer feasible. The peri-operative mortality was 1.3% (n = 2) and major complications of wound healing or infection arose in 71 (45%) patients. The survival at five years after hindquarter amputation with the intent to cure was 45%, and at ten years 38%. Local recurrence occurred in 23 patients (15%). Phantom pain was a significant problem, and only 20% used their prosthesis regularly. Functional scores were a mean of 57%. With careful patient selection the oncological results and functional outcomes of hindquarter amputation justify its continued use.

Cite this article: Bone Joint J 2013;95-B:127–31.

The October 2012 Oncology Roundup³⁶⁰ looks at: the causes of primary bone tumours; adjuvant chemotherapy in the longer term; vascularised fibular grafts to salvage massive femoral allografts; a new look at old risks; reconstruction with excised irradiated bone; predicting chemosensitivity in osteosarcoma ; and chemotherapy, osteoporosis and the risk of fracture.