Purpose: The purpose of this study was to determine factors predictive of tumour recurrence, or refracture, following curettage as treatment for pathological fracture of the proximal humerus through a benign bone lesion.

Methods: From a cohort of patients held on a national database the factors predictive of recurrence following surgical curettage in patients with pathological fractures through benign bone tumours of the proximal humerus were examined. Thirty nine cases were identified. The diagnosis was simple bone cyst in 27 patients (69.2%), aneurysmal bone cyst in 4 patients (10.3%), (en)chondroma in 4 patients (10.3%), giant cell tumour in 2 patients (5.1%), benign chondroblastoma in 1 patient (2.6%) and fibroma in 1 patient (2.6%). The mean age was 16.5 years and 70% were male.

Results: Most of the patients presented with a history of trauma (77%). Five patients were excluded as their fractures were not treated with surgical curettage. Twenty two patients (65%) had recurrence of the lesion or re-fracture following curettage. None of the patients in whom the fracture occurred after skeletal maturity had a recurrence. Obliteration of the lesion occurred more frequently in those with greatest initial fracture displacement on pre-operative radiographs and in those with impacted fractures. The average time to union and obliteration of the lesion was 4 months (range 1 to 13 months).

Conclusions: Factors predictive of recurrence following curettage were age under 21 years, undisplaced fractures and fractures without impaction on initial radiographs. Patients with these features should be followed up until obliteration of the lesion or skeletal maturity.

Introduction: In hereditary multiple exostosis (HME) the synthesis of the polysaccharide heparan sulphate (HS) is disrupted. HS-proteoglycans are low affinity receptors involved in fibroblast growth factor signaling. Activation of FGF receptor 3 (FGFr3) on mature chondrocytes leads to growth attenuation rather than stimulation. We tested the hypothesis that in HME chondrocytes with absent or reduced HS-PG synthesis there is impaired response to the FGFr3 ligand and loss of control of chondrocyte proliferation.

Materials and methods: Chondrocytes were harvested from normal growth plate (epiphyseodesis) or HME osteochondroma cartilage cap obtained as surgical discard and cultured to 70% confluence in growth media. Cells were re-plated for experimentation. Growth curves were obtained for cells over a period of 5 days. In addition proliferative responses of healthy and HME chondrocytes were determined after low serum synchronization followed by challenge with FGF 9 (10 and 100ng/ml) and incorporation of BrdU for 2hours every two hours over a twenty eight hour period. Using these techniques it is possible to describe in detail the time dependent entry of cells into S-phase of the cell cycle and compare cell lines and treatment.

Results: Significant differences were observed in the growth characteristics over a five-day period (p< 0.05). Under baseline growing conditions the chondrocytes derived from osteochondroma had a more rapid doubling time when compared with the normal growth plate chondrocyte (2.6+/− 0.6 vs 4.9+/−1.0, p< 0.05). In response to incubation with FGF-9 cells from normal growth plate have a lower peak proportion of cells entering the s-phase than with media alone (7% vs 25%). This inhibition is not observed in chondrocytes from osteochondroma.

Conclusions: It would appear that osteochondroma chondrocytes are resistant to the normal regulatory effect of FGF-9 on cell proliferation. The differential response to FGF may be responsible for the growth differences observed both in-vitro and in-vivo.

This study reports the experience of one treatment centre with routine surveillance MRI following excision of musculoskeletal sarcoma. The case notes, MRI and histology reports for 57 patients were reviewed. The primary outcome was local tumour recurrence detected on either surveillance MRI in asymptomatic patients, or interval MRI in patients with clinical concern. A total of 47 patients had a diagnosis of soft-tissue sarcoma and ten of a primary bone tumour. A total of 13 patients (22%) had local recurrence. Nine were identified on a surveillance scan, and four by interval scans. The cost of surveillance is estimated to be £4414 per recurrence detected if low-grade tumours with clear resection margins are excluded. Surveillance scanning has a role in the early detection of local recurrence of bone and soft-tissue sarcoma.

Aim: The aim of this study was to look at the presenting features, histological grade, size of primary tumour, method of treatment and patient and doctor delays in upper extremity Ewing sarcoma to observe the effects on local recurrence, metastasis and survival.

Methods: 19 patients with upper extremity Ewing sarcoma were identified using the Scottish Bone Tumour Registry which carries clinical, pathological and radiological data on the majority of bone tumours diagnosed in Scotland over the past 50 years.

Results: With increasing tumour Enneking grade at presentation there was a significantly higher mortality (X2=8.0606, p=0.0178). Patients with a higher grade also had an increased trend towards local recurrence (X2=5.1154, p=0.0775). Grade did not seem to influence the occurrence of metastasis. Patients with larger tumours tended to have a higher mortality (50% vs 27% dead at 5 years). All patients presented clinically with pain and all but two complained of some sort of swelling. It was found that there was a trend towards a higher grade in patients presenting with a longer duration of symptoms (X2=4.6269,p=0.0989). No difference in survival was noted between patients undergoing surgery and chemotherapy and patients undergoing radiotherapy and chemotherapy. Disease-free survival was 100% at both 5 and 10 years for Enneking Grade IIA, 56% at 5 and 10 years for Grade IIB and 0% at 5 years for Grade III.

Conclusions: This study re-emphasises the importance of a delay in diagnosis on outcome. Longer symptom duration results in a higher histological grade at presentation. In turn a higher presenting grade is associated with a higher mortality. In agreement with other studies a larger primary tumour correlates with a poorer outcome. Outcomes in terms of survival are comparable for groups treated with adjuvant radiotherapy or surgery.

The Government has set a target of two weeks for referral of suspicious tumours to specialist centres, but what symptoms should raise suspicion of chondrosarcoma and what factors affect survival and local recurrence? A retrospective study of 320 cases of chondrosarcoma from the Scottish Bone Tumour Registry was performed. Presenting symptoms and were related to tumour grade and duration of disease free status and survival. Pain, swelling and loss of function were the most common presenting features. Rapid progression of pain was significantly associated with high-grade tumours. Longer duration of symptoms from onset to presentation was associated with low-grade tumours. High-grade tumour and metastasis at diagnosis were associated with poor prognosis. Thus, patients with a longer history of symptoms actually appear to have longer disease free survival after presentation. Expert opinion should be sought for patients presenting with pain, swelling and loss of function. Practitioners should make prompt referral of patients presenting with pain that is rapidly increasing in severity.

The SCARF osteotomy is a three dimentional osteotomy for hallux valgus. It combines a lateral release of the adductor hallucis with a lateral and plantar displacement of the first metatarsal. The osteotomy is ‘z’ shaped in the lateral view and displacement of the distal fragment is followed by internal fixation.

In this study we set out to determine whether the SCARF osteotomy was an effective method in the correction of moderate to severe hallux valgus deformity. A prospective radiographic study was performed on 22 cases of SCARF osteotomy with an average age of 52 years (range 25–78). Standardised weight bearing anterior-posterior radiographs were taken preoperatively and at six months post operatively.

The American Foot and Ankle Society guidelines were used for all measurements. Measurements were made using overlay acetate sheets to minimise inter and intra observer error.

These were compared to determine changes in the intermetatarsal angle (IMA), hallux valgus angle (HVA), distal metatarsal articular angle (DMAA) and joint congruency angle (JCA). Correction of sesamoid position and metatarsal length changes were also assessed.

The results showed a median reduction of IMA of 6 degrees, HVA of 16 degrees, DMAA of 6 degrees and an improvement in JCA of 11 degrees. Improvement of the lateral sesamoid displacement from beneath the first metatarsal head was seen postoperatively. Metatarsal length was assessed by comparing the ratio of the length of the first to second metatarsal pre and post operatively. No shortening was found. There was no incidence of avascular necrosis or non-union. This study indicates that the SCARF osteotomy produces effective radiological correction of hallux valgus where there is moderate to high degree of deformity. It also improves sesamoid displacement and avoids shortening of the first metatarsal.

Aim

To determine the prevalence and distribution of pain in patients with Charcot-Marie-Tooth disease and the effects of surgery on this pain.

Methods

Members of the Charcot -Marie -Tooth International support group were sent a pain questionnaire. Data about the site, nature, frequency, severity of pain, pain triggers, methods of pain relief and the response to surgery were collected.

Results

There were 399 respondents (233 women and 166 men). The most frequently reported sites of pain were the legs (79%) and feet (77%). Ankle pain was reported by 57%. Walking and exercise were the most frequent pain triggers. Rest was the most common method of modifying pain (60 % of respondents). 32 % found analgesics effective and 39% used heat to relive their pain. The most common sites for surgery were the foot (36%) and ankle (26%). In 43% of patients undergoing foot surgery and 54% of patients undergoing ankle surgery, pain had been increased or introduced following surgery.

Conclusions

Patients with Charcot-Marie-Tooth disease experience significant inherent, and probably neuropathic, pain in addition to pain from mechanical causes. Surgery is unlikely to improve or eliminate pain in these patients. It may introduce pain in some. Surgery should be confined to the treatment of structural problems, as it is often ineffective at relieving pain.

To identify if disease severity and cancer-risk might depend on genotype in Hereditary Multiple Exostoses (HME).

The discovery that the EXT family of tumour suppressor genes is responsible for Hereditary Multiple Exostoses (HME) now enables correlation of clinical features with genetic defects. Genetic epidemiological studies, such as this, may provide additional data of use to the clinician. In most population-based HME cohorts, the incidence of sarcomatous degeneration has been estimated as 1–5%. This is not high, but occurs at a younger age (on average 2–3 decades younger) than chondrosarcoma in the general population. Genetic stratification might allow a very high-risk subgroup to be identified, within which surveillance for neoplastic change in osteochondromas could be concentrated.

In a pilot study, 29 affected individuals from 17 families with HME were screened for EXT mutation, with mutations identified in 12 families. Pedigrees were obtained and a complete assessment of disease severity made. We have since expanded this cohort; a further 71 affected individuals from 34 families with HME have provided detailed pedigree data and undergone a simple clinical examination to assess number of palpable osteo-chondromas. EXT mutation was assessed by means of fluorescent single-strand conformational polymorphism (f-SSCP) screening, followed by sequencing analysis.

Validation of clinical examination : In those who underwent radiographic examination for clinical purposes, number of palpable osteochondromas correlated strongly with number seen on radiographs at 146 anatomical sites (r= 0.814, p< 0.001), validating the usefulness of clinical examination in a population analysis, and negating the need for a radiographic skeletal survey in individuals at risk from malignant change.

The observation that osteochondromas are more frequent in patients with EXT1 than EXT2 mutations is an important message in genetic counselling. If disease severity and cancer risk is greater in individuals with EXT1 mutation, screening for neoplastic change might be targeted on this group, in which lifetime risk of malignant change in osteochondromas could be increased to between 5% and 10%.

We studied the pedigrees of 17 index patients with osteosarcoma, recording malignant disease and cause of death for first- and second-degree relatives. There were seven cancers and five cancer deaths per 2151.5 person-years in first-degree relatives of osteosarcoma patients under the age of 50 years, a significantly greater incidence than in an age- and sex-matched population group (p < 0.001). This excess of malignancy was largely due to two families which fulfilled the criteria for the Li-Fraumeni cancer family syndrome. Both of these families were shown to have the genetic alterations in the p53 gene which have been implicated in this syndrome. Our study suggests that orthopaedic surgeons seeing new cases of osteosarcoma should arrange screening for familial malignancy.