Aims. The aims of this study were to determine the diagnostic yield of image-guided biopsy in providing a final diagnosis in patients with suspected infectious spondylodiscitis, to report the diagnostic accuracy of various microbiological tests and histological examinations in these patients, and to report the epidemiology of infectious spondylodiscitis from a country where tuberculosis (TB) is endemic, including the incidence of drug-resistant TB. Methods. A total of 284 patients with clinically and radiologically suspected infectious spondylodiscitis were prospectively recruited into the study. Image-guided biopsy of the vertebral lesion was performed and specimens were sent for various microbiological tests and histological examinations. The final diagnosis was determined using a composite reference standard based on clinical, radiological, serological, microbiological, and histological findings. The overall diagnostic yield of the biopsy, and that for each test, was calculated in light of the final diagnosis. Results. The final diagnosis was tuberculous spondylodiscitis in 250 patients (88%) and pyogenic spondylodiscitis in 22 (7.8%). Six (2.1%) had a noninfectious condition-mimicking infectious spondylodiscitis, and six (2.1%) had no definite diagnosis and improved without specific treatment. The diagnosis was made by image-guided biopsy in 152 patients (56%) with infectious spondylodiscitis. Biopsy was contributory in identifying 132/250 patients (53%) with tuberculous spondylodiscitis, and 20/22 patients (91%) with pyogenic spondylodiscitis. Histological examination was the most sensitive diagnostic modality, followed by Xpert MTB/RIF assay. Conclusion. Image-guided biopsy has a reasonably high diagnostic yield in patients with suspected infectious spondylodiscitis. A combination of histological examination, Xpert MTB/RIF assay, bacterial culture, and sensitivity provides high diagnostic accuracy in a country in which TB is endemic. Cite this article: Bone Joint J 2022;104-B(1):120–126

Aims. Biopsy of the periprosthetic tissue is an important diagnostic tool for prosthetic joint infection (PJI) as it enables the detection of the responsible microorganism with its sensitivity to antibiotics. We aimed to investigate how often the bacteria identified in the tissue analysis differed between samples obtained from preoperative biopsy and intraoperative revision surgery in cases of late PJI; and whether there was a therapeutic consequence. Methods. A total of 508 patients who required revision surgery of total hip arthroplasty (THA) (n = 231) or total knee arthroplasty (TKA) (n = 277) because of component loosening underwent biopsy before revision surgery. The tissue samples collected at biopsy and during revision surgery were analyzed according to the criteria of the Musculoskeletal Infection Society (MSIS). Results. In total, 178 (113 THA, 65 TKA) were classified as infected. The biopsy procedure had a sensitivity of 93.8%, a specificity of 97.3%, a positive predictive value (PPV) of 94.9%, a negative predictive value (NPV) of 96.7%, and an accuracy of 96.1%. Of the 178 infected patients, 26 showed a difference in the detected bacteria from the biopsy and the revision surgery (14.6%). This difference required a change to antibiotic therapy in only two cases (1.1%). Conclusion. Biopsy is a useful tool to diagnose PJI, but there may be a difference in the detected bacteria between the biopsy and revision surgery. However, this did not affect the choice of antibiotic therapy in most cases, rendering the clinical relevance of this phenomenon as low. Cite this article: Bone Joint J 2020;102-B(3):329–335

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

Objectives:. The study goal was to retrospectively evaluate the diagnostic accuracy and complication rates of a fluoroscopically guided motorized core biopsy system in the thoraco-lumbar area. Materials And Methods:. The data of fifty eight (58) patients (28 male & 32 female) with an average age of 42.13 years that underwent biopsy of the spine using a motorized core biopsy system between March 2006 and October 2013 (7.7 years) at a level two teaching institution were retrospectively reviewed. Patient characteristics (age, sex), spinal biopsy level, histology, microbiology and fresh tissue polymerase chain reaction (PCR) diagnosis were considered. Results:. Of the 58 patients biopsied 7 were excluded: three patients had a biopsy taken intra-operatively, two patients had a cervical spine biopsy, one patient had a psoas abscess and one had biopsy of the sacral spine. 38 Lumbar (74%) & 13 thoracic (25.4%) biopsies were evaluated. One patient (1.9%) had slightly more bleeding warranting insertion of Port-o-vac drain. No pneumothorax, paraesthesiae or penetration of the spinal canal was reported. In 35 of 51 histological examinations a diagnosis was achieved (68%); 19 of 51 had positive MC&S (37%). The most common diagnosis was tuberculosis (n=21) 41%, followed by multiple myeloma (n=4) 7.8%, adenocarcinoma (n=3) 5.8%, lymphoma (n=3) 5.8%, chronic osteomyelitis (n=3)5.8%, leiyomyosarcoma (n=1)1.9%. Conclusions:. Our results are comparable to published data with an average of 74% histopathological diagnosis and 0–10% complication rate in published literature. We therefore can conclude that the use of motorized core biopsy system is safe and can achieve acceptable diagnostic yield

Introduction: Seeding of bone or soft tissue tumour along the biopsy tract is a known complication of percutaneous biopsies. Correct surgical management requires preoperative Identification and excision of the biopsy tract at time of surgery. We aim to audit how well biopsy tract sites can be identified preoperatively and investigate factors influencing their Identification. Method: Prospective audit of patients who had tissue biopsies for bone and soft tissue tumours at the RNOH Stanmore and presented for surgery between February and April 2008. Case note analysis, patient history and examination at the time of surgery used to collect data. Results: 13/23 patients had their biopsy tract site accurately identified preoperatively, with a mean time gap of 43 days (6–118) between biopsy and excision. In 10/23 patients the biopsy site could not be accurately identified preoperatively. In these patients the mean time between biopsy and excision was 106 days (55–158) (p=< 0.05). 7 patients had neoadjuvant chemotherapy with a mean time gap of 110 days; in 5/7 the tract site was unidentifiable. One patient had preoperative radiotherapy and the biopsy site was unidentifiable. Discussion: This audit has shown that Identification of the biopsy site is more difficult after 40 days. In order to ensure accurate Identification of the biopsy site an Indian ink tattoo should be considered at time of biopsy. It may be particularly advisable for patients who are likely to require neoadjuvant chemotherapy or preoperative radiotherapy. On this basis we would recommend that all patients have the biopsy site marked at the time of biopsy and a further audit will be carried out to evaluate this change in practice

Aim. The purpose of our study was to see what the microbiological epidemiology of our discitis biopsy specimens were. In doing this we could identify if biopsy served a strategic and necessary purpose in the management of this potentially serious pathology. Methods. At our institution the Combined Orthopaedic and Medical Microbiology Service (COMMS) reviews all patients on antibiotic treatment on a weekly basis and records data prospectively. We present a review of discitis patient data from a 28 month period (August 2008-December 2010). Inclusion criteria included a first diagnosis of discitis, based on a history of pain, raised inflammatory markers (erythrocyte sedimentation rate, C reactive protein), MRI confirmation, radiological biopsy of disc, patients that had spinal procedures and patients that had no spinal procedures. Exclusion criteria included patients who did not have a disc biopsy or MRI scan diagnosis. The outcome measure was discitis biopsy micro-organism. Results. Thirty four cases were included, of which 25 cases were biopsy positive for a micro-organism. There were 11 different micro-organisms seen. The 3 most common micro-organisms were staphylococcus aureus, propionibacter acnes and streptococcus. Conclusion. Radiological disc biopsy reveals variability in micro-organism pathology which will affect antibiotic management, treatment course and prognosis. We recommend radiological disc biopsy at the outset for optimum treatment, from culture sensitive antibiotics. Culture negative biopsies can be treated with consensus based empirical treatment in-line with discitis biopsy epidemiology

Aim. Prosthetic joint infection (PJI) is assessed using clinical history and examination, imaging studies and laboratory investigations which inform diagnostic tools such as that proposed by the European Bone and Joint Infection Society to determine the probability of infection. Infection is often confirmed by microbiology culture and histology from intraoperative samples, but ideally a diagnosis of infection is made preoperatively to guide management decisions. At our institution, a tertiary referral centre for PJI, ultrasound (US)-guided synovial biopsy is routinely used as an adjunct to preoperative joint aspiration. Our aim was to evaluate the sensitivity and specificity of microbiology and histology results from US-guided synovial biopsy samples when compared to intraoperative samples. Method. In this retrospective study we analysed all prosthetic hip and knee US-guided biopsies performed at our institution over a 5 year period between 2018 and 2022. Microbiology and histology results from preoperative biopsy samples were individually compared to microbiology and histology findings from intraoperative samples. Results. 381 biopsies were performed; 281 knee, 100 hip. US-guided biopsy results showed strong positive predictive values (PPVs) in hip biopsies (microbiology PPV (79.3%), histology PPV (85.7%)) and knee biopsies (microbiology PPV (77%), histology PPV (85%)). Biopsies showed low sensitivity in predicting intraoperative findings (hip microbiology sensitivity (62%), hip histology sensitivity (31%), knee microbiology sensitivity (70%), knee histology sensitivity (21%). Biopsies showed high specificity for knee (microbiology specificity (89%), histology specificity (97%)) and hip (microbiology specificity (73%), histology specificity (91%)). Conclusions. This study demonstrates that US-guided biopsy is a valuable diagnostic aid for PJI with high specificities and PPVs. Furthermore US-biopsy is valuable when there is limited fluid for aspiration

The diagnosis of infection following shoulder arthroplasty is notoriously difficult. The prevalence of prosthetic shoulder infection after arthroplasty ranges from 3.9 – 15.4% and the most common infective organism is Cutibacterium acnes. Current preoperative diagnostic tests fail to provide a reliable means of diagnosis including WBC, ESR, CRP and joint aspiration. Fluoroscopic-guided percutaneous synovial biopsy (PSB) has previously been reported in the context of a pilot study and demonstrated promising results. The purpose of this study was to determine the diagnostic accuracy of percutaneous synovial biopsy compared with open culture results (gold standard). This was a multicenter prospective cohort study involving four sites and 98 patients who underwent revision shoulder arthroplasty. The cohort was 60% female with a mean age was 65 years (range 36-83 years). Enrollment occurred between June 2014 and November 2021. Pre-operative fluoroscopy-guided synovial biopsies were carried out by musculoskeletal radiologists prior to revision surgery. A minimum of five synovial capsular tissue biopsies were obtained from five separate regions in the shoulder. Revision shoulder arthroplasty was performed by fellowship-trained shoulder surgeons. Intraoperative tissue samples were taken from five regions of the joint capsule during revision surgery. Of 98 patients who underwent revision surgery, 71 patients underwent both the synovial biopsy and open biopsy at time of revision surgery. Nineteen percent had positive infection based on PSB, and 22% had confirmed culture positive infections based on intra-operative tissue sampling. The diagnostic accuracy of PSB compared with open biopsy results were as follows: sensitivity 0.37 (95%CI 0.13-0.61), specificity 0.81 (95%CI 0.7-0.91), positive predictive value 0.37 (95%CI 0.13 – 0.61), negative predictive value 0.81 (95%CI 0.70-0.91), positive likelihood ratio 1.98 and negative likelihood ratio 0.77. A patient with a positive pre-operative PSB undergoing revision surgery had an 37% probability of having true positive infection. A patient with a negative pre-operative PSB has an 81% chance of being infection-free. PSB appears to be of value mainly in ruling out the presence of peri-prosthetic infection. However, poor likelihood ratios suggest that other ancillary tests are required in the pre-operative workup of the potentially infected patient

The aim of this study was to compare the accuracy of image guided (ultrasound or CT) percutaneous needle biopsy to percutaneous needle biopsy without image guidance in diagnosis of soft tissue tumours. Eighty-eight consecutive patients with soft tissue lesion who were referred to the soft tissue tumour unit underwent percutaneous needle biopsies of their lesion either with image guidance or without. Sixty-one out of these 88 patients subsequently underwent excision of their lesion and the excised specimen was then subjected to histological examination. The accuracy of image guided percutaneous needle biopsy and percutaneous needle biopsy without image was then calculated by comparing the histological results of the needle biopsy to that of excision biopsy. The diagnosis accuracy of image guided percutaneous needle biopsy was 92% (34 out 37) compared to 79% (22 out of 28) for percutaneous needle biopsy without image. In 3 out of the 28 patients who had percutaneous needle biopsy without image guidance, there was insufficient material obtained from the needle biopsy to allow a histological diagnosis. This was not the case with any of the patients who had image guided percutaneous needle biopsy. Conclusion: Using image guidance, either USS or CT scan, improves the diagnostic accuracy of percutaneous needle biopsy and should be the gold standard technique in management of soft tissue tumours. However, if the lesion is palpable and not mobile, the accuracy of percutaneous needle biopsy without image guidance can be up to 79%

We compared the accuracy of image guided (ultrasound or CT) percutaneous core needle biopsy to percutaneous core needle biopsy without image guidance in diagnosis of soft tissue tumours. 140 patients with soft tissue lesion who were referred to a London bone and soft tissue tumour unit underwent percutaneous core needle biopsies of their lesion either with or without image guidance.111 of these 140 patients subsequently had surgical excision. The accuracy of image guided percutaneous biopsy and percutaneous biopsy without image was then calculated by comparing the histological results of the needle biopsy to that of the resection. The diagnosis accuracy of unguided biopsy was 78% (36 out of 46) compared to 95% (62 out of 65) in image guided. In 6 out of the 46 patients who had unguided biopsy, there was insufficient material obtained from the needle biopsy to allow histological diagnosis. This was not the case with any of the patients who had image guided core needle biopsy. Using image guidance, either USS or CT scan, improves the diagnostic accuracy of percutaneous core needle biopsy and must be considered in management of patients with soft tissue tumours

Aim. Diagnosis and isolation of a causative organism is imperative for successful treatment of periprosthetic joint infections (PJI). While there are several diagnostic algorithms using microbiology, serum and synovial markers, the preoperative diagnosis of a low-grade infection remains a challenge, particularly in patients with unsuccessful aspiration. An incisional biopsy may be used in these cases as additional diagnostic tool. In this retrospective study we evaluated microbiological findings, sensitivity, and specificity of open synovial biopsies in cases of inconclusive preoperative diagnostics. Methods. In a retrospective databank analysis (2010–2018), we identified 80 TKAs that underwent an open biopsy because of inconclusive results after applying the CDC Criteria (2010) or the MSIS (2011–2018) for PJI. Infection makers in the serum (C-reactive protein [CRP], leucocytes count and interleukin-6 [IL-6]) and in the synovial aspirate (leucocyte count, percentage of neutrophiles) prior to the biopsy were analyzed. All biopsies were performed by suprapatellar mini-arthrotomy. If a subsequent revision surgery was performed, the isolated organisms in the open biopsy were compared to the results in the revision surgery and sensitivity and specificity were calculated. Serum markers were checked for correlation with a positive result in the open biopsy using Cramer-V and Chi. 2. -Test. Results. A positive result in the open biopsy occurred in 32 cases (40%) while 48 cases (60%) showed no growth of microorganisms. A preoperative elevated serum CRP (≥1mg/dl) showed a significant correlation for a positive biopsy (p=0.04). The odds ratio for a positive biopsy was 2.57 (95% CI 1.02–6.46) with elevated serum CRP. A revision surgery of the TKA with additional tissue sampling was performed in 27 (84%) cases with a positive biopsy and in 32 (67%) cases with a negative biopsy. The intraoperative tissue samples from the revision surgery showed microbial growth in only 52% of cases that were believed to be culture positive from the biopsy results, while positive cultures occurred in 41% of the cases with an initially negative biopsy. Patients with ≥ two cultures of the same microorganism in the biopsy presented a positive result in 73% of their revision surgeries. The open biopsy showed a sensitivity of 48% with a specificity of 62% in our collective if revision surgery was performed. Conclusion. Open biopsy may be considered with inconclusive preoperative serum and synovial fluid diagnostics for PJI, but sensitivity and specificity were rather low in this special collective. Further studies with bigger collectives should be performed to determine potential markers with a higher sensitivity

Surgical biopsies are still considered the gold standard in obtaining tumor tissue samples. In this study, we will analyze the core needle biopsy in the evaluation of musculoskeletal tumors focusing on the accuracy, effectiveness, and safety of this technique in comparison to an open biopsy procedure. This is a retrospective case series at King Abdulaziz Medical City (KAMC). All medical records from all patients who had a core needle biopsy (CNB) for a musculoskeletal mass and eventually underwent excisional biopsy between January 2010 and December 2016 at KAMC were included. Besides patient demographic data, the data extracted included the locations of the suspected mass, type of tissue acquired (bone or soft tissue), number of biopsies, complications reported during the procedure, histopathological report of core needle biopsy. A total of 262 patients who were suspected to have a musculoskeletal tumor were identified. Female to male ratio was (1:1.4) and paediatrics (of 93.1%. The AUC of CNB in comparison to excisional biopsy was 0.86. The most common site of tumor extraction was in lower extremities (47.3%), followed by upper extremities (23.7%), pelvis and gluteal area (19.5%) and spine (9.5%). In conclusion, CNB is cost-effective, safe and minimally invasive in bony and soft tissue lesions in comparison to an open biopsy procedure. Therefore, initiatives are required to implement this procedure to the majority of health care centers

Abstract. Background. Prosthetic joint infection (PJI) is a significant cause of morbidity and mortality following knee replacement surgery. Identifying the causative agent(s) and their antibiotic sensitivities is critical in determining the choice of treatment methods used and the likelihood of successful eradication. This study aimed to investigate:. Whether biopsy alone was superior to aspiration alone in specificity and sensitivity for diagnosing PJI following knee replacement. Whether biopsy identifies the same microbiological flora as aspiration. Methods. We identified consecutive patients passing through our knee infection Multi-Disciplinary Team meeting between December 2014 and March 2020. Data was collated data retrospectively using electronic records. Statistical analysis was performed using Stata (Timberlake, February 2020). Results. 65 of 100 patients identified had both pre-operative aspiration and biopsy. In 29% of positive patients, biopsy identified new or additional organisms not previously identified by aspiration. Aspiration had a sensitivity of 70%, specificity of 88%, positive predictive value of 90.3% and negative predictive value of 64.7%. Biopsy had a sensitivity of 97.5%, specificity of 88%, positive predictive value of 92.9% and negative predictive value of 95.7%. Conclusion. Biopsy is superior to aspiration in the diagnosis of PJI and can be performed safely and successfully. It identifies organisms when aspiration may be negative and identifies additional microorganisms in a polymicrobial setting not identified by aspiration alone (29% of positive cases). We would recommend, where possible, aspiration and biopsy as routine pre-operative sampling in order to identify all causative agents and their susceptibilities prior to embarking on revision surgery

The most appropriate protocol for the biopsy of musculoskeletal tumours is controversial, with some authors advocating CT-guided core biopsy. At our hospital the initial biopsies of most musculoskeletal tumours has been by operative core biopsy with evaluation by frozen section which determines whether diagnostic tissue has been obtained and, if possible, gives the definitive diagnosis. In order to determine the accuracy and cost-effectiveness of this protocol we have undertaken a retrospective audit of biopsies of musculoskeletal tumours performed over a period of two years. A total of 104 patients had biopsies according to this regime. All gave the diagnosis apart from one minor error which did not alter the management of the patient. There was no requirement for re-biopsy. This protocol was more labour-intensive and 38% more costly than CT-guided core biopsy (AU$1804 vs AU$1308). However, the accuracy and avoidance of the anxiety associated with repeat biopsy outweighed these disadvantages

The purpose of this investigation was to evaluate systematically the literature concerning biopsy, MRI signal to noise quotient (SNQ) and clinical outcomes in graft-maturity assessment after autograft anterior cruciate ligament reconstruction (ACLR) and their possible relationships. Methods: The systematic review was reported and conducted according to the PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses) guidelines. Studies through May 2019 evaluating methods of intra-articular ACL autograft maturity assessment were considered for inclusion. Eligible methods were histologic studies of biopsy specimens and conventional MRI studies reporting serial SNQ and/ or correlation with clinical parameters. Ten biopsy studies and 13 imaging studies, with a total of 706 patients, met the inclusion criteria. Biopsy studies show that graft remodeling undergoes an early healing phase, a phase of remodeling or proliferation and a ligamentization phase as an ongoing process even 1 year after surgery. Imaging studies showed an initial increase in SNQ, peaking at approximately 6 months, followed by a gradual decrease over time. There is no evident correlation between graft SNQ and knee stability outcome scores at the short- and long-term follow-up after ACLR. The remodeling of the graft is an ongoing process even 1 year after ACLR, based on human biopsy studies. MRI SNQ peaked at approximately 6 months, followed by a gradual decrease over time. Heterogeneity of the MRI methods and technical restrictions used in the current literature limit prediction of graft maturity and clinical and functional outcome measures by means of MRI graft SNQ after ACLR

Background/Aims: Biopsy of musculo-skeletal tumours is hazardous and, when poorly performed, may compromise limb salvage surgery and patient survival. The aim of this paper is to examine the early management of such patients referred to our unit with particular reference to the biopsy. Methods: We conducted a prospective audit of all patients referred to our musculo-skeletal tumour service during 2002. Inclusion criteria were patients with primary tumours of the musculo-skeletal system. Patients with metastases were excluded. We compared the outcome of patients biopsied prior to referral with that of patients biopsied in a recognised treatment centre. Statistical analysis was performed using the chi-squared test and accepting a p value of 0.05 as significant. Results: One hundred and forty two patients were included. There were 72 men and 70 women with a mean age of 40 years (6–88). The referring surgeon performed biopsies in 29 cases of which 20 were malignant lesions. The senior author biopsied the remaining 113 cases of which 57 were malignant. In 38% of patients biopsied by the referring surgeon definitive treatment was hindered by a badly performed biopsy. In 25 % the definitive treatment had to be changed either to a more radical procedure than would have originally been necessary or to palliative rather than curative intent. Three patients underwent unnecessary amputation. Patients biopsied elsewhere were more likely to a non-diagnostic biopsy (p< 0.0001), more likely to have an incomplete excision (p< 0.0001), more likely to require amputation (p< 0.03) and more likely to require adjuvant radiotherapy (p< 0.05) than those biopsied in our unit. Conclusions: There is a high complication rate when patients with musculo-skeletal tumours are biopsied by surgeons inexperienced in the management of such lesions. These patients are best served by early referral to a specialist centre where the biopsy can be performed quickly, safely and accurately and definitive treatment can be administered

Non-invasive sampling of tumor-derived genetic material in circulation through liquid biopsy may be very beneficial for an accurate diagnosis and evaluation of response to treatment in patients with malignant and benign soft tissue tumors. We previously showed that tumor-derived genomic aberrations can be detected in plasma of patients with leiomyosarcoma (LMS) and leiomyoma (LM). In LMS patients, we also showed that the levels of circulating tumor DNA (ctDNA) correspond with response to treatment. We developed an approach tailored to genomic profile of LMS (characterized by intermediate levels of point mutations and copy number alterations, CNAs). Based on TCGA data, we designed a panel of 89 most frequently mutated genes in LMS, which we profiled in plasma DNA by deep sequencing. In parallel, plasma samples were analyzed by shallow whole genome sequencing for detection of CNAs. With this approach, we detected ctDNA in 71% (20/28) of samples from 6/7 patients with advanced disease with >98% specificity. The combination approach for orthogonal profiling of point mutations and CNAs proved to increase the sensitivity of ctDNA detection. Currently, we seek to further improve the sensitivity of ctDNA detection by refining our capture panel and tracking LMS-specific DNA methylation markers in circulation, in addition to point mutations and CNAs. The ultimate goals of our ctDNA studies are 1) to develop a highly sensitive assay for evaluation of response to therapy and long-term surveillance for patients with LMS, and 2) to develop a blood-based test for accurate pre-operative distinction between LMS and LM. To identify LMS-specific DNA methylation markers, we analyzed a test cohort of 76 LM, 35 uterine LMS and 31 extra-uterine LMS by Illumina Infinium EPIC arrays. We identified differentially methylated CpGs between LM and uterine LMS, and between LM and all LMS using a newly developed custom pipeline in R. The results of this analysis are currently being validated in a new dataset of 41 LM and 153 LMS generated by our group. Recently published (PMID: 34301934) genomic data from new 53 LMS samples are used to refine the panel of the most frequently mutated genes that we identified previously in the LMS TCGA data. Our preliminary analysis of test cohort revealed >270 differentially methylated CpGs between LM and uterine LMS, and >1000 differentially methylated CpGs between LM and all LMS. The preliminary analysis of genomic data shows that the initial panel of 89 frequently mutated genes could be substantially narrowed down to cover only selected tumor suppressor genes. Once validated, these results will be used to refine the ctDNA assay for LMS and LM. Our results point to multiple epigenetic markers that could be used for ctDNA profiling, in addition to point mutations or CNAs. Further validation will allow us to select the most reliable LMS- and LM-specific DNA methylation markers and the most frequently mutated regions across independent datasets, and these markers will be incorporated into our new ctDNA test for a concurrent detection of point mutations, CNAs and DNA methylation markers in circulation

Introduction. Needle guided biopsy of a suspected musculoskeletal malignancy has become increasingly popular as an effective modality for diagnosis. Biopsy performed in a safe manner should be performed in a centre which is also capable of performing the definitive management of such conditions. Our aim was to determine accuracy and success rates of the image guided biopsies performed by our service. Methods. A retrospective review of the Bone and Soft Tissue Sarcoma service database was performed to identify all patients who underwent diagnostic biopsy and to identify the results of such investigations. A biopsy was deemed successful if a sample of the target lesion was sampled at the time of biopsy. The successful biopsies were then classified as diagnostic or non-diagnostic if the diagnosis could be reached from the sampled tissue. Results. 465 of the 1181 new referrals to the Bone and Soft Tissue Sarcoma service in a 4 year period underwent biopsy. 75% (350) were image guided biopsies – 60% (281) ultrasound and 15% (69) CT guided. The rate of successful ultrasound guided biopsy was 94.7% and the rate of a successful diagnostic biopsy was 93.6%. CT guided biopsies were successful in 95.7% and were both successful and diagnostic in 79.7%. Discussion. The rate of a successful diagnostic ultrasound biopsy within our institution reflects the reported rate within the literature. The rate of a successful diagnostic CT guided biopsy is lower however is also consistent with that reported within the literature. Lipomatous and cartilaginous lesions are associated with a more difficult histological diagnosis on biopsy alone which is consistent with our findings. For this reason our institution has stopped performing routine image guided biopsies on these lesions

Introduction Patients with musculo-skeletal tumours require appropriate staging investigations followed by prompt treatment. Biopsy of these lesions is hazardous and, when poorly performed, may compromise limb salvage surgery and patient survival. We examine the early management of such patients referred to our unit with particular reference to the biopsy. Methods We conducted a prospective audit of all patients referred to our musculo-skeletal tumour service during 2002. Inclusion criteria were patients with a tumour of the musculo-skeletal system of unknown tissue diagnosis at presentation. Biopsies were performed either by the referring surgeon or the senior author. Patient demographics were recorded as well as details of the histological diagnosis, the site of the tumour and its stage. We recorded who performed the biopsy, the type of biopsy, the choice of biopsy site, whether or not adequate material was obtained and whether or not a poorly performed biopsy compromised the definitive treatment. We saw 162 patients (83 men and 79 women) with a mean age of 41 years (6 to 85). There were 81 primary bone tumours of which 40 were malignant, 58 primary soft tissue tumours of which 29 were malignant, 15 metastases from unknown primary tumours and eight haematological malignancies. One hundred and thirty-nine tumours were in the extremities, 12 pelvic, six trunk and six spinal. We saw patients at a mean of 11 days after receiving the referral letter. Of the 69 primary malignant tumours we saw 60 (87%) within two weeks and 67 (97%) within four weeks. The referring surgeon had performed biopsies in 29 cases. Results Of the tumours biopsied by other surgeons, adequate diagnostic material was obtained in 75% compared to 99% in those biopsied by us. The biopsy site was suboptimal in 11/29 (38%). Fine needle aspiration (FNA) had been performed in 7/29 with only two (29%) providing diagnostic material. Poorly performed biopsy changed our definitive treatment in 5/29 (17%). Of those four had amputations and one patient received radiotherapy instead of further surgery. Twelve of 29 (41%) patients required re-excision of an incompletely excised tumour. Conclusions Biopsies taken from sub-optimal sites may contaminate surrounding tissues, are frequently non-diagnostic and may compromise limb salvage surgery. FNA is particularly unreliable. We conclude that these patients are best served by early referral to a specialist centre where the biopsy can be performed quickly, safely and accurately

Although most peripheral nerve sheath tumours are benign, some are malignant. The management of malignant tumours usually involves wide excision and is facilitated by knowledge of the diagnosis prior to operation. Imaging modalities, including MRI, give anatomical information but do not distinguish between benign and malignant nerve tumours. We therefore introduced the use of ultrasound guided needle biopsy for suspected nerve tumours to our unit in 2004. Prior to this, excision biopsy was carried out in all cases. We aimed to review our experience with needle biopsy and determine whether it has an effective role in the management of peripheral nerve tumours. All patients who had a needle biopsy for suspected peripheral nerve tumours from January 2004 to December 2011 were identified from our tumour database and clinical notes reviewed. In all cases, biopsy was carried out under ultrasound guidance with local anaesthesia to obtain a 1mm core of tissue. From 25 patients reviewed, 21 (84%) had a successful biopsy. In 3 cases the biopsy was unable to be completed due to pain and in 1 patient insufficient tumour tissue was obtained. 1 patient had a temporary radial nerve palsy following needle biopsy which recovered fully. In biopsies that were successful, 19 (90%) showed a benign peripheral nerve tumour. Following diagnosis of a benign lesion, only 2 patients required to have surgical excision of the tumour due to pain. The remainder were managed non-operatively. In the 2 cases of malignant tumours detected by biopsy, a successful wide surgical excision was performed. Ultrasound guided core needle biopsy appears safe and gives a tissue diagnosis in most cases of suspected peripheral nerve tumours. In malignant cases it facilitates surgical planning, while most benign tumours could be managed non-operatively, therefore avoiding potential complications of nerve surgery