To determine whether IDH1 mutations are present in primary and relapsed (local and distal) conventional central chondrosarcomas; and secondly, to assess if loss of p16/CDKN2A is associated with tumour grade progression, 102 tumour samples from 37 patients, including material from presenting and relapse events, were assessed. All wild-type cases for IDH1 R132 substitutions were also tested for IDH2 R172 and R140 alterations. The primary tumour and the most recent relapse sample were tested for p16/CDKN2A by interphase fluorescence in situ hybridisation. An additional 120 central cartilaginous tumours from different patients were also tested for p16/CDKN2A copy number. The study shows that if an IDH1 mutation were detected in a primary central chondrosarcoma, it is always detected at the time of presentation, and the same mutation is detected in local recurrences and metastatic events. We show that p16/CDKN2A copy number variation occurs subsequent to the IDH1 mutation, and confirm that p16/CDKN2A copy number variation occurs in 75 % of high grade central chondrosarcomas, and not in low grade cartilaginous tumours. Finally, p16/CDKN2A copy number variation is seen in both the IDH1 wild-type and mutant cartilaginous central tumours.
Osteosarcoma, the most common primary bone sarcoma, is a genetically complex disease with no widely accepted biomarker to allow stratification of patients for treatment. After a recent report of one osteosarcoma cell line and one tumor exhibiting fibroblastic growth factor receptor 1 (FGFR1) gene amplification, the aim of this work was to assess the frequency of FGFR1 amplification in a larger cohort of osteosarcoma and to determine if this biomarker could be used for stratification of patients for treatment. About 352 osteosarcoma samples from 288 patients were analyzed for FGFR1 amplification by interphase fluorescence in situ hybridization. FGFR1 amplification was detected in 18.5% of patients whose tumors revealed a poor response to chemotherapy, and no patients whose tumors responded well to therapy harbored this genetic alteration. FGFR1 amplification is present disproportionately in the rarer histological variants of osteosarcoma. This study provides a rationale for inclusion of patients with osteosarcoma in clinical trials using FGFR kinase inhibitors.
The reported incidence of local recurrence of peripheral atypical lipomatous tumours is highly variable and is likely to reflect the different inclusion criteria of cases, and the design of previous studies. We aimed to study the incidence of local recurrence of 90 cases of atypical lipomatous tumours and an additional 18 cases of de novo dedifferentiated liposarcoma. All tumours were diagnosed on the basis of MDM2 amplification: all patients had their first treatment in the same specialist sarcoma unit and were followed for a minimum of 60 months. The tumours were diagnosed between 1997 and 2009 and followed until the end of 2014. Seventy cases (78%) of atypical lipomatous tumours were located in the thigh (mean size 195 mm on presentation). Eight atypical lipomatous tumours (8.9%) recurred locally, of which 50% recurred after 60 months. The only two tumours with intralesional excisions recurred. Seven of the eight recurrent tumours were detected by the patient by self‐examination. One case recurred a second time as a dedifferentiated liposarcoma. Seventeen per cent of the de novo dedifferentiated liposarcomas recurred within 60 months of presentation. Extending the study period revealed that atypical lipomatous tumour could recur up to 40 years after the first surgery. Furthermore, of 26 tumours that recurred in the extended study, 27% recurred more than once, and three of the seven that recurred more than once transformed into a dedifferentiated liposarcoma. We recommend that, following post‐operative wound care, patients with atypical lipomatous tumour are referred back to their general practitioner for follow up, but that in the event of a suspected recurrence they have rapid access back to the specialist unit using a ‘supported discharge’ scheme. In the event of an intralesional excision and if a lesion recurs, patients are followed in a specialist unit at regular intervals: whether MRI scanning is a valuable means of monitoring such patients is unclear and requires an evidence base
There is a distinct relationship between the type and grade of in situ neoplasia of the breast and the surrounding CD10-positive myoepithelial cells, suggesting the presence of a 'cross talk' between the two elements.
Trichomonas vaginalis is a sexually transmitted protozoan infection resulting in vulvo-vaginitis and altered vaginal discharge in symptomatic women. Trichomoniasis has been implicated in causing adverse pregnancy outcomes such as low birth weight and pre-term labour. Metronidazole is the recommended first-line treatment for trichomonal infection. Other nitroimidazoles, such as tinidazole, are used as alternative regimens with similar activity but at a greater expense. Treatment failure usually represents patient non-compliance or re-infection, although metronidazole resistance has previously been documented. Antimicrobial susceptibility testing for T. vaginalis is currently not available in the UK. Patients with disease unresponsive to first-line treatments pose a major challenge, as therapeutic options are limited. We present the case of a patient with presumed resistant infection during pregnancy, and the additional treatment issues that this presented.
When the Associate Specialist grade shut in 2008 it left an untenable situation in which some Specialty Doctors were providing the most senior levels of care for patients without recognition of that seniority. Hence in 2021, the Specialist Grade was created as a new national grade for senior specialist and specialty (SAS) doctors. The post provides autonomous working and recognition of seniority for SAS doctors. Becoming a Specialist Grade doctor is not an automatic career progression and must be applied for when a position is created by the employer. The Specialist Grade route has potential to be an alternative but equally rewarding career choice to traditional training.
Discussion/conclusion Despite a robust and clear guideline on epididymo-orchitis our results show that antibiotic prescribing is often incorrect. Furthermore, the work-up for an STI as a cause of epididymo-orchitis is incomplete. P13 WHAT TO DO IN A SYPHILIS OUTBREAKLouise Seppings*, Alan Tang, Fabian Chen. Royal Berkshire Hospital, Reading, UK 10. 1136/sextrans-2015-052126.57 Background/introduction In Autumn 2014 a surprising number of patients were being diagnosed with early syphilis, in the sexual health clinic, Reading. From January 2014 to January 2015 twenty-one early syphilis cases arose. Whereas 2013 totalled 5 cases, which was an average year. Aims/objectives To identify if this constituted an outbreak. Determine why increasing numbers of early syphilis were arising and which patients groups were at risk. To prevent further cases. Methods January to September cases were reviewed retrospectively and then new cases prospectively. Public Health England was notified and an action meeting ensued. Patient behaviours and contact tracing data collected. Letters written to inform healthcare services. Clinic information boards and website updated. Social media and appropriate charity organisations approached to reach target groups. Results Eight presented with primary syphilis, ten with secondary and three with early latent. Eighteen cases were men who have sex with men (MSM), highlighting the main at risk group. Seven of the MSM were HIV positive with three being newly diagnosed. The average number of sexual contacts was twelve with one third using social networking apps to meet. Discussions/conclusions Syphilis outbreak confirmed. MSM patients are the main risk group with one third HIV co-infection, which is a concern. Common usage of social networking apps identified to meet sexual partners, which can involve serosorting. Collaboration between sexual and Public Health teams resulted in raising awareness. Hopefully these measures will reduce the number of cases but it will require close monitoring. Background In 2012 we reported that 30% of heterosexual women attending our service had a positive gonorrhoea (GC) NAAT on pharyngeal sampling, without infection elsewhere. A PPV of 87% has been reported for our pharyngeal samples, but confirmatory GC NAATs remain routinely not available locally. Due to concerns about false positives, we subsequently restricted pharyngeal testing to women at higher risk of infection at this site only and reviewed the findings. Methods All positive GC NAATs in women attending our service from October 2013 to March 2014 were reviewed. Findings were compared to the data from January to July 2012. All NAATs were performed on Roche Cobas 4800. Results There were 36 women in the 2014 sample, compared to 40 in the 2012 sample. Of these, 19 (53%) had a positive GC NAAT on a pharyngeal sample, compared to 17 (43%) in the 2012 sample (p = 0.38). 13 (36%) of women with a positive GC NAAT had the infection detected on pharyngeal swab only in the 2014 sample, compared to 12 (30%) in the 2012 ...
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