tbuckley/cabot-search huggingface dataset:
O6.07 * FGFR3-TACC3 AND EGFR-SEPT14 GENE FUSIONS IN ADULT GLIOMAS
Authors: A. L. Di Stefano, M. Labussiere, V. Frattini, A. Fucci, B. Boisselier, Y. Schmitt, K. Mokhtari, A. Lasorella, A. Iavarone, M. Sanson
Journal: Neuro-Oncology (2014)

Novel chromosomal rearrangements involving tyrosine-kinase receptors FGFR3 and EGFR and resulting in actionable fusion proteins with strong oncogenic activity have been recently described in glioblastoma (GBM). 602 gliomas [380 grade IV (GBM), 116 grade III, 106 grade II] from the Pitié-Salpêtrière brain tumor bank “Onconeurotheque” were analyzed for the presence of FGFR3-TACC3 and EGFR-SEPT14 by RT-PCR and sequencing . We identified 30 patients with fusion transcripts: 11 (8 GBM, one grade III, two grade II) with FGFR3-TACC3 and 19 (18 GBM and one grade III) with EGFR-SEPT14 fusion, including a GBM patient recurring after standard treatment. None of the 144 IDH1 mutated and 12 IDH2 mutated gliomas (including 28 GBM) had FGFR3-TACC3 or EGFR-SEPT14 fusions (P < 0.0002). EGFR-SEPT14 was associated with EGFR amplification 13/16 cases (81%) (12/14 in GBM EGFR-SEPT14+ vs 79/207 in GBM EGFR-SEPT14-, P = 0.001) and with EGFR vIII variant in 8/15 (53%), whereas none of the FGFR3-TACC3 fusions had EGFR abnormalities (0/8 in GBM FGFR3-TACC3+ vs 79/207 in GBM FGFR3-TACC3-, P = 0.027). Of particular interest, FGFR3-TACC3 positive tumors showed a very strong, diffuse and homogeneous FGFR3 expression by immunostaining, in contrast to fusion negative tumors, suggesting that FGFR3-TACC3 protein is expressed in nearly all tumor cells. In GBM patients, median overall survival was 32.80 months for FGFR3-TACC3+ patients, 25.50 months for EGFR-SEPT14+ patients compared to 17.20 for the other GBM patients (P = 0.60; NS). In conclusion we found that these gene fusions are not restricted to GBM but involve also grade II and III IDH wild-type tumors. Due to their oncogenic activity these genes fusions define a subset of patients that could benefit from specific molecular targeting at recurrence. We are now planning anti-FGFR and anti-EGFR treatment in this preselected population.
The Impact of CD44+CD24- Cells on Non-Sentinel Axillary Lymph Node Metastases in Sentinel Node-Positive Breast Cancer.
Authors: H. Nogi, K. Kawase, Y. Toriumi, H. Fukushima, M. Suzuki, K. Uchida
Journal: Cancer Research (2009)

Abstract Background: Although completion axillary lymph node dissection (CALND) is the standard for evaluating axillary status after identification of a positive sentinel lymph node (SLN) in breast cancer, approximately 30-60% of SLN-positive patients have negative non-SLN. It has been recently demonstrated that the putative breast cancer stem cells with CD44+CD24low/- phenotype are associated with self-renewal and tumorigenic potential. In this study, in order to explore such putative breast cancer stem cells in the SLN, we intended to retrospectively analyze expression of CD44+CD24low/- on metastatic tumor cells within SLN as a predictive factor for positive non-SLN (NSLN).Methods: We tested 271 patients for the SLNs by using serial sectioning and cytokeratin immunohistochemistry (IHC) and hematoxylin-eosin, and identified 67 patients who had a positive SLN biopsy and CALND. CD44 and CD24 expression was detected using IHC. Immunostaining for CD44 and CD24 interpreted as positive if at least 1% of tumor cells show distinct membranous staining. Univariate logistic regression techniques were used to assess significant associations.Results: Twenty-seven patients out of 67 patients (40%) had positive NSLN metastases. Six positive SLNs with micrometastases were not available for evaluation of CD24 and CD44 expression. Out of the 61 patients, 22 (36%), 47 (77%) and 28 (62%) patients had CD24-positive, CD44-positive and CD44+/CD24low/- metastatic tumor cells in SLN, respectively. Positive NSLN metastase was significantly associated with primary tumor size (P=0.004), negative CD24 expression (P=0.04), positive CD44 expression (P=0.04) and CD44+/CD24low/- (P=0.03).Conclusion: This is the first evidence for the existence of the putative stem-like phenotype within the SLN, which is significantly associated with positive NSLN, in early breast cancer patients. Citation Information: Cancer Res 2009;69(24 Suppl):Abstract nr 1160.
Risk Factors for Hip Fracture in White Women
Authors: Steven R. Cummings, Michael C. Nevitt, Warren S. Browner, Katie Stone, Kathleen M. Fox, Kristine E. Ensrud, Jane Cauley, Dennis Black, Thomas M. Vogt
Journal: New England Journal of Medicine (1995)

Many risk factors for hip fractures have been suggested but have not been evaluated in a comprehensive prospective study.
Abstract LB-148: The role of EZH2 in the regulation of the activity of matrix metalloproteinases in prostate cancer cells
Authors: Yong Jae Shin, Jeong-Ho Kim
Journal: Cancer Research (2012)

Abstract Degradation of the extracellular matrix (ECM), a critical step in cancer metastasis, is determined by the balance between MMPs (matrix metalloproteinases) and their inhibitors TIMPs (tissue inhibitors of metalloproteinases). In cancer cells, this balance is shifted towards MMPs, promoting ECM degradation. Here, we show that EZH2 plays an active role in this process by repressing the expression of TIMP2 and TIMP3 in prostate cancer cells. The TIMP genes are derepressed by knockdown of EZH2 expression in human prostate cancer cells but repressed by overexpression of EZH2 in benign human prostate epithelial cells. EZH2 catalyzes H3K27 trimethylation and subsequent DNA methylation of the TIMP gene promoters. Overexpression of EZH2 confers an invasive phenotype on benign prostate epithelial cells; however, this phenotype is suppressed by cooverexpression of TIMP3. EZH2 knockdown markedly reduces the proteolytic activity of MMP-9, thereby decreasing the invasive activity of prostate cancer cells. These results suggest that the transcriptional repression of the TIMP genes by EZH2 may be a major mechanism to shift the MMPs/TIMPs balance in favor of MMP activity and thus to promote ECM degradation and subsequent invasion of prostate cancer cells. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr LB-148. doi:1538-7445.AM2012-LB-148
A Comparative Study of F-18 FDG PET and 201Tl Scintigraphy for Detection of Primary Malignant Bone and Soft-Tissue Tumors
Authors: Yuka Yamamoto, Yoji Kawaguchi, Yoshiro Kawase, Yukito Maeda, Yoshihiro Nishiyama
Journal: Clinical Nuclear Medicine (2011)

The purpose of this study was to compare 2-[F-18]fluoro-2-deoxy-D-glucose (FDG) positron emission tomography (PET) and Tl-201 chloride (Tl) scintigraphy for detection of primary malignant bone and soft-tissue tumors.A total of 40 patients with suspicion of malignant bone and soft-tissue tumors were examined. FDG PET imaging was performed at 1-hour post-FDG injection. Tl planar and single photon emission computed tomography images were acquired 10 minutes (early) and 2 hours (delayed) after injection of Tl. We evaluated FDG and Tl uptake visually and semiquantitatively using standardized uptake value and tumor to contralateral normal tissue ratio on planar images, respectively.Of the 33 patients with malignant tumors, all but 2 liposarcomas showed positive accumulation on FDG PET. However, all 7 benign lesions were also positive on FDG PET. Both early and delayed Tl images were positive for 27 of the 33 malignant tumors. Of the 6 false-negative cases on Tl images, 5 were liposarcomas. Both early and delayed Tl images were negative for 5 of the 7 benign lesions. The sensitivity of FDG PET for detection of primary malignant bone and soft-tissue tumors was 94% and the specificity, 0%. The corresponding values for Tl scintigraphy were 82% and 71%. The mean FDG standardized uptake value in malignant tumors was higher than that in benign lesions, but this difference was not statistically significant. Statistically significant differences were observed between malignant and benign lesions for both early and delayed tumor to contralateral normal tissue ratios.FDG PET was found to be more sensitive than Tl scintigraphy for primary malignant bone and soft-tissue tumors, although it was less specific.
Demonstration of Renal Lithiasis on Technetium-99m MDP Bone Scintigraphy
Authors: &NA; D. NGUYEN
Journal: Clinical Nuclear Medicine (2000)

Renal lithiasis shown on technetium-99m MDP bone scintigraphy is uncommon. The author reports two cases of this unusual finding. Radiographic, computed tomographic, and sonographic correlation in these instances confirms the presence of kidney stones and their uptake of radiotracer. Renal lithiasis is a rare but possible cause of focal technetium-99m MDP uptake in the kidneys.
Abstract 4817: Dietary fiber intake reduces colorectal polyp risk in cigarette smokers.
Authors: Zhenming Fu, Martha J. Shrubsole, Wei Zheng
Journal: Cancer Research (2013)

Abstract BACKGROUND Results regarding the association of dietary fiber intake with colorectal tumor risk remain inconsistent. The association may differ between smokers and nonsmokers. We evaluated this hypothesis in a large colonoscopy-based case-control study. METHODS Dietary fiber intakes were estimated by a food frequency questionnaire designed to capture dietary intakes in the study population. Unconditional logistic regression analysis was used to estimate odds ratios (ORs) and 95% confidence limits (95% CLs) with adjustment for potential confounders. Analysis also was stratified by cigarette-smoking status and sex. RESULTS Overall, colorectal polyps (P-trend &amp;lt; 0.001), including adenoma only (P-trend = 0.006), were associated inversely with high dietary fiber intake. When stratified by smoking status, this inverse association was only observed among tobacco smokers, but not among never smokers, (Pheterogeneity = 0.039) for either males or females and for all participants. The protective effect was observed only among smokers for high-risk adenomas (Pheterogeneity = 0.018) and low-risk adenomas, but not for never smokers. The protective effect was particularly strong for high-risk adenomas in smokers. Consuming more than 19.9 g/day of dietary fiber was associated with a 41-44% decreased risk for high-risk adenomas among smokers (P-trend &amp;lt; 0.001). CONCLUSIONS Cigarette smoking may modify the association of dietary fiber intake and the risk of colorectal polyps, especially high-risk adenoma risk. Citation Format: Zhenming Fu, Martha J. Shrubsole, Wei Zheng. Dietary fiber intake reduces colorectal polyp risk in cigarette smokers. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 4817. doi:10.1158/1538-7445.AM2013-4817
Tc-99m and I-131 Uptake in Widespread Bone Metastases From Undetectable Digestive Adenocarcinoma
Authors: Sami Ajmi, Khadija Ben Ali, Maha Ben Fredj, Nairouz Ghannouchi, Mabrouk Khalifa, Amel Letaief
Journal: Clinical Nuclear Medicine (2011)

We present a case of a 44-year-old man admitted to the hospital because of rapid deterioration of his general condition. Uptake of both Tc-99m pertechnetate and radioiodine 131 was observed in widespread bone metastases. Histologic findings and serum tumor markers excluded thyroid origin and confirmed digestive origin.
Lack of Association between Spermicide Use and Trisomy
Authors: Dorothy Warburton, Rita Hindin Neugut, Anita Lustenberger, Antonina Gullo Nicholas, Jennie Kline
Journal: New England Journal of Medicine (1987)

It has been suggested that the maternal use of spermicidal contraceptives increases the frequency of certain congenital anomalies, including trisomy, but this issue is in dispute. This controversy led us to examine whether the use of spermicidal contraceptives is associated with an increased risk of fetal trisomy. A questionnaire concerning contraceptive use was completed by 13,729 women who were undergoing prenatal fetal chromosome studies but were as yet unaware of the results. Most women were at increased risk of having a trisomic fetus because of their advanced age. Of 154 fetuses with trisomy, 98 had trisomy 21. For each woman (case) with an affected fetus, four controls were selected from among women with chromosomally normal fetuses, matched for maternal age and medical center. Cases and controls were compared by matched-sample maximum-likelihood logistic regression, to examine the association between fetal trisomy and four measures of spermicide use: periconceptional use, timing of last use, duration of last use, and total lifetime use. No evidence was found for an association, either when all types of trisomy were combined or when trisomy 21 alone was considered. All point estimates of odds ratios relating spermicidal exposure to trisomy were approximately 1, and an effect greater than a twofold increase was excluded with 95 percent confidence in the combined-trisomy group for all measures of spermicide use. (N Engl J Med 1987; 317:478–82.)
Ectopic Parathyroid Adenomas
Authors: MOHAMMED MOINUDDIN, CHRISTOPHER WHYNOTT
Journal: Clinical Nuclear Medicine (1996)

Advancements in imaging technology have led to better diagnoses of ectopic parathyroid adenomas. Although surgery is curative in the majority of patients with parathyroid adenomas in normal preoperative locations, imaging is definitely required in ectopic adenomas in the neck and more importantly in the chest. The various imaging modalities used in the diagnosis of parathyroid adenomas are isotopic techniques, MRI, CT, ultrasound, arteriography, and venous sampling for parathormone. This review presents four patients studied with different diagnostic techniques resulting in cures with surgery or arteriographic ablation. The literature survey suggests the sensitivity of Tc-99m MIBI scanning to be more than 90%, MRI 70-75%, and CT scanning slightly lower. On the basis of the authors' experience and a literature review, a combination of MIBI scanning and MRI appears to be the most logical approach. If these two tests do not provide sufficient diagnostic confidence, then CT or a contrast arteriogram should be considered. Recent advances in arteriography/catheters have made angiographic ablation with alcohol or contrast material possible in patients who cannot undergo surgery.
Diagnostic dilemma: Car health
Authors: P. Bryant
Journal: BMJ (1998)

Last bank holiday we headed out of London to enjoy a warm summer evening by the sea. Unfortunately, on the way the car began to show signs of distress and finally, billowing steam from the engine, it spluttered to a halt. We telephoned the emergency breakdown service and were told that there would be a delay of two hours. There was nothing we could do but sit and wait as the last rays of sun disappeared behind the traffic jam which stretched up Brixton Hill.

Eventually a mechanic arrived. Looking at our car disapprovingly, he asked us what the problem was. We stood and watched as he efficiently examined the engine. He instructed us to turn it on and off and finally diagnosed a faulty alternator.

It was not what we had expected. We attempted to understand the problem. Why had it occurred? Why now? How did he know it was the alternator? How could he be sure? Having recently purchased a new alternator we were unconvinced. Why had it not been like this the last time the alternator went wrong? As we continued our questions the conversation became rather difficult. Eventually, he reconsidered the diagnosis. The problem was the fan thermostatand afteran expertpieceofrewiring wewere on our way.

Afterwards, I thought about the situation. The analogy with a dysfunctional consultation was clear. Perhaps we had not given a full history and had missed out important details. Our ideas and experience of broken down cars and of this one in particular had certainly not been considered important. No explanation had been given during examination and finally no attention had been given to the social context of our breakdown. We were disappointed, tired, hungry, and fed up.

A letter was clearly required to the breakdown service expounding the benefits of communication skills training. I composed the letter but began to feel uncomfortable as I debated how to sign it. Would they laugh at the idea that they could learn anything about good communication from a doctor? I decided not to send it.
PTU-126 Mortality Associated With Hepatic Encephalopathy In Patients With Severe Liver Disease
Authors: CL Morgan, S Jenkins-Jones, A Radwan, P Conway, CJ Currie
Journal: Gut (2014)

<h3>Introduction</h3> Despite hepatic encephalopathy (HE) being a common complication of severe liver disease, there are comparatively few data describing the epidemiology of the condition. The aim was to characterise mortality risk for patients with HE. <h3>Methods</h3> The study was conducted using data from the Clinical Practice Research Datalink (CPRD). Patients with a record of first diagnosis of liver disease were identified between 1998 and 2012. Two Cox Proportional Hazard models were generated. The first followed the whole liver disease cohort with HE modelled as a binary time-dependent variable in quarterly segments. The second compared patients identified with HE to non-HE controls matched at a ratio of 1:1 on age, gender, year of first diagnosis of liver disease, liver disease duration and Baveno IV status. <h3>Results</h3> 17,030 patients were identified with a diagnosis of liver disease, of whom 551 (3.2%) had a HE diagnosis. Of patients identified with HE, 304 of 551 (55.2%) died during the follow-up period, compared with 6,693 of 16,479 (40.6%) of those without HE (p &lt; 0.001). In the Cox Proportional Hazard model, the hazard ratio of HE modelled as a time-dependent variable was 1.43 (95% CI 1.20–1.70; p &lt; 0.001) (Table 1). 389 of the 551 HE patients (70.6%) could be matched to non-HE controls. 226 HE patients (58.1%) died during the follow up period compared with 126 (32.4%) controls. The hazard ratio for time to death was 2.28 (95% CI 1.82–2.87; p &lt; 0.001). <h3>Conclusion</h3> HE substantially increased mortality risk in patients with chronic liver disease. <h3>Disclosure of Interest</h3> C. Morgan Consultant for: Norgine; S. Jenkins-Jones Consultant for: Norgine; A. Radwan Employee of: Norgine; P. Conway Employee of: Norgine; C. Currie Consultant for: Norgine.
THU0284 Poncet's Disease in Tuberculous Mastitis, A CASE Report
Authors: G.M. Garcia, P.A. Estrella, F.S. Claridades
Journal: Annals of the Rheumatic Diseases (2014)

<h3>Background</h3> Poncet9s disease, named after a French surgeon, Antonin Poncet, is a rare form of polyarthritis occurring in patients with tuberculous infection. It is an immunological reaction to tuberculoprotein wherein CD4+ cells together with bacterial antigens migrate into the joints after infection thus causing symmetric polyarthritis. Patients would clinically present with fever, malaise, polyarthritis of the large joints such as the knees, ankles and wrists. Around 6% of patients with Poncet9s disease would have erythema nodosum, which is a tender red nodule or lump that is usually seen on both shins produced by inflammation of fat cells under the skin (panniculitis) spontaneously resolving after 3-6 weeks. It is more often associated with extrapulmonary TB infection than pulmonary TB. The diagnosis is largely clinical and is made by excluding other causes of polyarthirits. We report a case of a 39 year old female newly diagnosed with Tuberculous Mastitis via core biopsy, presenting with acute symmetric polyarthritis and erythema nodosum. Polyarthritis workup was unremarkable and symptoms were not relieved by non-steroidal anti-inflammatory drugs and steroids, but had complete resolution of symptoms after 6 weeks of anti-koch9s therapy. To our knowledge, this is the first case report of Poncet9s disease associated with Tuberculous mastitis. <h3>Conclusions</h3> Poncet9s disease is a form of polyarthritis affecting patients with tuberculous infection. It is a diagnosis of exclusion but must be included in differential diagnosis especially in countries/regions where prevalence of <i>M. tuberculosis</i> infection is high. Early initiation of anti-Koch9s therapy is the treatment thus in patients with a background or exposure to tuberculosis with polyarthritis refractory to NSAIDs and steroids, a high index of suspicion for Poncet9s disease is advantageous. <h3>References</h3> Bhargava, Anurag D., et al. Tuberculous Rheumatism (Poncet9s Disease) – A Case Series. Ind. J. Tub., 1998, 45, 215 <h3>Disclosure of Interest</h3> : None declared <h3>DOI</h3> 10.1136/annrheumdis-2014-eular.5507
Stat Bite: Multiple Myeloma Incidence
Authors: A. Harras
Journal: JNCI Journal of the National Cancer Institute (1994)

Journal Article Stat Bite : Multiple Myeloma Incidence Get access Angela Harras Angela Harras Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 86, Issue 1, 5 January 1994, Page 9, https://doi.org/10.1093/jnci/86.1.9 Published: 05 January 1994
PTU-117 Analysis of the incidental diagnosis of inflammatory bowel disease made during the Scottish Bowel Cancer Screening Programme: Abstract PTU-117 Table 1
Authors: M A Zahid, C Noble, C W Lees, J Satsangi, G Wilson, A Lessells
Journal: Gut (2012)

<h3>Introduction</h3> The Scottish Bowel Screening Programme (SBSP) has been running in Scotland since March 2008 in patients aged between 50 and 74. The aim of this study was to quantify the number of new cases of inflammatory bowel disease (IBD) diagnosed as part of the SBSP in South East Scotland. The progression of these patients was also assessed. <h3>Methods</h3> All the patients who had a bowel screening colonosocpy during the first 3 years of SBSP in South East Scotland were identified (screening population 800 000). Histologically confirmed cases of IBD were isolated and information like symptoms at the time of diagnosis, risk factors and initial treatment was collated. The severity of illness was retrospectively assessed using Harvey Bradshaw index and Mayo score for Crohn9s disease (CD) and ulcerative colitis (UC) respectively. The patients9 progress following diagnosis was also assessed. <h3>Results</h3> 51 (1.4%) patients with IBD were diagnosed out of total 3655 procedures performed between June 2008 and April 2011. Of these, 12 (0.3%) patients had previous diagnosis of IBD and were excluded from study. In patients with a new diagnosis of IBD (n=39), significantly more males 30 (77%), with a mean age of 63 at diagnosis, were diagnosed with IBD than females (9–23%), (p&lt;0.001), mean age of 67. 12 (30%) Patients were diagnosed with CD, 16 (41%) had UC and 11 (28.2%) had IBD unclassified (IBDU). The disease location is shown in Abstract PTU-117 table 1. 26 (67%) patients were symptomatic at the time of diagnosis with a mean Mayo score of 2.4 for UC and a mean Harvey Bradshaw score of 1.4 for CD group. 34 (87%) of patients were in remission in the follow-up period of 6 to 30 months. 9 (23%) had no treatment, 19 (48.4%) had oral or topical mesalazine, 4 (10%) had oral steroids while 3 (7.6%) patients required both oral steroids and mesalazine. Five patients were unresponsive to initial therapy (2-CD, 1-UC, 2-IBDU). Among these, three patients required Azathioprine, two had steroids and one required methotrexate after developing inflammatory arthritis. <h3>Conclusion</h3> In this cohort of 3655 patients, IBD was diagnosed in 1.1% of patients. This is in line with published data.<sup>1</sup> There was a preponderance of male patients. When assessed the majority of patients had previous symptoms and following diagnosis their IBD followed a benign course. <h3>Competing interests</h3> None declared. <h3>Reference</h3> 1. <b>Louis-Auguste J</b>, Cohen P, Martin J, <i>et al.</i> New diagnoses of inflammatory bowel disease during bowel cancer screening colonoscopy. <i>Gut</i> 2011;<b>60</b>:A217.