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[PMID]: 25406187
[Au] Autor:Izumchenko E; Sun K; Jones S; Brait M; Agrawal N; Koch W; McCord CL; Riley DR; Angiuoli SV; Velculescu VE; Jiang WW; Sidransky D
[Ad] Address:Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland....
[Ti] Title:Notch1 mutations are drivers of oral tumorigenesis.
[So] Source:Cancer Prev Res (Phila);8(4):277-86, 2015 Apr.
[Is] ISSN:1940-6215
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Disruption of NOTCH1 signaling was recently discovered in head and neck cancer. This study aims to evaluate NOTCH1 alterations in the progression of oral squamous cell carcinoma (OSCC) and compare the occurrence of these mutations in Chinese and Caucasian populations. We used a high-throughput PCR-based enrichment technology and next-generation sequencing (NGS) to sequence NOTCH1 in 144 samples collected in China. Forty-nine samples were normal oral mucosa from patients undergoing oral surgery, 45 were oral leukoplakia biopsies, and 50 were chemoradiation-naïve OSCC samples with 22 paired-normal tissues from the adjacent unaffected areas. NOTCH1 mutations were found in 54% of primary OSCC and 60% of premalignant lesions. Importantly, almost 60% of patients with leukoplakia with mutated NOTCH1 carried mutations that were also identified in OSCC, indicating an important role of these clonal events in the progression of early neoplasms. We then compared all known NOTCH1 mutations identified in Chinese patients with OSCC with those reported in Caucasians to date. Although we found obvious overlaps in critical regulatory NOTCH1 domains alterations and identified specific mutations shared by both groups, possible gain-of-function mutations were predominantly seen in Chinese population. Our findings demonstrate that premalignant lesions display NOTCH1 mutations at an early stage and are thus bona fide drivers of OSCC progression. Moreover, our results reveal that NOTCH1 promotes distinct tumorigenic mechanisms in patients from different ethnical populations. Cancer Prev Res; 8(4); 277-86. ©2014 AACR. See related perspectives, p. 259 and p. 262.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1504
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1158/1940-6207.CAPR-14-0257

  2 / 1956533 MEDLINE  
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[PMID]: 25834519
[Au] Autor:Waiswa M; Seremba E; Ocama P; Ddungu H; Opio K; Okello C; O'shea T; Verhovsek M; Mutyabule R
[Ad] Address:Department of Medicine, Makerere University College of Health Sciences, Mulago Hospital, Kampala, Uganda....
[Ti] Title:Splanchnic venous thrombosis driven by a constitutively activated JAK2 V617F philadelphia-negative myeloproliferative neoplasm: a case report.
[So] Source:Afr Health Sci;14(4):1069-73, 2014 Dec.
[Is] ISSN:1729-0503
[Cp] Country of publication:Uganda
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Splanchnic venous thrombosis (SVT) has varied etiology with Philadelphia-negative myeloproliferative neoplasms (MPNs) being the most frequent underlying prothrombotic factor. Hematological indices often remain within normal range because of portal hypertension and its sequelae, causing diagnostic challenges. The high frequency of JAK2 mutation among patients with SVT reinforces the diagnostic utility of JAK2V617F testing. CASE REPORT: We report a case of a 62-year-old black man with progressive abdominal swelling and features of decompensated chronic liver disease found to have SVT-portal vein thrombosis and how JAK2 V617F was useful in unmasking an underlying myeloproliferative neoplasm. CONCLUSION: A high index of suspicion for an underlying prothrombotic factor is critical for patients presenting with thrombosis in unusual sites. This is useful in prognostic stratification and patient outcomes. JAK2 mutation screening is now part of the standard diagnostic workup in SVT.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1504
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.4314/ahs.v14i4.39

  3 / 1956533 MEDLINE  
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[PMID]: 25829661
[Au] Autor:Podduturi V; Guileyardo JM
[Ad] Address:Department of Pathology, Baylor University Medical Center at Dallas.
[Ti] Title:Mixed epithelial and stromal tumors of the kidney discovered incidentally at autopsy.
[So] Source:Proc (Bayl Univ Med Cent);28(2):224-6, 2015 Apr.
[Is] ISSN:0899-8280
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mixed epithelial and stromal tumors (MEST) of the kidney are uncommon neoplasms that were added to the World Health Organization's renal tumor classification in 2004. These entities are biphasic and contain both epithelial and mesenchymal components. MEST most commonly occur in women. Presented are two cases of MEST incidentally discovered at autopsy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1504
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Da] Date of entry for processing:150401
[St] Status:PubMed-not-MEDLINE

  4 / 1956533 MEDLINE  
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[PMID]: 25829735
[Au] Autor:Puranik AD; Purandare NC; Bal MM; Agrawal A; Shah S; Rangarajan V
[Ad] Address:Department of Nuclear Medicine and Molecular Imaging, Tata Memorial Hospital, Mumbai, Maharashtra, India....
[Ti] Title:FDG PET/CT detects benign neurofibromas presenting as nodal masses: Imaging hallmarks of a diagnostic "red herring".
[So] Source:Indian J Nucl Med;30(2):148-50, 2015 Apr-Jun.
[Is] ISSN:0972-3919
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Multi-modality positron emission tomography/computed tomography (PET/CT) with 18F-fluoro-deoxy-glucose (FDG) depicts the enhancement pattern and metabolic intensity of lesions. Benign lesions with multiplicity, like neurofibromas often mimic similar appearing malignant neoplasms. We, report, a similar case where FDG PET/CT shows imaging hallmarks for diagnosing benign neurofibromas, in a patient with clinical presentation of lymphoma.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1504
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Da] Date of entry for processing:150401
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.4103/0972-3919.152979

  5 / 1956533 MEDLINE  
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[PMID]: 25825577
[Au] Autor:Behera V; Randive M; Sharma P; Nair V
[Ad] Address:Department of Internal Medicine, Armed Forces Medical College, Pune, 411040 India....
[Ti] Title:Megaloblastic anemia presenting with massive reversible splenomegaly.
[So] Source:Indian J Hematol Blood Transfus;31(2):297-9, 2015 Jun.
[Is] ISSN:0971-4502
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Megaloblastic anemia (MA) is a common disorder with varied manifestations. It generally results in mild to moderate splenomegaly which is due to sequestration of macrocytic erythrocytes in spleen. Massive splenomegaly is generally seen in infections, myeloproliferative diseases, neoplasms, storage disorders or hematological conditions; but is not heard of and has rarely been reported in MA. We discuss a case of massive splenomegaly who presented with symptomatic anemia and was found to have MA. He was extensive evaluated for all other causes of massive splenomegaly which was normal. Further, after a therapeutic trial of MA he showed a regression in spleen size confirming that the massive splenomegaly was attributable to MA.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1503
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Da] Date of entry for processing:150331
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1007/s12288-014-0461-6

  6 / 1956533 MEDLINE  
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[PMID]: 25661242
[Au] Autor:Magaki S; Gardner T; Khanlou N; Yong WH; Salamon N; Vinters HV
[Ad] Address:Section of Neuropathology, Department of Pathology and Laboratory Medicine, University of California, Los Angeles (UCLA) Medical Center, Los Angeles, CA 90095-1732, USA. Electronic address: smagaki@mednet.ucla.edu....
[Ti] Title:Brain biopsy in neurologic decline of unknown etiology.
[So] Source:Hum Pathol;46(4):499-506, 2015 Apr.
[Is] ISSN:1532-8392
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Brain biopsies have an uncertain role in the diagnosis of patients with dementia or neurologic decline of unknown etiology. They are often performed only after an exhaustive panel of less invasive tests and procedures have failed to provide a definitive diagnosis. The objective of this study was to evaluate the sensitivity of brain biopsies in this patient group through the retrospective analysis of 53 brain biopsies performed for neurologic disease of unknown etiology at a single tertiary care institution between December 2001 and December 2011. Patients with known nonlymphomatous neoplasms thought to be associated with the neurologic symptoms or with immunodeficiency were excluded from the study. Furthermore, the clinical presentation, imaging and laboratory tests were compared between diagnostic groups to identify factors more likely to yield a diagnosis. Sixty percent of the biopsies were diagnostic (32 of 53), with the most common histologic diagnosis of central nervous system lymphoma in 14 of 53 patients (26% of total) followed by infarct in four subjects (7.5%). A few patients were found to have rare and unsuspected diseases such as lymphomatosis cerebri, neurosarcoidosis and neuroaxonal leukodystrophy. Complications from biopsy were uncommon and included hemorrhage and infection with abscess formation at the biopsy site. These results suggest that brain biopsies may be useful in difficult cases in which less invasive measures have been unable to yield a definitive diagnosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1503
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Js] Journal subset:IM
[St] Status:In-Data-Review

  7 / 1956533 MEDLINE  
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[PMID]: 25785345
[Au] Autor:Yamauchi H; Sakurai S; Nakazawa N; Yoshida T; Tabe Y; Saitoh K; Fukasawa T; Kiriyama S; Naitoh H; Kuwano H
[Ad] Address:1 Department of Surgery and.
[Ti] Title:A case of mixed adenoneuroendocrine carcinoma of the stomach with focal intestinal metaplasia and hypergastrinemia.
[So] Source:Int Surg;100(3):562-7, 2015 Mar.
[Is] ISSN:0020-8868
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract:Among neuroendocrine neoplasms, mixed exocrine and endocrine characteristics with at least 30% of each component are classified into mixed adenoneuroendocrine carcinoma (MANEC), according to the 2010 World Health Organization classification. We experienced a rare case of MANEC of the stomach with focal intestinal metaplasia and hypergastrinemia. A 76-year-old Japanese male was diagnosed as having gastric adenocarcinoma and underwent total gastrectomy. The pathologic diagnosis was MANEC of the stomach accompanied by unusual mucosal atrophy without Helicobacter pylori infection, the characteristics of which were different from both type A and type B atrophic gastritis. The patient has a history of long-term use of a proton pump inhibitor. Additional serum chemistry examination using preoperatively obtained plasma from the patient revealed hypergastrinemia. The mechanism of gastric MANEC carcinogenesis is still unclear, but that might be correlated with unusual intestinal metaplasia and hypergastrinemia in this case.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1503
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.9738/INTSURG-D-14-00074.1

  8 / 1956533 MEDLINE  
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[PMID]: 25781442
[Au] Autor:Nan H; Hutter CM; Lin Y; Jacobs EJ; Ulrich CM; White E; Baron JA; Berndt SI; Brenner H; Butterbach K; Caan BJ; Campbell PT; Carlson CS; Casey G; Chang-Claude J; Chanock SJ; Cotterchio M; Duggan D; Figueiredo JC; Fuchs CS; Giovannucci EL; Gong J; Haile RW; Harrison TA; Hayes RB; Hoffmeister M; Hopper JL; Hudson TJ; Jenkins MA; Jiao S; Lindor NM; Lemire M; Le Marchand L; Newcomb PA; Ogino S; Pflugeisen BM; Potter JD; Qu C; Rosse SA; Rudolph A; Schoen RE; Schumacher FR; Seminara D; Slattery ML; Thibodeau SN; Thomas F; Thornquist M; Warnick GS; Zanke BW; Gauderman WJ; CCFR; GECCO
[Ad] Address:Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis2Indiana University Melvin and Bren Simon Cancer Center, Indianapolis....
[Ti] Title:Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants.
[So] Source:JAMA;313(11):1133-42, 2015 Mar 17.
[Is] ISSN:1538-3598
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:IMPORTANCE: Use of aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) is associated with lower risk of colorectal cancer. OBJECTIVE: To identify common genetic markers that may confer differential benefit from aspirin or NSAID chemoprevention, we tested gene × environment interactions between regular use of aspirin and/or NSAIDs and single-nucleotide polymorphisms (SNPs) in relation to risk of colorectal cancer. DESIGN, SETTING, AND PARTICIPANTS: Case-control study using data from 5 case-control and 5 cohort studies initiated between 1976 and 2003 across the United States, Canada, Australia, and Germany and including colorectal cancer cases (n=8634) and matched controls (n=8553) ascertained between 1976 and 2011. Participants were all of European descent. EXPOSURES: Genome-wide SNP data and information on regular use of aspirin and/or NSAIDs and other risk factors. MAIN OUTCOMES AND MEASURES: Colorectal cancer. RESULTS: Regular use of aspirin and/or NSAIDs was associated with lower risk of colorectal cancer (prevalence, 28% vs 38%; odds ratio [OR], 0.69 [95% CI, 0.64-0.74]; P = 6.2 × 10(-28)) compared with nonregular use. In the conventional logistic regression analysis, the SNP rs2965667 at chromosome 12p12.3 near the MGST1 gene showed a genome-wide significant interaction with aspirin and/or NSAID use (P = 4.6 × 10(-9) for interaction). Aspirin and/or NSAID use was associated with a lower risk of colorectal cancer among individuals with rs2965667-TT genotype (prevalence, 28% vs 38%; OR, 0.66 [95% CI, 0.61-0.70]; P = 7.7 × 10(-33)) but with a higher risk among those with rare (4%) TA or AA genotypes (prevalence, 35% vs 29%; OR, 1.89 [95% CI, 1.27-2.81]; P = .002). In case-only interaction analysis, the SNP rs16973225 at chromosome 15q25.2 near the IL16 gene showed a genome-wide significant interaction with use of aspirin and/or NSAIDs (P = 8.2 × 10(-9) for interaction). Regular use was associated with a lower risk of colorectal cancer among individuals with rs16973225-AA genotype (prevalence, 28% vs 38%; OR, 0.66 [95% CI, 0.62-0.71]; P = 1.9 × 10(-30)) but was not associated with risk of colorectal cancer among those with less common (9%) AC or CC genotypes (prevalence, 36% vs 39%; OR, 0.97 [95% CI, 0.78-1.20]; P = .76). CONCLUSIONS AND RELEVANCE: In this genome-wide investigation of gene × environment interactions, use of aspirin and/or NSAIDs was associated with lower risk of colorectal cancer, and this association differed according to genetic variation at 2 SNPs at chromosomes 12 and 15. Validation of these findings in additional populations may facilitate targeted colorectal cancer prevention strategies.
[Mh] MeSH terms primary: Anti-Inflammatory Agents, Non-Steroidal/therapeutic use
Aspirin/therapeutic use
Colorectal Neoplasms/prevention & control
Gene-Environment Interaction
Polymorphism, Single Nucleotide
[Mh] MeSH terms secundary: Case-Control Studies
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 15
Colorectal Neoplasms/genetics
Female
Genetic Markers
Genotype
Humans
Male
Risk Factors
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, N.I.H., INTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Anti-Inflammatory Agents, Non-Steroidal); 0 (Genetic Markers); R16CO5Y76E (Aspirin)
[Em] Entry month:1503
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:150318
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2015.1815

  9 / 1956533 MEDLINE  
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[PMID]: 25582499
[Au] Autor:Singhi AD; Seethala RR; Nason K; Foxwell TJ; Roche RL; McGrath KM; Levy RM; Luketich JD; Davison JM
[Ad] Address:Department of Pathology, the University of Pittsburgh Medical Center, Pittsburgh, PA 15213. Electronic address: singhiad@upmc.edu....
[Ti] Title:Undifferentiated carcinoma of the esophagus: a clinicopathological study of 16 cases.
[So] Source:Hum Pathol;46(3):366-75, 2015 Mar.
[Is] ISSN:1532-8392
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Undifferentiated carcinoma of the esophagus is a rare histologic variant of esophageal carcinoma. Using criteria based on studies of undifferentiated carcinomas arising at other sites, we have collected 16 cases of resected esophageal undifferentiated carcinomas. Patients ranged in age from 39 to 84 years (mean, 65.5 years) and were predominantly male (94%). The tumors were characterized by an expansile growth pattern of neoplastic cells organized in solid sheets and without significant glandular, squamous, or neuroendocrine differentiation. The neoplastic cells had a syncytial-like appearance, little intervening stroma, and patchy tumor necrosis. In a subset of cases, the tumor cells adopted a sarcomatoid (n = 2), rhabdoid (n = 1), or minor component (<5%) of glandular morphology (n = 3). In 1 case, reactive osteoclast-like giant cells were found interspersed among the neoplastic cells. Lymphovascular invasion, perineural invasion, and lymph node metastases were identified in 88%, 56%, and 81% of cases, respectively. In 12 (75%) specimens, the background esophageal mucosa was notable for Barrett esophagus. Consistent with the epithelial nature of these neoplasms, cytokeratin positivity was identified in all cases. In addition, SALL4 expression was present in 8 (67%) of 12 cases. Follow-up information was available for 15 (94%) of 16 patients, all of whom were deceased. Survival after surgery ranged from 1 to 50 months (mean, 11.9 months). Before death, 67% patients had documented locoregional recurrence and/or distant organ metastases. In summary, esophageal undifferentiated carcinomas are aggressive neoplasms and associated with a high incidence of recurrence and/or metastases and a dismal prognosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1503
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Js] Journal subset:IM
[St] Status:In-Data-Review

  10 / 1956533 MEDLINE  
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[PMID]: 25688372
[Au] Autor:Yin W; Zhao Y; Ji YJ; Tong LP; Liu Y; He SX; Wang AQ
[Ad] Address:Department of Microbiology, Fourth Military Medical University, Xi'an, Shaanxi 710032, China....
[Ti] Title:Serum/plasma microRNAs as biomarkers for HBV-related hepatocellular carcinoma in China.
[So] Source:Biomed Res Int;2015:965185, 2015.
[Is] ISSN:2314-6141
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:MicroRNAs (miRNAs) are a group of small RNAs with a fundamental role in the regulation of gene expression. These RNAs have been shown to participate in various cellular and physiological processes, including cellular development, apoptosis, proliferation, and differentiation. Aberrant expression of several miRNAs was found to be involved in a large variety of neoplasms, including hepatocellular carcinoma (HCC). Previous studies have shown the existence of a large amount of stable miRNAs in human serum/plasma, which laid the foundation for studying the role of serum/plasma miRNAs in the diagnosis and prognosis of HCC. Here, we review the recent progress in research on serum miRNAs as biomarkers for HCC in Chinese patients.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Entry month:1502
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1155/2015/965185


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