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排序方式: 共有342条查询结果,搜索用时 656 毫秒
1.
Detection of genetic alterations in primary bladder carcinoma with dual-color and multiplex fluorescence in situ hybridization 总被引:4,自引:0,他引:4
Stamouli MI Panani AD Ferti AD Petraki C Oliver RT Raptis SA Young BD 《Cancer Genetics and Cytogenetics》2004,149(2):107-113
Cytogenetic studies of bladder cancer have shown several nonrandom aberrations. Numerical aberrations of both sex chromosomes were investigated in 32 primary bladder tumors with bicolor fluorescence in situ hybridization (FISH). Loss of chromosome Y and overrepresentation of chromosome X were observed in subgroups of male patients. Chromosome X was represented normally in female patients. Two of the above primary bladder tumors, a transitional cell carcinoma (TCC) and an adenocarcinoma, were further analyzed with both multiplex FISH (24-color M-FISH) and G-banding. Both cases exhibited 1) common breakpoints on 5q11 approximately q12 and 15q24; 2) involvement of the pericentromeric area of chromosome 13; 3) structural abnormalities of chromosomes 8 and 17, with loss of material on the short arm; 4) structural abnormalities involving chromosome 11; and 5) loss of chromosome Y. The TCC case also exhibited structural abnormalities of chromosome 9, resulting in loss of 9q. The combined G-banding and M-FISH findings could help reveal regions potentially involved in bladder tumorigenesis. 相似文献
2.
We describe a 36-year-old man with advanced multiple myeloma (Salmon and Durie stage III) who developed jaundice and severe cholestasis after a first cure with systemic chemotherapy of vincristine, doxorubicin, and oral dexamethasone (VAD). Serology for hepatitis A, B, and C and for CMV was negative. A liver ultrasound and CT scan showed mild hepatomegaly without evidence of extrahepatic or intrahepatic biliary tree dilatation. A percutaneous liver biopsy revealed perisinusoidal deposits of an abundant slightly eosinophilic, PAS-positive amorphous substance. Immunohistochemistry showed positivity for kappa-light chains and was negative for lambda-light chains, for IgA, IgG, IgM, and IgD immunoglobulins as well as for AA and AL proteins and for amyloid P component. A diagnosis of light chain deposition disease (LCDD) of the liver was made. The patient developed rapid deterioration of liver function, leading to a multisystem dysfunction and death. The occurrence of LCDD in multiple myeloma is close to 5% and myeloma is the underlying disease in two thirds of patients with LCDD. The kidneys are involved in almost all cases of LCDD and renal dysfunction usually reveals the disease. Only three patients with LCDD of the liver without overt renal involvement have been reported so far. This is the first observation of LCDD presenting with jaundice and severe cholestasis shortly after the diagnosis of high tumor mass myeloma, without overt renal involvement, leading rapidly to the patient's death. 相似文献
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KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential 总被引:1,自引:0,他引:1
Kontogianni-Katsarou K Dimitriadis E Lariou C Kairi-Vassilatou E Pandis N Kondi-Paphiti A 《World journal of gastroenterology : WJG》2008,14(12):1891-1897
AIM: To study the association of the frequency and pattern of KIT and PDGFRA mutations and clinicopathological factors in a group of patients with gastrointestinal stromal tumors (GIST). METHODS: Thirty patients with GIST were examined. Exons 9, 11, 13, and 17 of the KIT and exons 12 and 18 of the PDGFRA gene were analyzed for the presence of mutations by PCR amplification and direct sequencing. RESULTS: KIT or PDGFRA mutations were detected in 21 of the 30 patients (70%). Sixteen patients had mutations within KIT exon 11, three within KIT exon 9, and two within PDGFRA exon 18. GISTs with KIT exon 9 mutations were predominantly located in the small intestine, showed a spindle cell phenotype, and were assessed as potentially malignant. GISTs with KIT exon 11 mutations were located in the stomach and intestine, showed mainly a spindle cell phenotype, and were scored as potentially malignant (P 〈 0.05). Tumors with KIT exon 11 codon 557/558 deletion/insertion mutations were found to be associated with a potentially malignant clinical behaviour (P 〈 0.003). GISTs with PDGFRA mutations located in stomach showed a mixed cell phenotype and were classified as of very low or low moderate malignant potential. CONCLUSION: Determination of KIT and PDGFRA mutations should be additional parameters for the better prediction of GISTs clinical behaviour. Tumors with deletion/insertion mutations affecting codons 557/558 of the KIT gene seem to represent a distinct subset of malignant GISTs. 相似文献
5.
Alexandra Kazantzi Lena Costaridou Spyros Skiadopoulos Panayiotis Korfiatis Anna Karahaliou Dimitris Daoussis Andreas Andonopoulos Christina Kalogeropoulou 《Journal of digital imaging》2014,27(3):380-391
In this study, the performance of a recently proposed computer-aided diagnosis (CAD) scheme in detection and 3D quantification of reticular and ground glass pattern extent in chest computed tomography of interstitial lung disease (ILD) patients is evaluated. CAD scheme performance was evaluated on a dataset of 37 volumetric chest scans, considering five representative axial anatomical levels per scan. CAD scheme reliability analysis was performed by estimating agreement (intraclass correlation coefficient, ICC) of automatically derived ILD pattern extent to semi-quantitative disease extent assessment in terms of 29-point rating scale provided by two expert radiologists. Receiver operating characteristic (ROC) analysis was employed to assess CAD scheme accuracy in ILD pattern detection in terms of area under ROC curve (Az). Correlation of reticular and ground glass volumetric pattern extent to pulmonary function tests (PFTs) was also investigated. CAD scheme reliability was substantial for ILD extent (ICC = 0.809) and distinct reticular pattern extent (0.806) and moderate for distinct ground glass pattern extent (0.543), performing within inter-observer agreement. CAD scheme demonstrated high accuracy in detecting total ILD (Az = 0.950 ± 0.018), while accuracy in detecting distinct reticular and ground glass patterns was 0.920 ± 0.023 and 0.883 ± 0.024, respectively. Moderate and statistically significant negative correlation was found between reticular volumetric pattern extent and diffusing capacity, forced expiratory volume in 1 s, forced vital capacity, and total lung capacity (R = −0.581, −0.513, −0.494, and −0.446, respectively), similar to correlations found between radiologists’ semi-quantitative ratings with PFTs. CAD-based quantification of disease extent is in agreement with radiologists’ semi-quantitative assessment and correlates to specific PFTs, suggesting a potential imaging biomarker for ILD staging and management. 相似文献
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Manola KN Georgakakos VN Marinakis T Stavropoulou C Paterakis G Anagnostopoulos NI Pantelias GE Sambani C 《Cancer Genetics and Cytogenetics》2007,173(2):159-163
A reciprocal t(X;12)(p11;p13) was found as the sole clonal abnormality in biphenotypic leukemia with myeloid and B-lymphoid differentiation. With fluorescence in situ hybridization analysis, the ETV6 gene (previously TEL) was found to be translocated intact to the derivative X chromosome; no MLL and BCR/ABL rearrangements were found. The patient achieved complete remission after induction chemotherapy. To our knowledge, this cytogenetic aberration has not been reported previously as a sole abnormality in hematological malignancies. Its presence may suggest an important role in the pathogenesis of biphenotypic leukemia. 相似文献
8.
Marianne Smith Edge Mary Elizabeth Kunkel Jennifer Schmidt Constantina Papoutsakis 《Journal of the Academy of Nutrition and Dietetics》2018,118(6):1106-1127.e9
In the late 20th century, plant breeders began using molecular biology techniques such as recombinant DNA, also known as genetic engineering, along with traditional cross-breeding. Ten plant and one animal food have been approved for commercialization in the United States. Today, foods and ingredients from genetically engineered (GE) crops are present throughout the food supply, which has led to varying levels of acceptance. Much discussion exists among consumers and health professionals about the believability of statements made regarding benefits or risks of GE foods. The aim of this systematic review was to examine the evidence on the association of consumption of GE foods and ingredients derived from them on human health, specifically allergenicity, food safety, pesticide consumption, nutrient adequacy, inflammation, and antibiotic resistance. An expert panel conducted a systematic review on advanced technology in food production. The 30 developed questions focused on effects of human consumption of GE foods and the effects of human consumption of foods containing pesticide residues on human health. Primary research published from 1994 to 2014 were identified using PubMed and Agricultural Online Access databases. Additional studies were identified by searching references of review articles. Twenty-one studies met the inclusion criteria. Relevant research addressed five of 30 questions. Four questions focused on food allergenicity, the fifth on nutrient adequacy, and all received a Grade III (limited/weak) rating. No human studies addressed 25 questions on the consumption of foods produced using genetic engineering technologies on gene translocation, cancer, food safety, phenotype expression, inflammation and inflammatory markers, or antibiotic resistance. These questions received a Grade V (grade not assignable). Evidence from human studies did not reveal an association between adverse health effects and consumption of foods produced using genetic engineering technologies. Although the number of available human studies is small, they support that there are no clear adverse health effects—as they relate to allergenicity and nutrient adequacy—associated with consumption of GE foods. The present systematic review is aligned with a recent report by the National Academy of Sciences that included human and animal research. 相似文献
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10.
John Skoumas Catherine Liontou Christina Chrysohoou Constantina Masoura Konstantinos Aznaouridis Christos Pitsavos Christodoulos Stefanadis 《Atherosclerosis》2014