共查询到20条相似文献,搜索用时 31 毫秒
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Daniel Wetterskog Paul M Wilkerson Daniel N Rodrigues Maryou B Lambros Karen Fritchie Mattias K Andersson Rachael Natrajan Arnaud Gauthier Silvana Di Palma Sami Shousha Zoran Gatalica Chantal Töpfer Vesna Vukovic Roger A'Hern Britta Weigelt Anne Vincent‐Salomon Göran Stenman Brian P Rubin Jorge S Reis‐Filho 《Histopathology》2013,62(4):543-550
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Wai Kien Yip Chee Wei Choo Vincent Ching‐Shian Leong Pooi Pooi Leong Mohd Faisal Jabar Heng Fong Seow 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2013,121(10):954-966
Molecular alterations in KRAS, BRAF, PIK3CA, and PTEN have been implicated in designing targeted therapy for colorectal cancer (CRC). The present study aimed to determine the status of these molecular alterations in Malaysian CRCs as such data are not available in the literature. We investigated the mutations of KRAS, BRAF, and PTEN, the gene amplification of PIK3CA, and the protein expression of PTEN and phosphatidylinositol 3‐kinase (PI3K) catalytic subunit (p110α) by direct DNA sequencing, quantitative real‐time PCR, and immunohistochemistry, respectively, in 49 CRC samples. The frequency of KRAS (codons 12, 13, and 61), BRAF (V600E), and PTEN mutations, and PIK3CA amplification was 25.0% (11/44), 2.3% (1/43), 0.0% (0/43), and 76.7% (33/43), respectively. Immunohistochemical staining demonstrated loss of PTEN protein in 54.5% (24/44) of CRCs and no significant difference in PI3K p110α expression between CRCs and the adjacent normal colonic mucosa (p = 0.380). PIK3CA amplification was not associated with PI3K p110α expression level, but associated with male cases (100% of male cases vs 56% of female cases harbored amplified PIK3CA, p = 0.002). PI3K p110α expression was significantly higher (p = 0.041) in poorly/moderately differentiated carcinoma compared with well‐differentiated carcinoma. KRAS mutation, PIK3CA amplification, PTEN loss, and PI3K p110α expression did not correlate with Akt phosphorylation or Ki‐67 expression. KRAS mutation, PIK3CA amplification, and PTEN loss were not mutually exclusive. This is the first report on CRC in Malaysia showing comparable frequency of KRAS mutation and PTEN loss, lower BRAF mutation rate, higher PIK3CA amplification frequency, and rare PTEN mutation, as compared with published reports. 相似文献
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MYB,MYBL1, MYBL2 and NFIB gene alterations and MYC overexpression in salivary gland adenoid cystic carcinoma 下载免费PDF全文
Kana Fujii Takayuki Murase Shintaro Beppu Kosuke Saida Hisashi Takino Ayako Masaki Kei Ijichi Kimihide Kusafuka Yoshiyuki Iida Tetsuro Onitsuka Yasushi Yatabe Nobuhiro Hanai Yasuhisa Hasegawa Hiroshi Inagaki 《Histopathology》2017,71(5):823-834
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Arij Mechergui Wafa Achour Dario Giorgini Rekaya Baaboura Muhamed‐Kheir Taha Assia Ben Hassen 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2013,121(9):843-847
Multilocus sequence typing and pulsed‐field gel electrophoresis were used to type 22 commensal isolates of Neisseria perflava collected by swabbing from neutropenic patients. High genetic diversity was found among our N. perflava clinical isolates. 相似文献
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Multiple and bilateral kidney tumors with clear cells of three different histotypes: A case report with clinicopathologic and molecular study 下载免费PDF全文
Maria Rosaria Raspollini Francesca Castiglione Guido Martignoni Alberto Lapini Liang Cheng Rodolfo Montironi Antonio Lopez‐Beltran 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2016,124(7):619-623
We describe a rare multicentric neoplastic disease arising bilteraly in the kidney. The patient was a 70‐year‐old man, who, during a period of 3 years, was treated for five independent tumors of three histotypes (three multilocular cystic clear cell renal cell neoplasms of low malignant potential, one clear cell renal cell carcinoma, and one clear cell papillary renal cell carcinoma, respectively). Pathologic diagnosis of the reported tumors was confirmed by immunohistochemical analyses, including CD10, CA IX, CK7, AMACR/RACEMASE, and 34 beta E12. Molecular detection of KRAS, BRAF, NRAS, PIK3CA, ALK, ERBB2, DDR2, MAP2K1, RET, and EGFR gene mutational analysis was also performed in all tumors. 相似文献
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Familial adenomatous polyposis‐associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features 下载免费PDF全文
Taiki Hashimoto Reiko Ogawa Akiko Matsubara Hirokazu Taniguchi Kokichi Sugano Mineko Ushiama Teruhiko Yoshida Yae Kanai Shigeki Sekine 《Histopathology》2015,67(5):689-698
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Zoltán Maróti Marketa Sutajova Andreas Gal Hans Gerd Nothwang Andrew E. Czeizel László Tímár Enikö Sólyom 《American journal of medical genetics. Part A》2002,109(3):234-237
Altered plasma levels of lipids and lipoproteins, obesity, hypertension, and diabetes are major risk factors for atherosclerotic cardiovascular disease. To identify genes that affect these traits and disorders, we looked for association between markers in candidate genes (apolipoprotein AII (apo AII), apolipoprotein AI‐CIII‐AIV gene cluster (apo AI‐CIII‐AIV), apolipoprotein E (apo E), cholesteryl ester transfer protein (CETP), cholesterol 7α‐hydroxylase (CYP7a), hepatic lipase (HL), and microsomal triglyceride transfer protein (MTP)) and known risk factors (triglycerides (Tg), total cholesterol (TC), apolipoprotein AI (apo AI), apolipoprotein AII (apo AII), apolipoprotein B (apo B), body mass index (BMI), blood pressure (BP), leptin, and fasting blood sugar (FBS) levels.) A total of 1,102 individuals from the Pacific island of Kosrae were genotyped for the following markers: Apo AII/MspI, Apo CIII/SstI, Apo AI/XmnI, Apo E/HhaI, CETP/TaqIB, CYP7a/BsaI, HL/DraI, and MTP/HhpI. After testing for population stratification, family‐based association analysis was carried out. Novel associations found were: 1) the apo AII/MspI with apo AI and BP levels, 2) the CYP7a/BsaI with apo AI and BMI levels. We also confirmed the following associations: 1) the apo AII/MspI with Tg level; 2) the apo CIII/SstI with Tg, TC, and apo B levels; 3) the Apo E/HhaI E2, E3, and E4 alleles with TC, apo AI, and apo B levels; and 4) the CETP/TaqIB with apo AI level. We further confirmed the connection between the apo AII gene and Tg level by a nonparametric linkage analysis. We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease. © 2002 Wiley‐Liss, Inc. 相似文献
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Relevance of spontaneous fabT mutations to a streptococcal toxic shock syndrome to non‐streptococcal toxic shock syndrome transition in the novel‐type Streptococcus pyogenes isolates that lost a salRK 下载免费PDF全文
Ichiro Tatsuno Ryo Okada Masakado Matsumoto Nanako Hata Hideyuki Matsui Yan Zhang Masanori Isaka Tadao Hasegawa 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2016,124(5):414-424
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BRAFV600E and NRASQ61L/Q61R mutation analysis in metastatic melanoma using immunohistochemistry: a study of 754 cases highlighting potential pitfalls and guidelines for interpretation and reporting 下载免费PDF全文
Hojabr Kakavand Emily Walker Trina Lum James S Wilmott Christina I Selinger Elizabeth Smith Robyn P M Saw Bing Yu Wendy A Cooper Georgina V Long Sandra A O'Toole Richard A Scolyer 《Histopathology》2016,69(4):680-686
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Exon‐Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element 下载免费PDF全文
The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS). Using a specific RNA–protein interaction assay followed by mass spectrometry analysis along with silencing and overexpression of splicing factors, we showed that this mutation affects an exonic bifunctional splicing regulatory element composed by two partially overlapping silencer and enhancer sequences, recognized by hnRNPA1 and Tra2β splicing factors, respectively. The C‐to‐T substitution concomitantly increases hnRNPA1 and weakens Tra2β‐binding sites, leading to pathological E11 skipping. In hybrid minigenes, exon‐specific U1 small nuclear RNAs (ExSpe U1s) that target by complementarity intronic sequences downstream of the donor splice site rescued the E11 skipping defect caused by the c.891C>T mutation. ExSpe U1 lentiviral‐mediated transduction of primary NS keratinocytes from a patient bearing the mutation recovered the correct full‐length SPINK5 mRNA and the corresponding functional lympho‐epithelial Kazal‐type related inhibitor protein in a dose‐dependent manner. This study documents the reliability of a mutation‐specific, ExSpe U1‐based, splicing therapy for a relatively large subset of European NS patients. Usage of ExSpe U1 may represent a general approach for correction of splicing defects affecting skin disease genes. 相似文献
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Verena Sailer Glen Kristiansen 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2014,122(8):690-698
In case of clinical suspicion of a prostate malignancy, a prostate biopsy is the most widely used approach to confirm prostate cancer. Unfortunately, exclusion of prostate cancer is not feasible by means of biopsy and also the negative rate remains consistently high. Here, we review the information the surgical pathologist can still gain from a prostate biopsy in absence of overt carcinoma. 相似文献
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Leia H. Wren Amy W. Chung Gamze Isitman Anthony D. Kelleher Matthew S. Parsons Janaki Amin David A. Cooper Ivan Stratov Marjon Navis Stephen J. Kent 《Immunology》2013,138(2):116-123
Antibody‐dependent cellular cytotoxicity (ADCC) is potentially an effective adaptive immune response to HIV infection. However, little is understood about the role of ADCC in controlling chronic infection in the small number of long‐term slow‐progressors (LTSP) who maintain a relatively normal immunological state for prolonged periods of time. We analysed HIV‐specific ADCC responses in sera from 139 HIV+ subjects not on antiretroviral therapy. Sixty‐five subjects were LTSP, who maintained a CD4 T‐cell count > 500/μl for over 8 years after infection without antiretroviral therapy and 74 were non‐LTSP individuals. The ADCC responses were measured using an natural killer cell activation assay to overlapping HIV peptides that allowed us to map ADCC epitopes. We found that although the magnitude of ADCC responses in the LTSP cohort were not higher and did not correlate with CD4 T‐cell depletion rates, the LTSP cohort had significantly broader ADCC responses compared with the non‐LTSP cohort. Specifically, regulatory/accessory HIV‐1 proteins were targeted more frequently by LTSP. Indeed, three particular ADCC epitopes within the Vpu protein of HIV were recognized only by LTSP individuals. Our study provides evidence that broader ADCC responses may play a role in long‐term control of HIV progression and suggests novel vaccine targets. 相似文献
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Histopathological features of endometrial carcinomas associated with POLE mutations: implications for decisions about adjuvant therapy 下载免费PDF全文
Salwa Bakhsh Mary Kinloch Lien N Hoang Robert A Soslow Martin Köbel Cheng‐Han Lee Jessica N McAlpine Melissa K McConechy C Blake Gilks 《Histopathology》2016,68(6):916-924
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Somaye Bakhtiari Banafsheh Hasanvand Hamid Pajavand Amirhooshang Alvandi Ramin Abiri 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2019,127(7):510-514
Loop‐mediated isothermal amplification (LAMP) is a promising nucleic acid‐based assay for quick, accurate and cost‐effective diagnosis of many infectious agents. The purpose of this study was to assess the diagnostic value of LAMP for rapid and accurate detection of Helicobacter pylori in biopsy specimens. Patients suffering from one or several gastroduodenal disorders were enrolled in the study. Specificity, sensitivity, and the positive and negative predictive values of LAMP were compared with the gold standard result, which was the assembled result of culture, rapid urease test and polymerase chain reaction. Sensitivity, specificity, and the positive and negative predictive values of LAMP in comparison with the gold standard result were 100%, 30.76%, and 87.67% and 100% respectively [%95 CI]. As the diagnostic value of LAMP is favourable, the method is an optimum technique for diagnosis the presence of H. pylori in different clinical and environmental samples. 相似文献