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Chromosome 9p21

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https://www.readbyqxmd.com/read/28901308/utility-of-fluorescence-in-situ-hybridization-analysis-for-detecting-upper-urinary-tract-urothelial-carcinoma
#1
Jiang Yu, Hui Xiong, Chunxiao Wei, Zilian Cui, Xunbo Jin, Jianjun Zhang
OBJECTIVES: The objective of this study was to evaluate the clinical utility of fluorescence in situ hybridization (FISH) in the detection of upper urinary tract-urothelial carcinoma (UUT-UC). METHODS: Between November 2011 and November 2015, voided urine specimens from 52 consecutive patients with UUT-UC and 26 controls were collected for both FISH test and cytology. Sensitivity and specificity of FISH test and cytology were determined and compared. The frequency of chromosomal aberrations was also analyzed...
2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28889373/analysis-of-chromosomal-alterations-in-urothelial-carcinoma
#2
Donatella Conconi, Angela Bentivegna
Here, we describe the use of complementary techniques applicable to different types of samples to analyze chromosomal alterations in urothelial carcinoma. By a conventional chromosome analysis on fresh biopsies, it is possible to delineate the status of ploidy and rough chromosomal aberrations. The multi-target fluorescence in situ hybridization (FISH) UroVysion test, for the rapid detection of chromosomal aneusomy of chromosomes 3, 7, and 17 and/or deletion of 9p21 locus, is applicable to urine specimens as well as to formalin-fixed paraffin-embedded (FFPE) specimens and fresh biopsies...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28862766/genomic-profiles-of-lung-cancer-associated-with-idiopathic-pulmonary-fibrosis
#3
Ji An Hwang, Deokhoon Kim, Sung-Min Chun, SooHyun Bae, Joon Seon Song, Mi Young Kim, Hyun Jung Koo, Jin Woo Song, Woo Sung Kim, Jae Cheol Lee, Hyeong Ryul Kim, Chang-Min Choi, Se Jin Jang
Little is known on the pathogenesis or molecular profiles of idiopathic pulmonary fibrosis-associated lung cancer (IPF-LC). This study was performed to investigate the genomic profiles of IPF-LC and to explore the possibility of defining potential therapeutic targets in IPF-LC. We assessed genomic profiles of IPF-LC using targeted exome sequencing (OncoPanel version 2) in 35 matched tumor/normal pairs surgically resected between 2004 and 2014. Germline and somatic variant calling was performed using GATK HaplotypeCaller and MuTect with GATK SomaticIndelocator, respectively...
September 1, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28829357/peritoneal-mesothelioma-with-residential-asbestos-exposure-report-of-a-case-with-long-survival-seventeen-years-analyzed-by-cgh-array
#4
Gabriella Serio, Federica Pezzuto, Andrea Marzullo, Anna Scattone, Domenica Cavone, Alessandra Punzi, Francesco Fortarezza, Mattia Gentile, Antonia Lucia Buonadonna, Mattia Barbareschi, Luigi Vimercati
Malignant mesothelioma is a rare and aggressive tumor with limited therapeutic options. We report a case of a malignant peritoneal mesothelioma (MPM) epithelioid type, with environmental asbestos exposure, in a 36-year-old man, with a long survival (17 years). The patient received standard treatment which included cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). METHODS AND RESULTS: Molecular analysis with comparative genomic hybridization (CGH)-array was performed on paraffin-embedded tumoral samples...
August 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28816270/-clinical-value-of-fluorescence-in-situ-hybridization-positive-of-exfoliated-urothelial-cells-in-urothelial-carcinoma
#5
J Y Liu, X Peng, X H Ning, T Li, S H Peng, J Y Wang, S J Liu, Y Ding, L Cai, K Gong
OBJECTIVE: To analyze the clinical pathologic characteristics of cases with fluorescence in situ hybridization (FISH) positive of exfoliated urothelial cells, so as to evaluate the clinical utility of FISH in the diagnosis of urothelial carcinoma (UC). METHODS: A total of 271 cases of FISH positive in Department of Urology of Peking University First Hospital from Apr. 2012 to Sep. 2015 were recruited in this study. Retrospective analysis was made on their clinical data...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28805612/detection-of-paternal-uniparental-disomy-9-in-a-neonate-with-prenatally-detected-mosaicism-for-a-small-supernumerary-marker-chromosome-9-and-a-supernumerary-ring-chromosome-9
#6
Chih-Ping Chen, Ming Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Shun-Ping Chang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the association of paternal uniparental disomy (UPD) 9 with mosaicism for a small supernumerary marker chromosome 9 [sSMC(9)] and a supernumerary ring chromosome 9 [r(9)]. MATERIALS AND METHODS: A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar [25]/48,XY,+mar,+r(9) [4]/47,XY,+r(9) [1]/46,XY [6]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of cultured amniocytes revealed a result of de novo 9p13...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28713672/bap1-a-tumor-suppressor-gene-driving-malignant-mesothelioma
#7
REVIEW
Mitchell Cheung, Joseph R Testa
Like cancer generally, malignant mesothelioma (MM) is a genetic disease at the cellular level. DNA copy number analysis of mesothelioma specimens has revealed a number of recurrent sites of chromosomal loss, including 3p21.1, 9p21.3, and 22q12.2. The key inactivated driver genes located at 9p21.1 and 22q12.2 were discovered two decades ago as being the tumor suppressor loci CDKN2A and NF2, respectively. Only relatively recently was the BAP1 gene determined to be the driver gene at 3p21.1 that is somatically inactivated...
June 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28699883/familial-melanoma-astrocytoma-syndrome-synchronous-diffuse-astrocytoma-and-pleomorphic-xanthoastrocytoma-in-a-patient-with-germline-cdkn2a-b-deletion-and-a-significant-family-history
#8
Andrew K Chan, Seunggu J Han, Winward Choy, Daniah Beleford, Manish K Aghi, Mitchel S Berger, Joseph T Shieh, Andrew W Bollen, Arie Perry, Joanna J Phillips, Nicholas Butowski, David A Solomon
Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of the CDKN2A tumor suppressor gene on chromosome 9p21. While some families with germline CDKN2A mutations are prone to development of just melanomas, other families develop both melanomas, astrocytomas, and occasionally other nervous-system neoplasms including peripheral nerve sheath tumors and meningiomas. The histologic spectrum of the astrocytomas that arise as part of this syndrome is not well described, nor are the additional genetic alterations that drive these astrocytomas apart from the germline CDKN2A inactivation...
July 12, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28648937/the-correlation-of-the-standard-5-probe-fish-assay-with-melanocytic-tumors-of-uncertain-malignant-potential
#9
Aaron Muhlbauer, Shabnam Momtahen, Martin C Mihm, James Wang, Cynthia M Magro
BACKGROUND: FISH has recently emerged as a technique to better assess the malignant potential of histologically ambiguous melanocytic lesions. However, the usefulness of FISH has not been conclusively established. The purpose of this study was to further explore the diagnostic value of FISH in distinguishing the borderline melanocytic tumor (BMT) from melanoma. METHOD: 73 cases with BMT were analyzed retrospectively from a dermatopathology database between 2010-2015...
June 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28604969/-genetic-study-of-a-fetus-with-9p-direct-duplication-deletion-syndrome
#10
Shanshan Shi, Shaobin Lin, Xiangying Lou, Weijing Li
OBJECTIVE: To use next generation sequencing (NGS) to identify unknown abnormality of chromosome 9 in a fetus and explore its mechanism. METHODS: A pregnant woman with abnormal fetal ultrasound finding underwent amniocentesis for G-banded chromosomal analysis. Karyotyping was also performed on peripheral blood samples derived from its parents. Fetal blood sample was obtained for NGS testing to identify abnormality unrecognized by karyotyping. RESULTS: Analysis of amniocytes has revealed a 46,XX,der(9)(?::p21 to qter) karyotype, while both parents had a normal karyotype...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28537924/genetic-defects-of-the-irf1-mediated-major-histocompatibility-complex-class-i-antigen-presentation-pathway-occur-prevalently-in-the-jak2-gene-in-non-small-cell-lung-cancer
#11
Tao Shen, Zhengming Chen, Zhizhuang Joe Zhao, Jie Wu
Recognition of major histocompatibility complex (MHC) class I antigens on tumor cells by cytotoxic T cells is involved in T cell-mediated tumor immune surveillance and immune checkpoint therapy. The interferon-γ (IFNγ)-IRF1 signaling pathway regulates MHC class I antigen presentation. To examine genetic defects of the IFNγ-IRF1 pathway in non-small cell lung cancer (NSCLC), we analyzed The Cancer Genome Atlas (TCGA) lung adenocarcinoma (LuAd) and lung squamous cell carcinoma (LuSc) data. Loss-of-function (LOF) genetic alterations of the IFNγ-IRF1 pathway genes (IFNGR1, IFNGR2, JAK1, JAK2, STAT1, IRF1) were found in 64 (6...
May 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28521483/use-of-laser-capture-microdissection-allows-detection-of-loss-of-heterozygosity-in-chromosome-9p-in-breast-cancer
#12
Margarida Figueiredo Dias, Robert Blumenstein, Jose Russo
The present study was designed to determine whether loss of heterozygosity (LOH) in the p arm of chromosome 9 in invasive ductal carcinoma of the breast is detected during the neoplastic progression of the disease. Using laser capture microdissection (LCM) epithelial cells were isolated from 14 invasive ductal carcinoma cases (IDC), ductal carcinomas in situ (DCIS), normal mammary lobules, skin and/or lymph nodes of paraffin embedded tissue sections. LOH analysis of chromosome 9p was performed utilizing the microsatellite markers D9S199, D9S157, D9S171, D9S265 and D9S270...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28459703/novel-cytogenetic-findings-in-a-case-of-mixed-phenotype-acute-leukemia-within-the-context-of-a-complex-karyotype
#13
David Shabsovich, Gary Schiller, Yalda Naeini, Robert Collins, Carlos A Tirado
BACKGROUND: Mixed phenotype acute leukemia (MPAL) is a rare hematological malignancy characterized by combinatorial aberrations involving cells of the myeloid, T-, and/or B- lineages, most often diagnosed by means of immunophenotyping in order to assess lineage-specific markers, which can still yield inconclusive diagnoses. MPAL with a complex karyotype (three or more chromosomal abnormalities) is a cytogenetic subtype of MPAL associated with a poor prognosis, but limited data is available about the cytogenetic abnormalities present in this context...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28443149/inverted-urothelial-papilloma-a-review-of-diagnostic-pitfalls-and-clinical-management
#14
REVIEW
Mary K Sweeney, Soroush Rais-Bahrami, Jennifer Gordetsky
Inverted urothelial papilloma (IUP) is a rare, non-invasive endophytic lesion that accounts for 1-2% of urothelial tumours. On cystoscopy, IUP appears as a pedunculated/papillary mass with a smooth surface. On microscopy, IUP has an endophytic growth pattern with the bulk of the tumour covered by a superficial layer of urothelium, which can be hyperplastic or attenuated. The cytology should be bland, with uniform, spindled cells arranged in anastomosing trabeculae and cords with peripheral palisading of basaloid cells...
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28411192/socioeconomic-status-interacts-with-the-genetic-effect-of-a-chromosome-9p21-3-common-variant-to-influence-coronary-artery-calcification-and-incident-coronary-events-in-the-heinz-nixdorf-recall-study-risk-factors-evaluation-of-coronary-calcium-and-lifestyle
#15
Börge Schmidt, Stefanie Frölich, Nico Dragano, Mirjam Frank, Lewin Eisele, Sonali Pechlivanis, Andreas J Forstner, Markus M Nöthen, Amir A Mahabadi, Raimund Erbel, Susanne Moebus, Karl-Heinz Jöckel
BACKGROUND: Genetic variants of a locus within the chromosome 9p21.3 region are consistently associated with coronary artery disease and coronary artery calcification (CAC). The aim of this study was to examine whether a 9p21.3 common variant interacts with socioeconomic status (SES) to influence CAC and incident coronary events in a population-based cohort. METHODS AND RESULTS: 9p21.3 single nucleotide polymorphism rs2891168 was genotyped in 4116 participants of the Heinz Nixdorf Recall study...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28362709/a-diagnostic-algorithm-combining-immunohistochemistry-and-molecular-cytogenetics-to-diagnose-challenging-melanocytic-tumors
#16
Sylvia Redon, Briac Guibourg, Matthieu Talagas, Pascale Marcorelles, Arnaud Uguen
Some melanocytic tumors are diagnostic challenges and require ancillary tools in helping the pathologists to determine their potential of malignancy. We intend to propose a diagnostic algorithm in helping to classify challenging melanocytic tumors combining histology, immunohistochemistry, and cytogenetics. We report on 24 spitzoid and/or misdiagnosed melanocytic tumors studied with a triple p16, Ki-67, and HMB45 immunohistochemistry score, fluorescent in situ hybridization (FISH) with melanoma-dedicated and non-melanoma-dedicated probes and comparative genomic hybridization on DNA microarray (CGH array)...
March 30, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28287809/increased-risk-of-chd-in-the-presence-of-rs7865618-a-allele-tehran-lipid-and-glucose-study
#17
Samaneh Matoo, Mohammad Sadegh Fallah, Maryam Sadat Daneshpour, Reyhaneh Mousavi, Bahareh Sedaghati Khayat, Mandana Hasanzad, Fereidoun Azizi
BACKGROUND: Recent genome-wide association studies (GWAS) in European populations have indicated that the rs12526453 polymorphism located in phosphatase and actin regulator 1 gene (PHACTR1), mapping to chromosome 6p24 and rs7865618 polymorphism in the cyclin-dependent kinase inhibitor B antisense RNA 1 gene (CDKN2B-AS1) on 9p21.3 are associated with coronary heart disease (CHD). This study was carried out to investigate the association of these polymorphisms and CHD in an Iranian population...
March 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28282560/genome-wide-meta-analysis-identifies-novel-loci-of-plaque-burden-in-carotid-artery
#18
Janne Pott, Ralph Burkhardt, Frank Beutner, Katrin Horn, Andrej Teren, Holger Kirsten, Lesca M Holdt, Gerhard Schuler, Daniel Teupser, Markus Loeffler, Joachim Thiery, Markus Scholz
BACKGROUND AND AIMS: Carotid artery plaque is an established marker of subclinical atherosclerosis and common patho-mechanisms with coronary artery disease (CAD) are hypothesized. We aimed to identify genetic variants associated with carotid plaque and to examine the potential shared genetic basis with CAD. METHODS: After investigating the reliability of plaque detection, we performed a genome-wide meta-association study in two independent cohorts (LIFE-Adult, n = 4037 and LIFE-Heart, n = 3152) for carotid plaque score (PS), defined as the sum of the plaque load of common carotid artery and carotid bulb...
April 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28276595/a-genetic-variant-in-cdkn2a-b-gene-is-associated-with-the-increased-risk-of-breast-cancer
#19
Soodabeh ShahidSales, Mehraneh Mehramiz, Faezeh Ghasemi, Amir Aledavood, Mehri Shamsi, Seyed Mahdi Hassanian, Majid Ghayour-Mobarhan, Amir Avan
BACKGROUND: Breast cancer is among the leading cause of cancer-related-deaths in women, supporting the need for the identification of novel prognostic and predictive biomarkers. Recent studies have identified common genetic variants in a region on chromosome 9p21 associated with an increased risk of developing different cancers. Here, we explored the association of a genetic variant in CDKN2A/B, rs10811661, for the first time in 564 subjects with/without breast cancer. METHOD: Genotyping was performed using TaqMan real time PCR method...
March 9, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28265829/a-multicenter-study-of-a-fluorescence-in-situ-hybridization-probe-set-for-diagnosing-high-grade-dysplasia-and-adenocarcinoma-in-barrett-s-esophagus
#20
MULTICENTER STUDY
John M Poneros, Adam S Faye, Emily G Barr Fritcher, Ananda Sen, Sharmila Anandasabapathy, Robert S Bresalier, Norman Marcon, D Kim Turgeon, Henry Appelman, Daniel Normolle, Larry E Morrison, Dean E Brenner, Kevin C Halling
BACKGROUND AND AIMS: Preliminary single-institution data suggest that fluorescence in situ hybridization (FISH) may be useful for detecting high-grade dysplasia (HGD) and esophageal adenocarcinoma (EA) in patients with Barrett's esophagus (BE). This multicenter study aims to validate the measurement of polysomy (gain of at least two loci) by FISH as a way to discriminate degrees of dysplasia in BE specimens. METHODS: Tissue specimens were collected from four different hospitals and read by both the local pathology department ("Site diagnosis") and a single central pathologist ("Review diagnosis") at a separate institution...
May 2017: Digestive Diseases and Sciences
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