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Genes, Chromosomes & Cancer

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https://www.readbyqxmd.com/read/28639428/relationship-between-pancreatic-intraepithelial-neoplasias-pancreatic-ductal-adenocarcinomas-and-single-nucleotide-polymorphisms-in-autopsied-elderly-patients
#1
Yoko Matsuda, Masashi Tanaka, Motoji Sawabe, Seijiro Mori, Masaaki Muramatsu, Makiko Naka Mieno, Toru Furukawa, Tomio Arai
A growing body of evidence shows that the presence of single nucleotide polymorphisms (SNPs) influences individual predisposition to pancreatic cancer. In the present study, we comparatively analyzed serially autopsied, elderly Japanese patients (n = 2,205) with pancreatic intraepithelial neoplasias (PanINs) and pancreatic ductal adenocarcinomas (PDACs) on the basis of their pancreatic lesions, clinical information, and SNPs. The incidence of PanIN-1, -2, -3, and PDACs in these patients was 55%, 12%, 1.4%, and 2...
June 22, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28639284/soft-tissue-angiofibroma-clinicopathologic-immunohistochemical-and-molecular-analysis-of-14-cases
#2
Elise M Bekers, Patricia Jta Groenen, Marian Aj Verdijk, Winny L Raaijmakers-van Geloof, Paul Roepman, Robert Vink, Nathalie D B Gilhuijs, Joost M van Gorp, Judith Vmg Bovée, David H Creytens, Adrienne M Flanagan, Albert Jh Suurmeijer, Thomas Mentzel, Elsa Arbajian, Uta Flucke
Soft tissue angiofibroma is rare and has characteristic histomorphological and genetic features. For diagnostic purposes, there are no specific antibodies available. Fourteen lesions (6 females, 8 males; age range 7 - 67 years) of the lower extremities (12) and trunk (2) were investigated by immunohistochemistry, including for the first time NCOA2. NCOA2 was also tested in a control group of other spindle cell lesions. The known fusion-genes (AHRR-NCOA2 and GTF2I-NCOA2) were examined using RT-PCR in order to evaluate their diagnostic value...
June 22, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28639280/mutational-profiles-of-brenner-tumors-show-distinctive-features-uncoupling-urothelial-carcinomas-and-ovarian-carcinoma-with-transitional-cell-histology
#3
Nicole Pfarr, Silvia Darb-Esfahani, Jonas Leichsenring, Eliane Taube, Melanie Boxberg, Ioana Braicu, Moritz Jesinghaus, Roland Penzel, Volker Endris, Aurelia Noske, Wilko Weichert, Peter Schirmacher, Carsten Denkert, Albrecht Stenzinger
Brenner tumors (BT) are rare ovarian tumors encompassing benign, borderline and malignant variants. While the histopathology of BTs and their clinical course is well described, little is known about the underlying genetic defects. We employed targeted next generation sequencing to analyze the mutational landscape in a cohort of 23 BT cases (17 benign, 2 borderline, 4 malignant) and 3 ovarian carcinomas with transitional cell histology (TCC). Copy number variations (CNV) were validated by fluorescence in-situ hybridization (FISH) and quantitative PCR-based copy number assays...
June 22, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28597942/copy-number-alterations-determined-by-single-nucleotide-polymorphism-array-testing-in-the-clinical-laboratory-are-indicative-of-gene-fusions-in-pediatric-cancer-patients
#4
Tracy M Busse, Jacquelyn J Roth, Donna Wilmoth, Luanne Wainwright, Laura Tooke, Jaclyn A Biegel
Gene fusions resulting from structural rearrangements are an established mechanism of tumorigenesis in pediatric cancer. In this clinical cohort, 1,350 single nucleotide polymorphism (SNP)-based chromosomal microarrays from 1,211 pediatric cancer patients were evaluated for copy number alterations (CNAs) associated with gene fusions. Karyotype or fluorescence in situ hybridization studies were performed in 42% of the patients. Ten percent of the bone marrow or solid tumor specimens had SNP array-associated CNAs suggestive of a gene fusion...
June 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28593741/comparison-of-different-methods-for-telomere-length-measurement-in-whole-blood-and-blood-cell-subsets-recommendations-for-telomere-length-measurement-in-hematological-diseases
#5
Yvonne Lisa Behrens, Kathrin Thomay, Maike Hagedorn, Juliane Ebersold, Lea Henrich, Rainer Nustede, Brigitte Schlegelberger, Gudrun Göhring
Different methods of telomere length measurement are used to identify patients with telomeropathies. In our lab, we established four different methods for telomere length measurement, terminal restriction fragment (TRF) analysis by Southern blot analysis, quantitative PCR (qPCR), quantitative telomere/centromere fluorescence in situ hybridization (T/C-FISH) and fluorescence in situ hybridization combined with flow cytometry (FlowFISH). The methods each have distinct properties and apart from this - according to our experience and data - may have an impact on the individual result...
June 8, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28569045/a-novel-ews-creb3l3-gene-fusion-in-a-mesenteric-sclerosing-epithelioid-fibrosarcoma
#6
Barbara Dewaele, Louis Libbrecht, Gabriel Levy, Benedicte Brichard, Vanessa Vanspauwen, Raf Sciot, Maria Debiec-Rychter
Sclerosing epithelioid fibrosarcoma (SEF) is a rare, malignant fibroblastic neoplasm, morphologically composed of cords, nests or sheets of monotonous epithelioid cells within a collagenous matrix. It has been recently characterized by recurrent pathogenic EWS-CREB3L1/2 or FUS-CREB3L2 fusions and common MUC4 protein expression by immunohistochemistry. Typically SEF occur in middle-aged adults and rarely have been reported within the abdominal cavity. Here we report an 18-year-old man with intraabdominal tumour and multiple disseminated liver metastases, presenting pure SEF histologic and immunophenotypic features...
May 31, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28560743/occurrence-of-bap1-germline-mutations-in-cutaneous-melanocytic-tumors-with-loss-of-bap1-expression-a-pilot-study
#7
Odile Cabaret, Emilie Perron, Brigitte Bressac-de Paillerets, Nadem Soufir, Arnaud de la Fouchardière
Melanocytic BAP1-associated intradermal tumors (MBAITs) can either be sporadic or associated with a cancer-predisposition syndrome. In this study we explored the clinical status of 136 patients in which at least one MBAIT was found. 49/136 (36%) of them gave their signed consent for an oncogenetic BAP1 blood test. 28/136 patients (20%) diagnosed with an MBAIT had other MBAITs and/or a personal or familial history of BAP1-related cancers that could clinically designate them as potential carriers of a BAP1 germline mutation...
May 30, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28545165/highly-recurrent-h3f3a-mutations-with-additional-epigenetic-regulator-alterations-in-giant-cell-tumor-of-bone
#8
Koichi Ogura, Fumie Hosoda, Hiromi Nakamura, Natsuko Hama, Yasushi Totoki, Akihiko Yoshida, Shoko Ohashi, Hirofumi Rokutan, Erina Takai, Shinichi Yachida, Akira Kawai, Sakae Tanaka, Tatsuhiro Shibata
Recurrent H3F3A and IDH2 mutations have been reported in giant cell tumor of bone (GCTB). However, the reported incidences have varied, and other molecular genetic alterations have not been identified due to the small number of cases analyzed with comprehensive methods. Moreover, the relative sensitivities of Sanger sequencing and next-generation sequencing (NGS) for the detection of H3F3A mutations in DNA extracted from archival formalin-fixed paraffin-embedded (FFPE) for clinical diagnosis have not been assessed...
May 25, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28512763/impact-of-mlh1-expression-on-tumour-evolution-after-curative-surgical-tumour-resection-in-a-murine-orthotopic-xenograft-model-for-human-msi-colon-cancer
#9
Katy Meunier, Marianne Ferron, Claire Calmel, Jean-François Fléjou, Marc Pocard, Françoise Praz
Colorectal cancers (CRCs) displaying microsatellite instability (MSI) most often result from MLH1 deficiency. The aim of this study was to assess the impact of MLH1 expression per se on tumour evolution after curative surgical resection using a xenograft tumour model. Transplantable tumours established with the human MLH1-deficient HCT116 cell line and its MLH1-complemented isogenic clone, mlh1-3, were implanted onto the caecum of NOD/SCID mice. Curative surgical resection was performed at day 10 in half of the animals...
May 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28510357/kif11-silencing-and-inhibition-induces-chromosome-instability-that-may-contribute-to-cancer
#10
Yasamin Asbaghi, Laura L Thompson, Zelda Lichtensztejn, Kirk J McManus
Understanding the aberrant pathways that contribute to oncogenesis and identifying the altered genes involved in these pathways is a critical first step to develop effective strategies to better combat cancer. Chromosome instability (CIN) is an aberrant phenotype that occurs in ∼80% of all cancer types and is associated with aggressive tumors, the acquisition of multidrug resistance and poor patient prognosis. Despite these associations however, the aberrant genes and molecular defects underlying CIN remain poorly understood...
May 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28510278/tfg-met-fusion-in-an-infantile-spindle-cell-sarcoma-with-neural-features
#11
Uta Flucke, Max M van Noesel, Marc Wijnen, Lei Zhang, Chun-Liang Chen, Yun-Shao Sung, Cristina R Antonescu
An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression...
May 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28437838/prognostic-relevance-of-mir-124-3p-and-its-target-tp53inp1-in-pediatric-ependymoma
#12
Yulia Margolin-Miller, Natalia Yanichkin, Keren Shichrur, Helen Toledano, Anat Ohali, Theophilos Tzaridis, Shalom Michowitz, Suzana Fichman-Horn, Meora Feinmesser, Stefan M Pfister, Hendrik Witt, Uri Tabori, Eric Bouffet, Vijay Ramaswamy, Cynthia Hawkins, Michael D Taylor, Isaac Yaniv, Smadar Avigad
Ependymoma is a malignant pediatric brain tumor, often incurable under the current treatment regimen. We aimed to evaluate the expression of microRNAs (miRs) in pediatric ependymoma tumors in an attempt to identify prognostic molecular markers which would lead to potential therapeutic targets. Following miR-array expression analysis, we focused on 9 miRs that correlated with relapse which were further validated by quantitative real-time PCR (qRT-PCR) in a cohort of 67 patients. Western blotting and immunohistochemistry were used to measure target protein expression in 20 and 34 tumor samples, respectively...
April 24, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28420034/a-fluorescence-in-situ-hybridization-based-screen-allows-rapid-detection-of-adverse-cytogenetic-alterations-in-patients-with-acute-myeloid-leukemia
#13
Nadine Sandhöfer, Klaus H Metzeler, Purvi M Kakadia, Zlatana Pasalic, Wolfgang Hiddemann, Michaela Neusser, Ortrud Steinlein, Michael Fiegl, Marion Subklewe, Karsten Spiekermann, Stefan K Bohlander, Stephanie Schneider, Jan Braess
In adult acute myeloid leukemia (AML), the karyotype of the leukemic cell is among the strongest prognostic factors. The Medical Research Council (MRC) and the European LeukemiaNet (ELN) classifications distinguish between favorable, intermediate and adverse cytogenetic risk patients who differ in their treatment response and overall survival. Conventional cytogenetic analyses are a mandatory component of AML diagnostics but they are time-consuming; therefore, therapeutic decisions in elderly patients are often delayed...
April 18, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28398700/differential-requirements-for-dna-repair-proteins-in-immortalized-cell-lines-using-alternative-lengthening-of-telomere-mechanisms
#14
Alaina R Martinez, Zeenia Kaul, Jeffrey D Parvin, Joanna Groden
Cancer cells require telomere maintenance to enable uncontrolled growth. Most often telomerase is activated, although a subset of human cancers are telomerase-negative and depend on recombination-based mechanisms known as ALT (Alternative Lengthening of Telomeres). ALT depends on proteins that are essential for homologous recombination, including BLM and the MRN complex, to extend telomeres. This study surveyed the requirement for requisite homologous recombination proteins, yet to be studied in human ALT cell lines, by protein depletion using RNA interference...
April 11, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28395118/etv6-runx1-like-acute-lymphoblastic-leukemia-a-novel-b-cell-precursor-leukemia-subtype-associated-with-the-cd27-cd44-immunophenotype
#15
Marketa Zaliova, Michaela Kotrova, Silvia Bresolin, Jan Stuchly, Jan Stary, Ondrej Hrusak, Geertruy Te Kronnie, Jan Trka, Jan Zuna, Martina Vaskova
We have shown previously that ETV6/RUNX1-positive acute lymphoblastic leukemia (ALL) is distinguishable from other ALL subtypes by CD27(pos) /CD44(low-neg) immunophenotype. During diagnostic immunophenotyping of 573 childhood B-cell precursor ALL (BCP-ALL), we identified eight cases with this immunophenotype among "B-other ALL" (BCP-ALL cases negative for routinely tested chromosomal/genetic aberrations). We aimed to elucidate whether these cases belong to the recently described ETV6/RUNX1-like ALL defined by the ETV6/RUNX1-specific gene expression profile (GEP), harboring concurrent ETV6 and IKZF1 lesions...
April 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28393427/hnrnpm-and-cd44s-expression-affects-tumor-aggressiveness-and-predicts-poor-prognosis-in-breast-cancer-with-axillary-lymph-node-metastases
#16
Huizhi Sun, Tieju Liu, Dongwang Zhu, Xueyi Dong, Fang Liu, Xiaohui Liang, Chen Chen, Bing Shao, Meili Wang, Yi Wang
HnRNPM is an essential splicing factor and its expression is closely correlated with invasion and metastasis of tumor cells. The CD44 cell adhesion molecule is aberrantly expressed in many breast tumors and CD44 splice variants have been implicated in specific oncogenic signaling pathways. To investigate the clinical significance and biological function of hnRNPM, immunohistochemistry, quantitative, and semiquantitative polymerase chain reaction, lentiviral transfection system and transwell invasion assays were performed...
April 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28466543/mutation-patterns-in-genes-encoding-interferon-signaling-and-antigen-presentation-a-pan-cancer-survey-with-implications-for-the-use-of-immune-checkpoint-inhibitors
#17
Jan Budczies, Michael Bockmayr, Frederick Klauschen, Volker Endris, Stefan Fröhling, Peter Schirmacher, Carsten Denkert, Albrecht Stenzinger
Blockade of immune checkpoints has become a powerful tool in cancer medicine, which is effective across various solid cancer types and hematologic malignancies. While immunohistochemical detection of PD-L1 expression in tumor cells, immune cells, or both has been introduced as predictive biomarker in several clinical trials, shortcomings and limitations of this approach were quickly recognized. As a single biomarker is unlikely to adequately reflect the complex interplay between immune cells and cancer, various genetic determinants of therapy success, including microsatellite instability, mutational burden, and PD-L1 amplification, are being investigated...
August 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28383167/hspa8-as-a-novel-fusion-partner-of-nr4a3-in-extraskeletal-myxoid-chondrosarcoma
#18
Milena Urbini, Annalisa Astolfi, Maria Abbondanza Pantaleo, Salvatore Serravalle, Angelo Paolo Dei Tos, Piero Picci, Valentina Indio, Marta Sbaraglia, Stefania Benini, Alberto Righi, Marco Gambarotti, Alessandro Gronchi, Chiara Colombo, Gian Paolo Dagrada, Silvana Pilotti, Roberta Maestro, Maurizio Polano, Maristella Saponara, Giuseppe Tarantino, Andrea Pession, Guido Biasco, Paolo Giovanni Casali, Silvia Stacchiotti
Extraskeletal myxoid chondrosarcoma (EMC) is a very rare sarcoma most often arising in the soft tissue. Rare EMC of the bone have been reported. EMC exhibits distinctive clinico-pathological and genetic features; however, despite the name, it lacks any feature of cartilaginous differentiation. EMC is characterized by the rearrangement of the NR4A3, which, in most cases (about 62-75%), is fused with EWSR1 and less frequently with other partners, including TAF15 (27%), TCF12 (4%), TFG, and FUS. We herein report the identification by whole-transcriptome sequencing of HSPA8 as a novel fusion partner of NR4A3 in a case of EMC...
July 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28379620/genome-wide-copy-number-variation-pattern-analysis-and-a-classification-signature-for-non-small-cell-lung-cancer
#19
Zhe-Wei Qiu, Jia-Hao Bi, Adi F Gazdar, Kai Song
The accurate classification of non-small cell lung carcinoma (NSCLC) into lung adenocarcinoma (LUAD) and lung squamous cell carcinoma (LUSC) is essential for both clinical practice and lung cancer research. Although the standard WHO diagnosis of NSCLC on biopsy material is rapid and economic, more than 13% of NSCLC tumors in the USA are not further classified. The purpose of this study was to analyze the genome-wide pattern differences in copy number variations (CNVs) and to develop a CNV signature as an adjunct test for the routine histopathologic classification of NSCLCs...
July 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28378892/distinct-prognostic-roles-and-heterogeneity-of-ttf1-copy-number-and-ttf1-protein-expression-in-non-small-cell-lung-cancer
#20
Katsuhiro Yoshimura, Yusuke Inoue, Kazutaka Mori, Yuji Iwashita, Tomoaki Kahyo, Akikazu Kawase, Masayuki Tanahashi, Hiroshi Ogawa, Naoki Inui, Kazuhito Funai, Kazuya Shinmura, Hiroshi Niwa, Takafumi Suda, Haruhiko Sugimura
Thyroid transcription factor 1 (TTF1) located on chromosome band 14q13.3 is an oncogene and a suppressor gene in non-small cell lung cancer (NSCLC). The prognostic relevance of TTF1 copy number alterations (CNAs) and their association with TTF1 protein expression are poorly understood. Here, we assessed TTF1 CNAs and protein expression using microarrays in a cohort of 636 NSCLC, including 423 adenocarcinoma (ADC) and 171 squamous cell carcinoma (SCC). In addition, fluorescent in situ hybridization and immunohistochemistry were performed...
July 2017: Genes, Chromosomes & Cancer
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