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https://www.readbyqxmd.com/read/28900470/mutational-frequency-of-kras-nras-idh2-pik3ca-and-egfr-in-north-indian-gallbladder-cancer-patients
#1
Aarti Sharma, Ashok Kumar, Niraj Kumari, Narendra Krishnani, Neeraj Rastogi
BACKGROUND: Gallbladder cancer (GBC) has a peculiar geographical distinction, with a high prevalence seen in North India and Chile. There are various aetiopathogenetic mechanisms of GBC causation; one of them is a series of pathogenic mutations, which is responsible for the malignant transformation of gallbladder epithelium. Therefore, the present study aimed to find out cancer-specific hot spot mutations in five major cancer-related genes KRAS exon1 &2, NRAS exon1, IDH2 exon, PIK3CA exon 20, IDH2 exon 4 and EGFR exon 20 in North Indian GBC patients and their association with clinicopathological variables...
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28838400/emergence-of-fgfr3-tacc3-fusions-as-a-potential-by-pass-resistance-mechanism-to-egfr-tyrosine-kinase-inhibitors-in-egfr-mutated-nsclc-patients
#2
Sai-Hong Ignatius Ou, Leora Horn, Marcelo Cruz, Davood Vafai, Christine M Lovly, Allison Spradlin, Michael J Williamson, Ibiayi Dagogo-Jack, Adrienne Johnson, Vincent A Miller, Shirish Gadgeel, Siraj M Ali, Alexa B Schrock
Resistance to EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancers (NSCLCs) with activating EGFR mutations generally involve development of acquired secondary or tertiary EGFR mutations, such as T790M or C797S. However, case reports have demonstrated that actionable receptor tyrosine kinase fusions such as EML4-ALK, CCDC6-RET, and FGFR3-TACC3 can potentially confer resistance to EGFR TKIs. We seeked to identify the prevalence of FGFR3-TACC3 fusion transcripts as resistance mechanism to EGFR TKIs...
September 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28783138/flow-cytometric-sorting-coupled-with-exon-capture-sequencing-identifies-somatic-mutations-in-archival-lymphoma-tissues
#3
Nenggang Jiang, Christopher Chen, Qiang Gong, Kristen Shields, Yuping Li, YuanYuan Chen, Joo Song, Timothy W McKeithan, Wing C Chan
The enormous number of archived formalin-fixed paraffin-embedded (FFPE) tissues available are a valuable resource of material for research. However, the use of such tissues poses many challenges, among which is the difficulty of isolating different cell populations within the tissue. In this study, we used tissue from two types of non-Hodgkin lymphoma as a model to demonstrate a method we have established and optimized to separate FFPE samples into distinct tumor and nonmalignant populations. Using FFPE reactive tonsil sections, various approaches for antigen retrieval and labeling, and the effectiveness of flow cytometric sorting were tested...
August 7, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28705719/prevalence-of-ebv-hpv-and-mmtv-in-pakistani-breast-cancer-patients-a-possible-etiological-role-of-viruses-in-breast-cancer
#4
Wasifa Naushad, Orooj Surriya, Hajra Sadia
BACKGROUND: Breast cancer being a multifactorial disease, the role of infectious agent in development of disease is of great interest. The high incidence of breast cancer around the world has woken the interest in a viral etiology of breast cancer. Despite decades of research, no etiologic factor(s) for human breast cancer has been known and the quest for a contributing cause has all but been abandoned during the past years. Recent investigations have linked breast cancer to viral infections, such as Epstein-Barr virus (EBV), Human papillomavirus (HPV) and mouse mammary tumor virus...
July 10, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28588314/frequency-of-gnas-r201h-substitution-mutation-in-polyostotic-fibrous-dysplasia-pyrosequencing-analysis-in-tissue-samples-with-or-without-decalcification
#5
Su-Jin Shin, Seok Joo Lee, Sang Kyum Kim
Guanine nucleotide-binding protein/α-subunit (GNAS) mutations are involved in fibrous dysplasia (FD) pathogenesis. Here, we analyzed GNAS mutations in FD which were performed by pyrosequencing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue. The mutation detection rate was determined in FD specimens with and without decalcification. GNAS mutation was identified in 28 cases out of 87 FDs (32.18%) [p.R201C (N = 14) and p.R201H (N = 14)]. GNAS mutation was more likely to occur in polyostotic FD (7/28, 25...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28432562/increased-expression-of-the-microrna-106b-25-cluster-and-its-host-gene-mcm7-in-corticotroph-pituitary-adenomas-is-associated-with-tumor-invasion-and-crooke-s-cell-morphology
#6
Filip Garbicz, Dawid Mehlich, Beata Rak, Emir Sajjad, Maria Maksymowicz, Wiktor Paskal, Grzegorz Zieliński, Paweł K Włodarski
PURPOSE: MCM7 (minichromosome maintenance complex component 7), a DNA replication licensing factor, is a host gene for the oncogenic miR-106b~25 cluster. It has been recently revealed as a relevant prognostic biomarker in a variety of cancers, including pituitary adenomas. The purpose of this study was to assess whether miR-106b~25 and MCM7 levels correlate with tumor invasiveness in a cohort of ACTH-immunopositive adenomas. METHODS: Tissue samples were obtained intraoperatively from 25 patients with pituitary adenoma...
August 2017: Pituitary
https://www.readbyqxmd.com/read/28351563/sensitivity-of-tumor-surface-brushings-to-detect-human-papilloma-virus-dna-in-head-and-neck-cancer
#7
Barbara Kofler, Wegene Borena, Claudia Manzl, Jozsef Dudas, Anne-Sophie Wegscheider, Pidder Jansen-Dürr, Volker Schartinger, Herbert Riechelmann
OBJECTIVE: Human papilloma virus (HPV) induced head and neck squamous cell carcinoma (HNSCC) represents a distinct tumor subset. We questioned how accurately a brushing from the tumor surface detects HPV in patients with HNSCC. MATERIALS AND METHODS: Brushings from the tumor surface were compared with HPV DNA isolation from formalin-fixed and paraffin-embedded (FFPE) tumor biopsies, which served as the reference standard. In both matrices, HPV DNA was detected using a commercially available test kit...
April 2017: Oral Oncology
https://www.readbyqxmd.com/read/28346123/panfungal-polymerase-chain-reaction-for-identification-of-fungal-pathogens-in-formalin-fixed-animal-tissues
#8
Courtney Meason-Smith, Erin E Edwards, Caitlin E Older, Mackenzie Branco, Laura K Bryan, Sara D Lawhon, Jan S Suchodolski, Gabriel Gomez, Joanne Mansell, Aline Rodrigues Hoffmann
Identification of fungal organisms often poses a problem for pathologists because the histomorphology of some fungal organisms is not specific, fresh tissues may not be available, and isolation and identification in culture may take a long time. The purpose of this study was to validate the use of panfungal polymerase chain reaction (PCR) to identify fungal organisms from formalin-fixed paraffin-embedded (FFPE) tissues. Formalin-fixed paraffin-embedded curls were tested from 128 blocks containing canine, feline, equine, and bovine tissues with cutaneous, nasal, pulmonary, and systemic fungal infections, identified by the presence of fungi in histologic sections...
July 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28323122/exome-analysis-of-the-evolutionary-path-of-hepatocellular-adenoma-carcinoma-transition-vascular-invasion-and-brain-dissemination
#9
Sílvia Vilarinho, E Zeynep Erson-Omay, Kisha Mitchell-Richards, Charles Cha, Carol Nelson-Williams, Akdes Serin Harmancı, Katsuhito Yasuno, Murat Günel, Tamar H Taddei
Hepatocellular adenoma (HCA) is a rare benign liver tumor, predominantly seen in young women. Its major complications are malignant transformation, spontaneous hemorrhage, and rupture. We describe a case of a young female with no underlying liver disease who presented with acute abdominal pain and was found to have a 17cm heterogeneous mass in the left lobe of the liver. She underwent left hepatectomy and pathology revealed a 14cm moderately differentiated hepatocellular carcinoma (HCC) arising in a shell of a HCA...
July 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28314930/non-reproducible-sequence-artifacts-in-ffpe-tissue-an-experience-report
#10
Richard Ofner, Cathrin Ritter, Selma Ugurel, Lorenzo Cerroni, Mathias Stiller, Thomas Bogenrieder, Flavio Solca, David Schrama, Jürgen C Becker
BACKGROUND: Recent advances in sequencing technologies supported the development of molecularly targeted therapy in cancer patients. Thus, genomic analyses are becoming a routine part in clinical practice and accurate detection of actionable mutations is essential to assist diagnosis and therapy choice. However, this is often challenging due to major problems associated with DNA from formalin-fixed paraffin-embedded tissue which is usually the primary source for genetic testing. OBJECTIVES: Here we want to share our experience regarding major problems associated with FFPE DNA used for PCR-based sequencing as illustrated by the mutational analysis of ERBB4 in melanoma...
July 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28146572/a-melanoma-lymph-node-metastasis-with-a-donor-patient-hybrid-genome-following-bone-marrow-transplantation-a-second-case-of-leucocyte-tumor-cell-hybridization-in-cancer-metastasis
#11
Greggory S LaBerge, Eric Duvall, Zachary Grasmick, Kay Haedicke, John Pawelek
BACKGROUND: Metastatic disease is the principal cause of mortality in cancer, yet the underlying mechanisms are not fully understood. Macrophage-cancer cell fusion as a cause of metastasis was proposed more than a century ago by German pathologist Prof. Otto Aichel. Since then this theory has been confirmed in numerous animal studies and recently in a patient with metastatic melanoma. METHODS: Here we analyzed tumor DNA from a 51-year-old man who, 8 years following an allogeneic BMT from his brother for treatment of chronic myelogenous leukemia (CML), developed a nodular malignant melanoma on the upper back with spread to an axillary sentinal lymph node...
2017: PloS One
https://www.readbyqxmd.com/read/28116522/molecular-characterization-of-cd44-cd24-ck-cd45-cells-in-benign-and-malignant-breast-lesions
#12
Arnaud Da Cruz Paula, Catarina Leitão, Oriana Marques, Ana Margarida Rosa, Ana Helena Santos, Alexandra Rêma, Maria de Fátima Faria, Ana Rocha, José Luís Costa, Margarida Lima, Carlos Lopes
Breast cancer epithelial cells with the CD44(+)/CD24(-/low) phenotype possess tumor-initiating cells and epithelial-mesenchymal transition (EMT) capacity. Massive parallel sequencing can be an interesting approach to deepen the molecular characterization of these cells. We characterized CD44(+)/CD24(-)/cytokeratin(Ck)(+)/CD45(-) cells isolated through flow cytometry from 43 biopsy and 6 mastectomy samples harboring different benign and malignant breast lesions. The Ion Torrent Ampliseq Cancer Hotspot panel v2 (CHPv2) was used for the identification of somatic mutations in the DNA extracted from isolated CD44(+)/CD24(-)/Ck(+)/CD45(-) cells...
March 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28073359/whole-transcriptome-analysis-of-pre-invasive-and-invasive-early-squamous-lung-carcinoma-in-archival-laser-microdissected-samples
#13
Andre Koper, Leo A H Zeef, Leena Joseph, Keith Kerr, John Gosney, Mark A Lindsay, Richard Booton
BACKGROUND: Preinvasive squamous cell cancer (PSCC) are local transformations of bronchial epithelia that are frequently observed in current or former smokers. Their different grades and sizes suggest a continuum of dysplastic change with increasing severity, which may culminate in invasive squamous cell carcinoma (ISCC). As a consequence of the difficulty in isolating cancerous cells from biopsies, the molecular pathology that underlies their histological variability remains largely unknown...
January 10, 2017: Respiratory Research
https://www.readbyqxmd.com/read/27869447/-testing-of-mutations-in-brca1-and-brca2-genes-in-tumor-tissues-possibilities-and-limitations
#14
Hana Vošmiková, Aleš Ryška, Kateřina Sieglová, Jan Laco
Development of targeted cancer therapy is accompanied by a search for markers allowing prediction of response to the particular treatment. Recently, the interest is focused, among other neoplasms, also on the therapy of ovarian cancer using new inhibitors of poly (ADP-ribose) polymerase (PARP) proteins, nuclear enzymes involved in the repair of single-stranded DNA breaks. The greatest benefit from the administration of PARP inhibitors have patients with a deleterious or potentially deleterious germ-line or somatic mutation of BRCA1 or BRCA2, two genes responsible for repair of double stranded DNA breaks...
2016: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/27630381/the-effect-of-deoxyribonucleic-acid-extraction-methods-from-lymphoid-tissue-on-the-purity-content-and-amplifying-ability
#15
Hossein Ayatollahi, Mohammad Hadi Sadeghian, Mohammad Reza Keramati, Ali Ayatollahi, Arezoo Shajiei, Maryam Sheikhi, Samane Bakhshi
BACKGROUND: Nowadays, definitive diagnosis of numerous diseases is based on the genetic and molecular findings. Therefore, preparation of fundamental materials for these evaluations is necessary. Deoxyribonucleic acid (DNA) is the first material for the molecular pathology and genetic analysis, and better results need more pure DNA. Furthermore, higher concentration of achieved DNA causes better results and higher amplifying ability for subsequent steps. We aim to evaluate five DNA extraction methods to compare DNA intimacy including purity, concentration, and amplifying ability with each other...
July 2016: Nigerian Medical Journal: Journal of the Nigeria Medical Association
https://www.readbyqxmd.com/read/27606136/kras-mutation-in-small-cell-lung-carcinoma-and-extrapulmonary-small-cell-cancer
#16
Hilmi Kodaz, Ebru Taştekin, Bülent Erdoğan, İlhan Hacıbekiroğlu, Hilmi Tozkır, Hakan Gürkan, Esma Türkmen, Bora Demirkan, Sernaz Uzunoğlu, İrfan Çiçin
BACKGROUND: Lung cancer is one of the most lethal cancers. It is mainly classified into 2 groups: non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). Extrapulmonary small cell carcinomas (EPSCC) are very rare. The Ras oncogene controls most of the cellular functions in the cell. Overall, 21.6% of human cancers contain a Kirsten Ras (KRAS) mutation. SCLC and EPSCC have several similar features but their clinical course is different. AIMS: We investigated the KRAS mutation status in SCLC and EPSCC...
July 2016: Balkan Medical Journal
https://www.readbyqxmd.com/read/27529629/cpg-methylation-analysis-of-hpv16-in-laser-capture-microdissected-archival-tissue-and-whole-tissue-sections-from-high-grade-anal-squamous-intraepithelial-lesions-a-potential-disease-biomarker
#17
Monica Molano, Sepehr N Tabrizi, Suzanne M Garland, Jennifer M Roberts, Dorothy A Machalek, Samuel Phillips, David Chandler, Richard J Hillman, Andrew E Grulich, Fengyi Jin, I Mary Poynten, David J Templeton, Alyssa M Cornall
Incidence and mortality rates of anal cancer are increasing globally. More than 90% of anal squamous cell carcinomas (ASCC) are associated with human papillomavirus (HPV). Studies on HPV-related anogenital lesions have shown that patterns of methylation of viral and cellular DNA targets could potentially be developed as disease biomarkers. Lesion-specific DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissues from existing or prospective patient cohorts may constitute a valuable resource for methylation analysis...
2016: PloS One
https://www.readbyqxmd.com/read/27456982/hpv16-detection-by-qpcr-method-in-relation-to-quantity-and-quality-of-dna-extracted-from-archival-formalin-fixed-and-paraffin-embedded-head-and-neck-cancer-tissues-by-three-commercially-available-kits
#18
Beata Biesaga, Anna Janecka, Anna Mucha-Małecka, Agnieszka Adamczyk, Sława Szostek, Dorota Słonina, Krzysztof Halaszka, Marcin Przewoźnik
The aim of the present study was to compare HPV16 detection by quantitative polymerase chain reaction (qPCR) in relation to the quantity and quality of DNA isolated from 21 formalin fixed and paraffin embedded (FFPE) head and neck cancer tissues by three commercially available kits: EX-WAX™ DNA Extraction Kit (M) (Merck Millipore, Darmstadt, Germany), QIAamp(®) DNA FFPE Tissue (Q) (Qiagen, Hilden, Germany) and ReliaPrep™ FFPE gDNA Miniprep System (P) (Promega, Madison, USA). Quantity of extracted DNA was assessed spectrophometrically and fluorometrically...
October 2016: Journal of Virological Methods
https://www.readbyqxmd.com/read/27433284/genome-scale-methylation-assessment-did-not-identify-prognostic-biomarkers-in-oral-tongue-carcinomas
#19
Annette M Lim, Nicholas C Wong, Ruth Pidsley, Elena Zotenko, June Corry, Alexander Dobrovic, Susan J Clark, Danny Rischin, Benjamin Solomon
BACKGROUND: DNA methylation profiling of heterogeneous head and neck squamous cell carcinoma (HNSCC) cohorts has been reported to predict patient outcome. We investigated if a prognostic DNA methylation profile could be found in tumour tissue from a single uniform subsite, the oral tongue. The methylation status of 109 comprehensively annotated oral tongue squamous cell carcinoma (OTSCC) formalin-fixed paraffin-embedded (FFPE) samples from a single institution were examined with the Illumina HumanMethylation450K (HM450K) array...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27409982/assessment-of-paxgene-fixation-on-preservation-of-morphology-and-nucleic-acids-in-microdissected-retina-tissue
#20
Ying Liu, Deepak P Edward
AIM: To compare the effect of the two fixatives on tissue morphology and utility to obtain good quality nucleic acids for molecular analysis from micro-dissected retinal samples. METHODS: Enucleated specimens from New Zealand white rabbits were fixed in formalin or PAXgene fixative according to standard protocols, and then processed and embedded in paraffin for sectioning. Sections were stained with hematoxylin and eosin to assess the structural integrity of retina...
January 2017: Current Eye Research
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