Journal ArticleJ Gastrointest Oncol · October 31, 2023
BACKGROUND: Evaluation for activating mutations in KRAS, NRAS, and BRAF in colorectal cancer (CRC) and in KRAS in pancreatic ductal adenocarcinoma (PDAC) is essential for clinical care. Plasma cell-free DNA (cfDNA) next-generation sequencing (NGS) allows c ...
Full textLink to itemCite
Journal ArticleScience · October 6, 2023
During the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, multiple variants escaping preexisting immunity emerged, causing reinfections of previously exposed individuals. Here, we used antigenic cartography to analyze patterns of cr ...
Full textOpen AccessLink to itemCite
Journal ArticleOncologist · January 18, 2023
OBJECTIVE: The majority of tumor sequencing currently performed on cancer patients does not include a matched normal control, and in cases where germline testing is performed, it is usually run independently of tumor testing. The rates of concordance betwe ...
Full textOpen AccessLink to itemCite
Journal ArticleSci Rep · November 9, 2022
Patients with non-small cell lung cancer (NSCLC) who have distant metastases have a poor prognosis. To determine which genomic factors of the primary tumor are associated with metastasis, we analyzed data from 759 patients originally diagnosed with stage I ...
Full textLink to itemCite
Journal ArticleJ Appl Lab Med · October 29, 2022
BACKGROUND: Therapeutic monoclonal antibodies can be a source of assay interference in clinical serum protein electrophoresis (SPEP) and immunofixation electrophoresis (IFE), producing monoclonal bands that can be misinterpreted as a monoclonal gammopathy ...
Full textOpen AccessLink to itemCite
Journal ArticleNat Commun · May 20, 2022
The lack of validated, distributed comprehensive genomic profiling assays for patients with cancer inhibits access to precision oncology treatment. To address this, we describe elio tissue complete, which has been FDA-cleared for examination of 505 cancer- ...
Full textLink to itemCite
Journal ArticleClin Lung Cancer · November 2021
INTRODUCTION: A high tumor mutational burden (TMB) (≥10 mut/Mb) has been associated with improved clinical benefit in non-small cell lung cancer (NSCLC) treated with immune checkpoint inhibitors (ICI) and is a tumor agnostic indication for pembrolizumab ac ...
Full textLink to itemCite
Journal ArticleJ Mol Diagn · October 2021
Genomic tumor profiling by next-generation sequencing (NGS) allows for large-scale tumor testing to inform targeted cancer therapies and immunotherapies, and to identify patients for clinical trials. These tests are often underutilized in patients with lat ...
Full textLink to itemCite
Journal ArticleTransplant Proc · May 2021
Cancer transmission from a donor organ to a transplant recipient is a rare but not infrequently fatal event. We report a case of lung cancer transmission from a deceased donor to 2 kidney recipients. Approximately 1 year after uneventful kidney transplanta ...
Full textLink to itemCite
Journal ArticleInfect Control Hosp Epidemiol · March 2021
We implemented universal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing of patients undergoing surgical procedures as a means to conserve personal protective equipment (PPE). The rate of asymptomatic coronavirus disease 2019 (COVID-19 ...
Full textOpen AccessLink to itemCite
Journal ArticleTarget Oncol · January 2021
BACKGROUND: Recent advances in next-generation sequencing have allowed for an increase in molecular tumor profiling. OBJECTIVE: We sought to assess the actionability and clinical utilization of molecular tumor profiling results obtained via Foundation Medi ...
Full textLink to itemCite
Journal ArticleJCO Precis Oncol · 2021
UNLABELLED: Comprehensive genomic profiling to inform targeted therapy selection is a central part of oncology care. However, the volume and complexity of alterations uncovered through genomic profiling make it difficult for oncologists to choose the most ...
Full textLink to itemCite
Journal ArticleJAMA Netw Open · December 1, 2020
This diagnostic study describes an online tool created with actual severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus copy number data to help policy makers understand how pooled testing compares with single-sample testing in different popu ...
Full textOpen AccessLink to itemCite
Journal ArticleMMWR Morb Mortal Wkly Rep · November 20, 2020
On university campuses and in similar congregate environments, surveillance testing of asymptomatic persons is a critical strategy (1,2) for preventing transmission of SARS-CoV-2, the virus that causes coronavirus disease 2019 (COVID-19). All students at D ...
Full textOpen AccessLink to itemCite
Journal ArticleTransl Lung Cancer Res · June 2019
BACKGROUND: Data describing therapeutic outcomes in patients with non-small cell lung cancers (NSCLC) with BRAF mutations remains limited. METHODS: We conducted a retrospective cohort study of 31 patients with metastatic NSCLC treated at Duke University Ho ...
Full textOpen AccessLink to itemCite
Journal ArticleCell Syst · October 24, 2018
We present an integromic analysis of gene alterations that modulate transforming growth factor β (TGF-β)-Smad-mediated signaling in 9,125 tumor samples across 33 cancer types in The Cancer Genome Atlas (TCGA). Focusing on genes that encode mediators and re ...
Full textLink to itemCite
Journal ArticleCancer Cytopathol · July 2018
BACKGROUND: The ThyroSeq mutational panel and Afirma gene expression classifier (GEC) are used to risk stratify cytologically indeterminate thyroid nodules. In the current study, the authors evaluated the performance of these tests within the context of ul ...
Full textLink to itemCite
Journal ArticleJ Mol Diagn · January 2018
Authors' Reply to the Letter to the Editor by Montgomery et al (Identification of Germline Variants in Tumor Genomic Sequencing Analysis. J Mol Diagn 2017, 19:XXXX-XXXX). ...
Full textLink to itemCite
Journal ArticleJ Mol Diagn · January 2017
Widespread clinical laboratory implementation of next-generation sequencing-based cancer testing has highlighted the importance and potential benefits of standardizing the interpretation and reporting of molecular results among laboratories. A multidiscipl ...
Full textLink to itemCite
Journal ArticleCancer Cytopathol · December 2016
BACKGROUND: Molecular testing provides an important ancillary study for thyroid nodules with indeterminate cytology. The nomenclature shift to "noninvasive follicular thyroid neoplasm with papillary-like nuclear features" (NIFTP) will impact the performanc ...
Full textLink to itemCite
Chapter · January 1, 2016
The chemistry and structure of nucleic acids are discussed with emphasis on the nucleobases including the use of nucleoside analogues as drugs. The importance of complementarity in nucleic acid function is discussed including presentation of a DNA melting ...
Full textCite
Journal ArticleGenet Med · January 2015
PURPOSE: The purpose of this study was to analyze laboratory performance on proficiency testing surveys offered jointly by the College of American Pathologists/American College of Medical Genetics and Genomics biannually for the three common Ashkenazi Jewi ...
Full textLink to itemCite
Journal ArticleJ Mol Diagn · September 2014
Next-generation sequencing shows great promise by allowing rapid mutational analysis of multiple genes in human cancers. Recently, we implemented the multiplex PCR-based Ion AmpliSeq Cancer Hotspot Panel (>200 amplicons in 50 genes) to evaluate EGFR, KRAS, ...
Full textLink to itemCite
Journal ArticleCancer Invest · July 2014
The biopsy collection data from two lung cancer trials that required fresh tumor samples be obtained for microarray analysis were reviewed. In the trial for advanced disease, microarray data were obtained on 50 patient samples, giving an overall success ra ...
Full textLink to itemCite
Journal ArticleGenome Med · 2014
With the emergence of electronic medical records and patient portals, patients are increasingly able to access their health records, including laboratory reports. However, laboratory reports are usually written for clinicians rather than patients, who may ...
Full textLink to itemCite
Journal ArticleJ Pediatr Hematol Oncol · October 2012
MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disea ...
Full textOpen AccessLink to itemCite
Journal ArticleMol Cancer Ther · July 2012
Despite advances in contemporary chemotherapeutic strategies, long-term survival still remains elusive for patients with metastatic colorectal cancer. A better understanding of the molecular markers of drug sensitivity to match therapy with patient is need ...
Full textLink to itemCite
Journal ArticleLeuk Lymphoma · May 2012
While the majority of patients with early-stage mycosis fungoides (MF) have an excellent prognosis, a few cases progress to secondary Sezary syndrome (sSS), which carries a dismal clinical outcome. We retrospectively analyzed 135 cases of MF/SS and correla ...
Full textLink to itemCite
Journal ArticleGenet Med · March 2012
PURPOSE: The College of American Pathologists offers biannual proficiency testing for molecular analysis of fragile X syndrome. The purpose of this study was to analyze laboratory performance on the fragile X proficiency surveys from 2001 to 2009. METHODS: ...
Full textLink to itemCite
Journal ArticleLeuk Lymphoma · February 2012
Patients with chronic lymphocytic leukemia (CLL) with deletion or mutation of TP53 have exceedingly poor clinical outcomes. Cenersen, an oligonucleotide targeting TP53, has been shown to abrogate the activity of TP53 gain-of-function mutants and to increas ...
Full textLink to itemCite
Journal ArticleJ Mol Diagn · 2012
In some cancer types, certain genes behave as molecular switches, with on and off expression states. These genes tend to define tumor subtypes associated with different treatments and different patient survival. We hypothesized that clinically relevant mol ...
Full textLink to itemCite
Journal ArticleNeoplasia · August 2011
The type III TGF-β receptor (TβRIII or betagylcan) is a TGF-β superfamily coreceptor with emerging roles in regulating TGF-β superfamily signaling and cancer progression. Alterations in TGF-β superfamily signaling are common in colon cancer; however, the r ...
Full textLink to itemCite
Journal ArticleAm J Clin Pathol · April 2011
We report 10 cases of donor cell leukemia (DCL). All cases except the case of chronic lymphocytic leukemia had anemia, neutropenia, and/or thrombocytopenia when DCL was diagnosed. Eight cases with sex-mismatched hematopoietic stem cell transplant (HCT) sho ...
Full textLink to itemCite
Journal ArticleAm J Surg Pathol · March 2011
Follicular lymphoma (FL) often transforms to diffuse large B-cell lymphoma (DLBCL) during its protracted clinical course. Rarely, histiocytic sarcoma (HS) occurs secondary to or concurrent with FL, although the biological relationship between these 2 morph ...
Full textLink to itemCite
Journal ArticleJ Mol Diagn · July 2010
Featured Publication
Donor cell neoplasms are rare complications of treatment regimens that involve stem cell transplantation for hematological malignancies, myelodysplastic processes, or certain genetic or metabolic disorders. We report a case of donor cell leukemia in a pedi ...
Full textOpen AccessLink to itemCite
Journal ArticleJ Immunol · May 15, 2010
Featured Publication
Initial exposure of monocytes/macrophages to LPS induces hyporesponsiveness to a second challenge with LPS, a phenomenon termed LPS tolerance. Molecular mechanisms responsible for endotoxin tolerance are not well defined. We and others have shown that IL-1 ...
Full textLink to itemCite
Journal ArticleJ Clin Oncol · May 1, 2010
Featured Publication
PURPOSE: Identifying sources of variation in expression microarray data and the effect of variance in gene expression measurements on complex predictive and diagnostic models is essential when translating microarray-based experimental approaches into clini ...
Full textLink to itemCite
Journal ArticleProc Natl Acad Sci U S A · April 13, 2010
Featured Publication
The hallmark of human cancer is heterogeneity, reflecting the complexity and variability of the vast array of somatic mutations acquired during oncogenesis. An ability to dissect this heterogeneity, to identify subgroups that represent common mechanisms of ...
Full textLink to itemCite
Journal ArticleJ Biol Chem · September 11, 2009
Featured Publication
NDRG4 is a largely unstudied member of the predominantly tumor suppressive N-Myc downstream-regulated gene (NDRG) family. Unlike its family members NDRG1-3, which are ubiquitously expressed, NDRG4 is expressed almost exclusively in the heart and brain. Giv ...
Full textLink to itemCite
Journal ArticleBrain Pathol · July 2009
Featured Publication
Chordoid gliomas are rare, slow-growing neoplasms of the anterior third ventricle. We reported a case of chordoid glioma in a 41-year-old man with obstructive hydrocephalus. Histologically, the tumor consisted of polygonal epithelioid cells admixed with el ...
Full textLink to itemCite
Journal ArticleJ Biol Chem · April 25, 2008
Featured Publication
In vivo protein kinases A and G (PKA and PKG) coordinately phosphorylate a broad range of substrates to mediate their various physiological effects. The functions of many of these substrates have yet to be defined genetically. Herein we show a role for smo ...
Full textLink to itemCite
Journal ArticleGenes Dev · February 1, 2008
Featured Publication
Metastasis, the major cause of cancer death, is a multistep process that requires interactions between cancer cells and stromal cells and between cancer cells and extracellular matrix. Molecular alterations of the extracellular matrix in the tumor microenv ...
Full textLink to itemCite
Journal ArticleCell Signal · October 2006
Featured Publication
Protein phosphatase-1 (PP1), through interactions with substrate targeting subunits, plays critical roles in the regulation of numerous cellular processes. Herein, we describe a newly identified regulatory subunit (PITK; Phosphatase Interactor Targeting K ...
Full textLink to itemCite
Journal ArticleCell · June 2, 2006
Featured Publication
In this issue of Cell, Lin et al. (2006) answer one of the long-standing questions in the TGFbeta field by identifying a phosphatase, PPM1A, that directly dephosphorylates Smad2 and Smad3 to limit their activation. ...
Full textLink to itemCite
Journal ArticleCell · April 8, 2005
Featured Publication
Effects of the cytokine TGF-beta can be dampened by E3 ubiquitin ligases that target specific Smads, the TGF-beta signal transducers, for proteolytic destruction. Two papers in this issue of Cell highlight the importance of this mechanism in regulating the ...
Full textLink to itemCite
Journal ArticleMod Pathol · February 2004
Featured Publication
We have observed an increasing number of autopsies on patients with chemotherapy-related complications. One complication is toxic leukoencephalopathy, which is due to a direct toxic effect of chemotherapeutic agents on the central nervous system white matt ...
Full textLink to itemCite
Journal ArticleAm J Physiol Lung Cell Mol Physiol · March 2002
Featured Publication
Transforming growth factor-beta (TGF-beta) signaling plays an important regulatory role during lung fibrogenesis. Smad3 was identified in the pathway for transducing TGF-beta signals from the cell membrane to the nucleus. Using mice without Smad3 gene expr ...
Full textLink to itemCite
Journal ArticleJ Bone Miner Res · October 2001
Featured Publication
Smad3 is a well-characterized intracellular effector of the transforming growth factor beta (TGF-beta) signaling pathway and was implicated recently in the potentiation of vitamin D receptor (VDR)-mediated signaling. Given that both TGF-beta and vitamin D ...
Full textLink to itemCite
Journal ArticleOncogene · February 22, 2001
Featured Publication
We have previously shown that RB plays an important role in the maintenance of the epithelial phenotype. p21 is also involved in several terminal differentiation systems including keratinocytes. We report here that p21 is an RB target gene in epithelial ce ...
Full textLink to itemCite
Journal ArticleCytokine Growth Factor Rev · 2000
Featured Publication
The field of transforming growth factor-beta (TGF-beta) signaling sees periodic discoveries that revolutionize our thinking, redirect our experiments, and peak our excitement. One of the first such discoveries was less than a decade ago: the molecular clon ...
Full textLink to itemCite
Journal ArticleJ Biol Chem · December 3, 1999
Featured Publication
We sought to characterize the pathway by which the multifunctional cytokine transforming growth factor-beta (TGF-beta) inhibits the proliferation of normal astrocytes, and we analyzed the alterations in the TGF-beta pathway in human glioma cell lines. Upon ...
Full textLink to itemCite
Journal ArticleOncogene · November 4, 1999
Featured Publication
p21Cip1/Waf1 cyclin-dependent kinase inhibitor (p21) is inducible by Raf and mitogen-activated protein kinase kinase (MAPKK), but the level of regulation is unknown. We show here by conditional and transient Ras-expression models that Ras induces p21. Indu ...
Full textLink to itemCite
Journal ArticleOncogene · May 6, 1999
Featured Publication
Addition of nerve growth factor (NGF) to PC12 cells promotes neuronal differentiation while inhibiting cell proliferation. In order to understand how NGF exerts its antimitogenic effect during differentiation, we have studied the mechanism by which this fa ...
Full textLink to itemCite
Journal ArticleProc Natl Acad Sci U S A · April 27, 1999
Featured Publication
Smad3 and Smad4 are sequence-specific DNA-binding factors that bind to their consensus DNA-binding sites in response to transforming growth factor beta (TGFbeta) and activate transcription. Recent evidence implicates Smad3 and Smad4 in the transcriptional ...
Full textLink to itemCite
Journal ArticleExp Cell Res · April 10, 1999
Featured Publication
p53 target genes p21(Cip1/Waf1) cyclin-kinase inhibitor (p21 CKI), GADD45, bax, and cyclin G and genes affecting the redox state of the cells are implicated in p53 damage control responses. In order to attribute their functions and dependency of p53 in UV- ...
Full textLink to itemCite
Journal ArticleMol Cell Biol · April 1999
Featured Publication
The Smads are a family of nine related proteins which function as signaling intermediates for the transforming growth factor beta (TGF-beta) superfamily of ligands. To discern the in vivo functions of one of these Smads, Smad3, we generated mice harboring ...
Full textLink to itemCite
Journal ArticleMol Cell Biol · March 1999
Featured Publication
Transcriptional regulation by transforming growth factor beta (TGF-beta) is a complex process which is likely to involve cross talk between different DNA responsive elements and transcription factors to achieve maximal promoter activation and specificity. ...
Full textLink to itemCite
Journal ArticleMol Biol Cell · December 1998
Featured Publication
Smads are intermediate effector proteins that transduce the TGF-beta signal from the plasma membrane to the nucleus, where they participate in transactivation of downstream target genes. We have shown previously that coactivators p300/CREB-binding protein ...
Full textLink to itemCite
Journal ArticleNucleic Acids Res · May 15, 1998
Featured Publication
Transforming growth factor beta (TGF-beta) causes growth arrest at the G1 phase of the cell cycle in most cell types. Both the cyclin dependent kinase inhibitor p15(INK4B) and p21(Cip1/WAF1) genes have been found to be induced by TGF-beta in human keratino ...
Full textLink to itemCite
Journal ArticleMol Cell Biol · December 1997
Featured Publication
Members of the Smad family of proteins are thought to play important roles in transforming growth factor beta (TGF-beta)-mediated signal transduction. In response to TGF-beta, specific Smads become inducibly phosphorylated, form heteromers with Smad4, and ...
Full textLink to itemCite
Journal ArticleMol Cell Biol · April 1997
Featured Publication
The adenovirus early gene product E1A is a potent stimulator of cellular proliferation, which when overexpressed can overcome the growth-inhibitory effects of the polypeptide hormone transforming growth factor beta (TGF-beta). The ability of TGF-beta to ar ...
Full textLink to itemCite
Journal ArticleJ Biol Chem · December 1, 1995
Featured Publication
The transforming growth factor beta s (TGF-beta s) are a group of multifunctional growth factors that inhibit cell cycle progression in many cell types. The TGF-beta-induced cell cycle arrest has been partially attributed to the regulatory effects of TGF-b ...
Full textLink to itemCite
Journal ArticleProc Natl Acad Sci U S A · June 6, 1995
Featured Publication
The transforming growth factor beta s (TGF-beta s) are a group of multifunctional growth factors which inhibit cell cycle progression in many cell types. The TGF-beta-induced cell cycle arrest has been partially attributed to the regulatory effects of TGF- ...
Full textLink to itemCite
Journal ArticleProc Natl Acad Sci U S A · January 17, 1995
Featured Publication
Inhibition of cell growth by type beta transforming growth factor (TGF-beta) occurs in mid-G1 and is associated with decreased G1 cyclin-dependent kinase activity and maintenance of the retinoblastoma tumor suppressor protein Rb in an underphosphorylated, ...
Full textLink to itemCite