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Full-Text Articles in Medical Specialties

Noncoding-Rna-Based Therapeutics With An Emphasis On Prostatic Carcinoma-Progress And Challenges., Victor E. Nava, Pin-Yu Perera, Nirbhay Kumar, Maneesh Jain Feb 2022

Noncoding-Rna-Based Therapeutics With An Emphasis On Prostatic Carcinoma-Progress And Challenges., Victor E. Nava, Pin-Yu Perera, Nirbhay Kumar, Maneesh Jain

Pathology Faculty Publications

Noncoding RNAs (ncRNAs) defy the central dogma by representing a family of RNA molecules that are not translated into protein but can convey information encoded in their DNA. Elucidating the exact function of ncRNA has been a focus of discovery in the last decade and remains challenging. Nevertheless, the importance of understanding ncRNA is apparent since these molecules regulate gene expression at the transcriptional and post-transcriptional level exerting pleiotropic effects critical in development, oncogenesis, and immunity. NcRNAs have been referred to as "the dark matter of the nucleus", and unraveling their role in physiologic and pathologic processes will provide vast …


A Summary Of The Inaugural Who Classification Of Pediatric Tumors: Transitioning From The Optical Into The Molecular Era., Stefan M Pfister, Miguel Reyes-Múgica, John K C Chan, Henrik Hasle, Alexander J Lazar, Sabrina Rossi, Andrea Ferrari, Jason A Jarzembowski, Kathy Pritchard-Jones, D. Ashley Hill, Thomas S Jacques, Pieter Wesseling, Dolores H López Terrada, Andreas Von Deimling, Christian P Kratz, Ian A Cree, Rita Alaggio Feb 2022

A Summary Of The Inaugural Who Classification Of Pediatric Tumors: Transitioning From The Optical Into The Molecular Era., Stefan M Pfister, Miguel Reyes-Múgica, John K C Chan, Henrik Hasle, Alexander J Lazar, Sabrina Rossi, Andrea Ferrari, Jason A Jarzembowski, Kathy Pritchard-Jones, D. Ashley Hill, Thomas S Jacques, Pieter Wesseling, Dolores H López Terrada, Andreas Von Deimling, Christian P Kratz, Ian A Cree, Rita Alaggio

Pathology Faculty Publications

Pediatric tumors are uncommon, yet are the leading cause of cancer-related death in childhood. Tumor types, molecular characteristics, and pathogenesis are unique, often originating from a single genetic driver event. The specific diagnostic challenges of childhood tumors led to the development of the first World Health Organization (WHO) Classification of Pediatric Tumors. The classification is rooted in a multilayered approach, incorporating morphology, IHC, and molecular characteristics. The volume is organized according to organ sites and provides a single, state-of-the-art compendium of pediatric tumor types. A special emphasis was placed on "blastomas," which variably recapitulate the morphologic maturation of organs from …


Low-Grade Primary Splenic Cd10-Positive Small B-Cell Lymphoma/Follicular Lymphoma, Rami Abdulbaki, Parastou Tizro, Victor E. Nava, Maria Gomes Da Silva, Joao L. Ascensao Nov 2021

Low-Grade Primary Splenic Cd10-Positive Small B-Cell Lymphoma/Follicular Lymphoma, Rami Abdulbaki, Parastou Tizro, Victor E. Nava, Maria Gomes Da Silva, Joao L. Ascensao

Pathology Faculty Publications

No abstract provided.


A New Pipeline For Clinico-Pathological And Molecular Placental Research Utilizing Ffpe Tissues., Jiaqi J O'Reilly, Stephanie Barak, Anna A Penn Aug 2021

A New Pipeline For Clinico-Pathological And Molecular Placental Research Utilizing Ffpe Tissues., Jiaqi J O'Reilly, Stephanie Barak, Anna A Penn

Pathology Faculty Publications

The placenta is at the core of many pregnancy pathologies, but we have limited knowledge about placental function because of two key research barriers: 1) lack of guidelines for sample collection and pathologic diagnosis; and 2) limited tools are available for molecular analysis of stored placental samples. We aimed to create a searchable, population-based placental database of pathologic diagnoses, and to validate molecular methods for gene expression studies of matching formalin fixed paraffin embedded (FFPE) placental blocks. Our database has over 1000 pregnancies coded for clinical diagnosis with corresponding FFPE blocks that are available for gene expression studies. RNA harvested …


Extending The Phenotypic Spectrum Of Sengers Syndrome: Congenital Lactic Acidosis With Synthetic Liver Dysfunction., David B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, Eyby Leon Apr 2018

Extending The Phenotypic Spectrum Of Sengers Syndrome: Congenital Lactic Acidosis With Synthetic Liver Dysfunction., David B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, Eyby Leon

Pathology Faculty Publications

Sengers syndrome is a rare autosomal recessive mitochondrial disease characterized by lactic acidosis, hypertrophic cardiomyopathy and bilateral cataracts. We present here a case of neonatal demise, within the first day of life, who initially presented with severe lactic acidosis, with evidence of both chorioamnionitis and cardiogenic shock. Initial metabolic labs demonstrated a severe lactic acidosis prompting genetic testing which revealed a homozygous pathogenic variant for Sengers syndrome in


Pd-L1 Checkpoint Inhibition And Anti-Ctla-4 Whole Tumor Cell Vaccination Counter Adaptive Immune Resistance: A Mouse Neuroblastoma Model That Mimics Human Disease., Priya Srinivasan, Xiaofang Wu, Mousumi Basu, Christopher Rossi, Anthony D Sandler Jan 2018

Pd-L1 Checkpoint Inhibition And Anti-Ctla-4 Whole Tumor Cell Vaccination Counter Adaptive Immune Resistance: A Mouse Neuroblastoma Model That Mimics Human Disease., Priya Srinivasan, Xiaofang Wu, Mousumi Basu, Christopher Rossi, Anthony D Sandler

Pathology Faculty Publications

BACKGROUND: Adaptive immune resistance induces an immunosuppressive tumor environment that enables immune evasion. This phenomenon results in tumor escape with progression and metastasis. Programmed cell death-ligand 1 (PD-L1) expressed on tumors is thought to inhibit tumor-infiltrating lymphocytes (TILs) through programmed cell death 1 (PD1), enabling adaptive immune resistance. This study investigates the role of PD-L1 in both mouse and human neuroblastoma immunity. The consequence of PD-L1 inhibition is characterized in the context of an established whole tumor cell vaccine.

METHODS AND FINDINGS: A mouse model of neuroblastoma was investigated using an Id2 knockdown whole cell vaccine in combination with checkpoint …


The Pathology Workforce And Clinical Licensure, Robin Lorenz, Donald S. Karcher, Michael Gautreaux, Melvin Limson, Dani Zander Jan 2018

The Pathology Workforce And Clinical Licensure, Robin Lorenz, Donald S. Karcher, Michael Gautreaux, Melvin Limson, Dani Zander

Pathology Faculty Publications

There has been a recent recognition of the need to prepare PhD-trained scientists for increasingly diverse careers in academia, industry, and health care. The PhD Data Task Force was formed to better understand the current state of PhD scientists in the clinical laboratory workforce and collect up-to-date information on the training and certification of these laboratorians. In this report, we summarize the findings of the PhD Data Task Force and discuss the relevance of the data collected to the future supply of and demand for PhD clinical laboratory scientists. It is clear that there are multiple career opportunities for PhD …


Acute Myelomonocytic Leukemia With Tetrasomy 8: Histologic And Immunophenotypic Features Mimicking Acute Promyelocytic Leukemia, Amar Jariwala, Donald S. Karcher Sep 2017

Acute Myelomonocytic Leukemia With Tetrasomy 8: Histologic And Immunophenotypic Features Mimicking Acute Promyelocytic Leukemia, Amar Jariwala, Donald S. Karcher

Pathology Faculty Publications

Rare cases of acute myeloid leukemia (AML) with tetrasomy 8 have been reported. Tetrasomy 8, a poor prognostic factor, has been predominantly associated with AML with monocytic differentiation. We report an unusual case of acute myelomonocytic leukemia (AMML) with tetrasomy 8 showing histologic and immunophenotypic features mimicking acute promyelocytic leukemia (APL). The patient is a 63-year-old African American man with molar pain, gum swelling and bleeding, generalized fatigue, leukocytosis, anemia, and thrombocytopenia. A peripheral blood smear showed increased white cells with many immature granulocytic forms. Approximately 40% of the cells exhibited classical blast morphology, 40% were slightly enlarged and exhibited …


Alk-Positive Primary Central Nervous System Anaplastic Large T-Cell Lymphoma: A Unique Case Presentation, Amar Jariwala, M Isabel Almira-Suarez, Elsie Lee Sep 2017

Alk-Positive Primary Central Nervous System Anaplastic Large T-Cell Lymphoma: A Unique Case Presentation, Amar Jariwala, M Isabel Almira-Suarez, Elsie Lee

Pathology Faculty Publications

Anaplastic large cell lymphoma (ALCL) is a rare T-cell lymphoma usually ALK+ and presenting in immunocompetent young adults and children with a female preponderance. Central nervous system (CNS) involvement of ALCL T-cell lymphoma is extremely rare; approximately 30 cases are reported in the literature, mostly in male patients of Korean and Japanese ancestry and involving the parietal and frontal lobes. We report a unique case of ALK+ ALCL in an Asian woman and predominantly involving the occipital lobe. The patient, an immuno-competent 18-year-old woman with a recent history of viral meningitis, presented with left-sided vision changes. Magnetic resonance …


Diagnosis Of Lchad/Tfp Deficiency In An At Risk Newborn Using Umbilical Cord Blood Acylcarnitine Analysis, Donna Raval, Kristina Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura Kofman, Brendan Lanpher, Natalie Hauser, Debra Regier Mar 2017

Diagnosis Of Lchad/Tfp Deficiency In An At Risk Newborn Using Umbilical Cord Blood Acylcarnitine Analysis, Donna Raval, Kristina Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura Kofman, Brendan Lanpher, Natalie Hauser, Debra Regier

Pathology Faculty Publications

Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitines. The feasibility of umbilical cord blood use in screening for acylcarnitine analysis and free carnitine has been hypothesized but not reported in LCHAD/TFP neonates.

We present a 4 week old female who was at risk of inheriting LCHAD/TFP deficiency and was diagnosed at the time of delivery using umbilical cord blood. Umbilical cord blood was collected at delivery and sent for acylcarnitine analysis. Treatment was started …


The Effect Of Hiv Infection And Hcv Viremia On Inflammatory Mediators And Hepatic Injury-The Women's Interagency Hiv Study., Sheila M Keating, Jennifer L Dodge, Philip J Norris, John Heitman, Stephen J Gange, Audrey L French, Marshall J Glesby, Brian R Edlin, Patricia S Latham, Maria C Villacres, Ruth M Greenblatt, Marion G Peters Jan 2017

The Effect Of Hiv Infection And Hcv Viremia On Inflammatory Mediators And Hepatic Injury-The Women's Interagency Hiv Study., Sheila M Keating, Jennifer L Dodge, Philip J Norris, John Heitman, Stephen J Gange, Audrey L French, Marshall J Glesby, Brian R Edlin, Patricia S Latham, Maria C Villacres, Ruth M Greenblatt, Marion G Peters

Pathology Faculty Publications

Hepatitis C virus infection induces inflammation and while it is believed that HIV co-infection enhances this response, HIV control may reduce inflammation and liver fibrosis in resolved or viremic HCV infection. Measurement of systemic biomarkers in co-infection could help define the mechanism of inflammation on fibrosis and determine if HIV control reduces liver pathology. A nested case-control study was performed to explore the relationship of systemic biomarkers of inflammation with liver fibrosis in HCV viremic and/or seropositive women with and without HIV infection. Serum cytokines, chemokines, growth factors and cell adhesion molecules were measured in HIV uninfected (HIV-, n = …


Concurrent Presentation Of Waldenstrom's Macroglobulinemia And Angioimmunoblastic T-Cell Lymphoma, Amar Jariwala, Fadi Alakeel, Elsie Lee, Donald S. Karcher Sep 2016

Concurrent Presentation Of Waldenstrom's Macroglobulinemia And Angioimmunoblastic T-Cell Lymphoma, Amar Jariwala, Fadi Alakeel, Elsie Lee, Donald S. Karcher

Pathology Faculty Publications

A 73-year-old woman presented with generalized lymphadenopathy, atypical peripheral blood lymphocytosis, and Coombs-positive hemolytic anemia. She was diagnosed with Waldenstrom macroglobulinemia (WM)/lymphoplasmacytic lymphoma (LPL), on the basis of IgM monoclonal gammopathy, significant lymphoplasmacytic infiltrate in bone marrow, circulating plasmacytoid lymphocytes in peripheral blood, monoclonal B lymphocytes with LPL-compatible immunophenotype by flow cytometry in bone marrow and peripheral blood, and clonal immunoglobulin heavy-chain gene rearrangement by polymerase chain reaction in peripheral blood. Molecular study results for MYB deletion and MYD88 mutation were negative. Following brief chemotherapy for WM, the patient's IgM monoclonal gammopathy and hemolytic anemia improved and the number of …


Hepatic Fibrosis And Immune Phenotype Vary By Hcv Viremia In Hcv/Hiv Co-Infected Subjects: A Women's Interagency Hiv Study., Seema N Desai, Jennifer L Dodge, Alan L Landay, Marshall J Glesby, Patricia S. Latham, Maria C Villacres, Audrey L French, Stephen J Gange, Ruth M Greenblatt, Marion G Peters Aug 2016

Hepatic Fibrosis And Immune Phenotype Vary By Hcv Viremia In Hcv/Hiv Co-Infected Subjects: A Women's Interagency Hiv Study., Seema N Desai, Jennifer L Dodge, Alan L Landay, Marshall J Glesby, Patricia S. Latham, Maria C Villacres, Audrey L French, Stephen J Gange, Ruth M Greenblatt, Marion G Peters

Pathology Faculty Publications

HCV and HIV independently lead to immune dysregulation. The mechanisms leading to advanced liver disease progression in HCV/HIV coinfected subjects remain unclear.

In this cross-sectional study, we assessed the association of HCV viremia, liver fibrosis, and immune response patterns in well-characterized HIV phenotypes: Elite controllers (Elites), HIV controlled (ARTc), and HIV uncontrolled (ARTuc) matched by age and race. Groups were stratified by HCV RNA status. Regulatory T-cell frequencies, T-cell activation (HLADR+CD38+), apoptosis (Caspase-3+), and intracellular cytokines (interferon-γ, IL-2, IL-17) were assessed using multiparametric flow-cytometry. Liver fibrosis was scored by AST to platelet ratio index (APRI).

We found liver fibrosis (APRI) …


Human Herpesvirus Multiplex Ddpcr Detection In Brain Tissue From Low- And High-Grade Astrocytoma Cases And Controls., Cheng-Te Major Lin, Emily C Leibovitch, M Isabel Almira-Suarez, Steven Jacobson Jul 2016

Human Herpesvirus Multiplex Ddpcr Detection In Brain Tissue From Low- And High-Grade Astrocytoma Cases And Controls., Cheng-Te Major Lin, Emily C Leibovitch, M Isabel Almira-Suarez, Steven Jacobson

Pathology Faculty Publications

BACKGROUND: Glioblastoma (GBM) is a fatal CNS malignancy, representing 50 % of all gliomas with approximately 12-18 months survival time after initial diagnosis. Recently, the human herpesvirus cytomegalovirus (CMV) has been suggested to have an oncogenic role, yet this association remains controversial. In addition, human herpesvirus 6 (HHV-6) and Epstein-Barr virus (EBV) have also been associated with low-grade gliomas, but few studies have examined HHV-6 and EBV in glioblastomas. Droplet digital PCR (ddPCR) is a highly precise diagnostic tool that enables the absolute quantification of target DNA. This study examines the association between multiple human herpesviruses and astrocytomas.

METHODS: This …


Membranoproliferative Glomerulonephritis Recurrence After Kidney Transplantation: Using The New Classification., Sami Alasfar, Naima Carter-Monroe, Avi Z Rosenberg, Robert A Montgomery, Nada Alachkar Jan 2016

Membranoproliferative Glomerulonephritis Recurrence After Kidney Transplantation: Using The New Classification., Sami Alasfar, Naima Carter-Monroe, Avi Z Rosenberg, Robert A Montgomery, Nada Alachkar

Pathology Faculty Publications

BACKGROUND: Membranoproliferative glomerulonephritis (MPGN) is an uncommon glomerular disorder that may lead to end stage renal disease (ESRD). With new understanding of the disease pathogenesis, the classical classification as MPGN types I, II, III has changed. Data on post-transplant MPGN, in particular with the newly refined classification, is limited. We present our center's experience of MPGN after kidney transplantation using the new classification.

METHODS: This is a retrospective study of 34 patients with ESRD due to MPGN who received 40 kidney transplants between 1994 and 2014. We reviewed the available biopsies' data using the new classification. We assessed post transplantation …


The Application Of Digital Pathology To Improve Accuracy In Glomerular Enumeration In Renal Biopsies., Avi Z Rosenberg, Matthew Palmer, Lino Merlino, Jonathan P Troost, Adil Gasim, Serena Bagnasco, Carmen Avila-Casado, Duncan Johnstone, Jeffrey B Hodgin, Catherine Conway, Brenda W Gillespie, Cynthia C Nast, Laura Barisoni, Stephen M Hewitt Jan 2016

The Application Of Digital Pathology To Improve Accuracy In Glomerular Enumeration In Renal Biopsies., Avi Z Rosenberg, Matthew Palmer, Lino Merlino, Jonathan P Troost, Adil Gasim, Serena Bagnasco, Carmen Avila-Casado, Duncan Johnstone, Jeffrey B Hodgin, Catherine Conway, Brenda W Gillespie, Cynthia C Nast, Laura Barisoni, Stephen M Hewitt

Pathology Faculty Publications

BACKGROUND: In renal biopsy reporting, quantitative measurements, such as glomerular number and percentage of globally sclerotic glomeruli, is central to diagnostic accuracy and prognosis. The aim of this study is to determine the number of glomeruli and percent globally sclerotic in renal biopsies by means of registration of serial tissue sections and manual enumeration, compared to the numbers in pathology reports from routine light microscopic assessment.

DESIGN: We reviewed 277 biopsies from the Nephrotic Syndrome Study Network (NEPTUNE) digital pathology repository, enumerating 9,379 glomeruli by means of whole slide imaging. Glomerular number and the percentage of globally sclerotic glomeruli are …


T Cell/Histiocyte-Rich Large B Cell Lymphoma Of The Thymus: A Diagnostic Pitfall., Jie Xu, Xiaojun Wu, Vishnu Reddy Jan 2016

T Cell/Histiocyte-Rich Large B Cell Lymphoma Of The Thymus: A Diagnostic Pitfall., Jie Xu, Xiaojun Wu, Vishnu Reddy

Pathology Faculty Publications

T cell/histiocyte-rich large B cell lymphoma (THRLBCL) is predominantly a nodal disease, with extranodal involvement, such as bone marrow, spleen, and liver. However, primary THRLBCL has never been reported in the thymus in the English literature. Here we report a case of THRLBCL presenting as mediastinal mass and lymphadenopathy. Based on the frozen section diagnosis of "thymoma," a 12 cm mass was excised. A year later she developed multiple enlarged lymph nodes and pulmonary nodules. Consultant review of the excised mediastinal mass showed scattered large atypical cells that were CD20+ and PAX-5+ and negative for pan-cytokeratin, AE1, and AE3, compatible …


Mitosis In Circulating Tumor Cells Stratifies Highly Aggressive Breast Carcinomas., Daniel L. Adams, Diane K. Adams, Steingrimur Stefansson, Christian Haudenschild, Stuart S. Martin, Monica Charpentier, Saranya Chumsri, Massimo Cristofanilli, Cha-Mei Tang, R Katherine Alpaugh Jan 2016

Mitosis In Circulating Tumor Cells Stratifies Highly Aggressive Breast Carcinomas., Daniel L. Adams, Diane K. Adams, Steingrimur Stefansson, Christian Haudenschild, Stuart S. Martin, Monica Charpentier, Saranya Chumsri, Massimo Cristofanilli, Cha-Mei Tang, R Katherine Alpaugh

Pathology Faculty Publications

BACKGROUND: Enumeration of circulating tumor cells (CTCs) isolated from the peripheral blood of breast cancer patients holds promise as a clinically relevant, minimally invasive diagnostic test. However, CTC utility has been limited as a prognostic indicator of survival by the inability to stratify patients beyond general enumeration. In comparison, histological biopsy examinations remain the standard method for confirming malignancy and grading malignant cells, allowing for cancer identification and then assessing patient cohorts for prognostic and predictive value. Typically, CTC identification relies on immunofluorescent staining assessed as absent/present, which is somewhat subjective and limited in its ability to characterize these cells. …


Human Herpesvirus Multiplex Ddpcr Detection In Brain Tissue From Low- And High-Grade Astrocytoma Cases And Controls., Cheng-Te Major Lin, Emily C. Leibovitch, M. Isabel Almira-Suarez, Steven Jacobson Jan 2016

Human Herpesvirus Multiplex Ddpcr Detection In Brain Tissue From Low- And High-Grade Astrocytoma Cases And Controls., Cheng-Te Major Lin, Emily C. Leibovitch, M. Isabel Almira-Suarez, Steven Jacobson

Pathology Faculty Publications

BACKGROUND: Glioblastoma (GBM) is a fatal CNS malignancy, representing 50 % of all gliomas with approximately 12-18 months survival time after initial diagnosis. Recently, the human herpesvirus cytomegalovirus (CMV) has been suggested to have an oncogenic role, yet this association remains controversial. In addition, human herpesvirus 6 (HHV-6) and Epstein-Barr virus (EBV) have also been associated with low-grade gliomas, but few studies have examined HHV-6 and EBV in glioblastomas. Droplet digital PCR (ddPCR) is a highly precise diagnostic tool that enables the absolute quantification of target DNA. This study examines the association between multiple human herpesviruses and astrocytomas.

METHODS: This …


Tmsb4y Is A Candidate Tumor Suppressor On The Y Chromosome And Is Deleted In Male Breast Cancer., Hong Yuen Wong, Grace M Wang, Sarah Croessmann, Daniel J Zabransky, Anita Aggarwal, Min-Ling Liu, + 10 More Dec 2015

Tmsb4y Is A Candidate Tumor Suppressor On The Y Chromosome And Is Deleted In Male Breast Cancer., Hong Yuen Wong, Grace M Wang, Sarah Croessmann, Daniel J Zabransky, Anita Aggarwal, Min-Ling Liu, + 10 More

Pathology Faculty Publications

Male breast cancer comprises less than 1% of breast cancer diagnoses. Although estrogen exposure has been causally linked to the development of female breast cancers, the etiology of male breast cancer is unclear. Here, we show via fluorescence in situ hybridization (FISH) and droplet digital PCR (ddPCR) that the Y chromosome was clonally lost at a frequency of ~16% (5/31) in two independent cohorts of male breast cancer patients. We also show somatic loss of the Y chromosome gene TMSB4Y in a male breast tumor, confirming prior reports of loss at this locus in male breast cancers. To further understand …


Fibroblast Growth Factor 9 Regulation By Micrornas Controls Lung Development And Links Dicer1 Loss To The Pathogenesis Of Pleuropulmonary Blastoma, Yongjun Yin, Angela M. Castro, Marrit Hoekstra, Thomas J. Yan, Ajay C. Kanakamedala, Louis P. Dehner, D. Ashley Hill, David M. Ornitz May 2015

Fibroblast Growth Factor 9 Regulation By Micrornas Controls Lung Development And Links Dicer1 Loss To The Pathogenesis Of Pleuropulmonary Blastoma, Yongjun Yin, Angela M. Castro, Marrit Hoekstra, Thomas J. Yan, Ajay C. Kanakamedala, Louis P. Dehner, D. Ashley Hill, David M. Ornitz

Pathology Faculty Publications

Pleuropulmonary Blastoma (PPB) is the primary neoplastic manifestation of a pediatric cancer predisposition syndrome that is associated with several diseases including cystic nephroma, Wilms tumor, neuroblastoma, rhabdomyosarcoma, medulloblastoma, and ovarian Sertoli-Leydig cell tumor. The primary pathology of PPB, epithelial cysts with stromal hyperplasia and risk for progression to a complex primitive sarcoma, is associated with familial heterozygosity and lesion-associated epithelial loss-of-heterozygosity of DICER1. It has been hypothesized that loss of heterozygosity of DICER1 in lung epithelium is a non-cell autonomous etiology of PPB and a critical pathway that regulates lung development; however, there are no known direct targets of epithelial …


Cytometric Characterization Of Circulating Tumor Cells Captured By Microfiltration And Their Correlation To The Cellsearch(®) Ctc Test., Daniel L Adams, Steingrimur Stefansson, Christian Haudenschild, Stuart S Martin, Monica Charpentier, Saranya Chumsri, Massimo Cristofanilli, Cha-Mei Tang, R Katherine Alpaugh Feb 2015

Cytometric Characterization Of Circulating Tumor Cells Captured By Microfiltration And Their Correlation To The Cellsearch(®) Ctc Test., Daniel L Adams, Steingrimur Stefansson, Christian Haudenschild, Stuart S Martin, Monica Charpentier, Saranya Chumsri, Massimo Cristofanilli, Cha-Mei Tang, R Katherine Alpaugh

Pathology Faculty Publications

Recent studies reporting hundreds, to thousands, of circulating tumor cells (CTCs) in the blood of cancer patients have raised questions regarding the prevalence of CTCs, as enumerated by the CellSearch(®) CTC Test. Although CellSearch has been shown to consistently detect clinically relevant CTCs; the ability to only capture EpCAM positive cells has led to speculation that it captures limited subsets of CTCs. In contrast, alternative approaches to CTC isolation are often cited as capturing large numbers of CTCs from patient blood. Not surprisingly the number of cells isolated by alternative approaches show poor correlations when compared to CellSearch, even when …


A Standardized Autopsy Procurement Allows For The Comprehensive Study Of Dipg Biology., Madhuri Kambhampati, Jennifer P. Perez, Sridevi Yadavilli, Amanda M. Saratsis, D. Ashley Hill, Cheng-Ying Ho, Eshini Panditharatna, Melissa Markel, Roger J. Packer, Javad Nazarian Jan 2015

A Standardized Autopsy Procurement Allows For The Comprehensive Study Of Dipg Biology., Madhuri Kambhampati, Jennifer P. Perez, Sridevi Yadavilli, Amanda M. Saratsis, D. Ashley Hill, Cheng-Ying Ho, Eshini Panditharatna, Melissa Markel, Roger J. Packer, Javad Nazarian

Pathology Faculty Publications

Diffuse intrinsic pontine glioma (DIPG) is one of the least understood and most deadly childhood cancers. Historically, there has been a paucity of DIPG specimens for molecular analysis. However, due to the generous participation of DIPG families in programs for postmortem specimen donation, there has been a recent surge in molecular analysis of newly available tumor specimens. Collaborative efforts to share data and tumor specimens have resulted in rapid discoveries in other pediatric brain tumors, such as medulloblastoma, and therefore have the potential to shed light on the biology of DIPG. Given the generous gift of postmortem tissue donation from …


An Innovative Interactive Modeling Tool To Analyze Scenario-Based Physician Workforce Supply And Demand, Saurabh Gupta, W. Stephen Black-Schaffer, James M. Crawford, David Gross, Donald S. Karcher, Jill Kaufman, +13 Additional Authors Jan 2015

An Innovative Interactive Modeling Tool To Analyze Scenario-Based Physician Workforce Supply And Demand, Saurabh Gupta, W. Stephen Black-Schaffer, James M. Crawford, David Gross, Donald S. Karcher, Jill Kaufman, +13 Additional Authors

Pathology Faculty Publications

Effective physician workforce management requires that the various organizations comprising the House of Medicine be able to assess their current and future workforce supply. This information has direct relevance to funding of graduate medical education. We describe a dynamic modeling tool that examines how individual factors and practice variables can be used to measure and forecast the supply and demand for existing and new physician services. The system we describe, while built to analyze the pathologist workforce, is sufficiently broad and robust for use in any medical specialty. Our design provides a computer-based software model populated with data from surveys …


The Transcriptional Profile Of Coronary Arteritis In Kawasaki Disease., Anne H Rowley, Kristine M Wylie, Kwang-Youn A Kim, Adam J Pink, Amy Yang, Jan M. Orenstein, +6 Additional Authors Jan 2015

The Transcriptional Profile Of Coronary Arteritis In Kawasaki Disease., Anne H Rowley, Kristine M Wylie, Kwang-Youn A Kim, Adam J Pink, Amy Yang, Jan M. Orenstein, +6 Additional Authors

Pathology Faculty Publications

BACKGROUND: Kawasaki Disease (KD) can cause potentially life-threatening coronary arteritis in young children, and has a likely infectious etiology. Transcriptome profiling is a powerful approach to investigate gene expression in diseased tissues. RNA sequencing of KD coronary arteries could elucidate the etiology and the host response, with the potential to improve KD diagnosis and/or treatment.

METHODS: Deep RNA sequencing was performed on KD (n = 8) and childhood control (n = 7) coronary artery tissues, revealing 1074 differentially expressed mRNAs. Non-human RNA sequences were subjected to a microbial discovery bioinformatics platform, and microbial sequences were analyzed by Metastats for association …


Mir-638 Mediated Regulation Of Brca1 Affects Dna Repair And Sensitivity To Uv And Cisplatin In Triple Negative Breast Cancer, Xiaohui Tan, Jin Peng, Yebo Fu, Shejuan An, M. Katayoon Rezaei, Sana Tabbara, Christine B. Teal, Yan-Gao Man, Rachel F. Brem, Sidney W. Fu Sep 2014

Mir-638 Mediated Regulation Of Brca1 Affects Dna Repair And Sensitivity To Uv And Cisplatin In Triple Negative Breast Cancer, Xiaohui Tan, Jin Peng, Yebo Fu, Shejuan An, M. Katayoon Rezaei, Sana Tabbara, Christine B. Teal, Yan-Gao Man, Rachel F. Brem, Sidney W. Fu

Pathology Faculty Publications

Introduction

Triple-negative breast cancer (TNBC) represents 15 to 20% of all types of breast cancer; however, it accounts for a large number of metastatic cases and deaths, and there is still no effective treatment. The deregulation of microRNAs (miRNAs) in breast cancer has been widely reported. We previously identified that miR-638 was one of the most deregulated miRNAs in breast cancer progression. Bioinformatics analysis revealed that miR-638 directly targets BRCA1. The aim of this study was to investigate the role of miR-638 in breast cancer prognosis and treatment.

Methods

Formalin-fixed, paraffin-embedded (FFPE) breast cancer samples were microdissected into normal …


Metastatic Renal Cell Carconima To The Thyroid 23 Years After Nephrectomy, Carrie Valdez, M. Katayoon Rezaei, Frederick Hendricks, Stanley M. Knoll Jul 2014

Metastatic Renal Cell Carconima To The Thyroid 23 Years After Nephrectomy, Carrie Valdez, M. Katayoon Rezaei, Frederick Hendricks, Stanley M. Knoll

Pathology Faculty Publications

Thyroid carcinoma is an uncommon form of human cancer, with an outstanding overall cure rate. This excellent prognosis is based on the fact that well over 99% of thyroid cancers are primary tumors. Metastatic cancer to the thyroid remains very rare. We report a case of clear cell renal carcinoma metastatic to the thyroid gland 23 years after nephrectomy.


Concurrent Non-Ketotic Hyperglycinemia And Propionic Acidemia In An Eight Year Old Boy, Paul Kruszka, Brian Kirmse, Dina Zand, Kristina Cusmano-Ozog, Elaine Spector, John Hove, Kimberly A. Chapman Jan 2014

Concurrent Non-Ketotic Hyperglycinemia And Propionic Acidemia In An Eight Year Old Boy, Paul Kruszka, Brian Kirmse, Dina Zand, Kristina Cusmano-Ozog, Elaine Spector, John Hove, Kimberly A. Chapman

Pathology Faculty Publications

This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been placed on ketogenic diet, he became lethargic and had severe metabolic acidosis with ketonuria. Urine organic acid analysis and plasma acylcarnitine profile were consistent with propionic acidemia. He was found to have an apparently homozygous mutation in the PCCB gene: c.49C …


Clinical And Laboratory Features Distinguishing Juvenile Polymyositis And Muscular Dystrophy, Gulnara Mamyrova, James D. Katz, Robert V. Jones, Ira N. Targoff, Peter A. Lachenbruch, Olcay Y. Jones, Frederick W. Miller, Lisa G. Rider Dec 2013

Clinical And Laboratory Features Distinguishing Juvenile Polymyositis And Muscular Dystrophy, Gulnara Mamyrova, James D. Katz, Robert V. Jones, Ira N. Targoff, Peter A. Lachenbruch, Olcay Y. Jones, Frederick W. Miller, Lisa G. Rider

Pathology Faculty Publications

OBJECTIVE:

To differentiate juvenile polymyositis (PM) and muscular dystrophy, both of which may present with chronic muscle weakness and inflammation.

METHODS:

We studied 39 patients with probable or definite juvenile PM and 9 patients with muscular dystrophies who were initially misdiagnosed as having juvenile PM. Differences in demographic, clinical, and laboratory results; outcomes; and treatment responses were evaluated by Fisher's exact and rank sum tests. Random forests classification analysis and logistic regression were performed to examine significant differences in multivariable models.

RESULTS:

Clinical features and serum muscle enzyme levels were similar between juvenile PM and dystrophy patients, except 89% of …


Role Of Deregulated Micrornas In Breast Cancer Progression Using Ffpe Tissue, Liang Chen, Youhuai Li, Yebo Fu, Jin Peng, Meng-Hsuan Mo, Michael Stamatakos, Christine B. Teal, Rachel F. Brem, Alexander Stojadinovic, Michael Grinkemeyer, Timothy A. Mccaffrey, Yan-Gao Man, Sidney W. Fu Jan 2013

Role Of Deregulated Micrornas In Breast Cancer Progression Using Ffpe Tissue, Liang Chen, Youhuai Li, Yebo Fu, Jin Peng, Meng-Hsuan Mo, Michael Stamatakos, Christine B. Teal, Rachel F. Brem, Alexander Stojadinovic, Michael Grinkemeyer, Timothy A. Mccaffrey, Yan-Gao Man, Sidney W. Fu

Pathology Faculty Publications

MicroRNAs (miRNAs) contribute to cancer initiation and progression by silencing the expression of their target genes, causing either mRNA molecule degradation or translational inhibition. Intraductal epithelial proliferations of the breast are histologically and clinically classified into normal, atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (IDC). To better understand the progression of ductal breast cancer development, we attempt to identify deregulated miRNAs in this process using Formalin-Fixed, Paraffin-Embedded (FFPE) tissues from breast cancer patients. Following tissue microdissection, we obtained 8 normal, 4 ADH, 6 DCIS and 7 IDC samples, which were subject to RNA isolation …