Medical Specialties Commons^™

A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa Mullins, Abigail Russell, Chad Johnston

HCA Healthcare Journal of Medicine

Simpson-Golabi-Behmel syndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmel syndrome have been described, and this case highlights that there may be an association between mutated GPC3 carrier status and other cancers. We present a case of GPC3 gene mutation suggestive …

Large-Scale Characterization Of Drug Responses Of Clinically Relevant Proteins In Cancer Cell Lines, Wei Zhao, Jun Li, Mei-Ju M Chen, Yikai Luo, Zhenlin Ju, Nicole K Nesser, Katie Johnson-Camacho, Christopher T Boniface, Yancey Lawrence, Nupur T Pande, Michael A Davies, Meenhard Herlyn, Taru Muranen, Ioannis K Zervantonakis, Erika Von Euw, Andre Schultz, Shwetha V Kumar, Anil Korkut, Paul T Spellman, Rehan Akbani, Dennis J Slamon, Joe W Gray, Joan S Brugge, Yiling Lu, Gordon B Mills, Han Liang

Faculty, Staff and Students Publications

Perturbation biology is a powerful approach to modeling quantitative cellular behaviors and understanding detailed disease mechanisms. However, large-scale protein response resources of cancer cell lines to perturbations are not available, resulting in a critical knowledge gap. Here we generated and compiled perturbed expression profiles of ∼210 clinically relevant proteins in >12,000 cancer cell line samples in response to ∼170 drug compounds using reverse-phase protein arrays. We show that integrating perturbed protein response signals provides mechanistic insights into drug resistance, increases the predictive power for drug sensitivity, and helps identify effective drug combinations. We build a systematic map of "protein-drug" connectivity …

Survival Benefit For Individuals With Constitutional Mismatch Repair Deficiency Syndrome And Brain Tumors Who Undergo Surveillance Protocol. A Report From The International Replication Repair Consortium, Ayse Bahar Ercan, Carol Durno, Vanessa J. Bianchi, Melissa Edwards, Melyssa Aronson, Eric Bouffet, Abeer Al-Battashi, Musa Alharbi, Donald Basel, Elizabeth Cairney

Paediatrics Publications

BACKGROUND

Constitutional mismatch repair deficiency syndrome (CMMRD) is a severe cancer predisposition syndrome resulting in early onset central nervous system (CNS) and other cancers. International guidelines for surveillance exist but no study has systematically evaluated the efficacy of this protocol. METHODS

We surveyed all confirmed CMMRD patients in the International Replication Repair Deficiency Consortium. A surveillance protocol consisting of frequent biochemical, endoscopic and imaging (CNS and total body MRI) studies were employed. Survival analyses and efficacy of each method were assessed. RESULTS

Surveillance data were collected from 105 CMMRD individuals from 41 countries. Of the 193 malignant tumors, CNS malignancies …

The Cancer Patient And Cardiology, José Luis Zamorano, Christer Gottfridsson, Riccardo Asteggiano, Dan Atar, Lina Badimon, Jeroen J Bax, Daniela Cardinale, Antonella Cardone, Elizabeth A M Feijen, Péter Ferdinandy, Teresa López-Fernández, Chris P Gale, John H Maduro, Javid Moslehi, Torbjørn Omland, Juan Carlos Plana Gomez, Jessica Scott, Thomas M Suter, Giorgio Minotti

Faculty, Staff and Students Publications

Advances in cancer treatments have improved clinical outcomes, leading to an increasing population of cancer survivors. However, this success is associated with high rates of short- and long-term cardiovascular (CV) toxicities. The number and variety of cancer drugs and CV toxicity types make long-term care a complex undertaking. This requires a multidisciplinary approach that includes expertise in oncology, cardiology and other related specialties, and has led to the development of the cardio-oncology subspecialty. This paper aims to provide an overview of the main adverse events, risk assessment and risk mitigation strategies, early diagnosis, medical and complementary strategies for prevention and …

Research Amidst The Pandemic, Howard Burris

HCA Healthcare Journal of Medicine

Cancer patients need access to promising investigational therapies, available only through clinical trials, and the emergence of COVID-19 and the resulting pandemic became an emerging threat to fulfilling that need. Many academic medical centers were pausing their clinical research programs, diverting their resources and sheltering their teams. Sarah Cannon, the Cancer Institute of HCA Healthcare, made the decision to stay safe, but stay the course.

Tumor Somatic Mutations Also Existing As Germline Polymorphisms May Help To Identify Functional Snps From Genome-Wide Association Studies, Ivan P Gorlov, Xiangjun Xia, Spiridon Tsavachidis, Olga Y Gorlova, Christopher I Amos

Faculty, Staff and Students Publications

We hypothesized that a joint analysis of cancer risk-associated single-nucleotide polymorphism (SNP) and somatic mutations in tumor samples can predict functional and potentially causal SNPs from GWASs. We used mutations reported in the Catalog of Somatic Mutations in Cancer (COSMIC). Confirmed somatic mutations were subdivided into two groups: (1) mutations reported as SNPs, which we call mutational/SNPs and (2) somatic mutations that are not reported as SNPs, which we call mutational/noSNPs. It is generally accepted that the number of times a somatic mutation is reported in COSMIC correlates with its selective advantage to tumors, with more frequently reported mutations being …

The Srg Rat, A Sprague-Dawley Rag2/Il2rg Double-Knockout Validated For Human Tumor Oncology Studies, Fallon K. Noto, Jaya Sangodkar, Bisoye Towobola Adedeji, Sam Moody, Christopher B. Mcclain, Ming Tong, Eric Ostertag, Jack Crawford, Xiaohua Gao, Lauren Hurst, Caitlin M. O'Connor, Erika N. Hanson, Sudeh Izadmehr, Rita Tohmé, Jyothsna Narla, Kristin Lesueur, Kajari Bhattacharya, Amit Rupani, Marwan K. Tayeh, Jeffrey W. Innis, Matthew D. Galsky, B. Mark Evers, Analisa Difeo, Goutham Narla, Tseten Y. Jamling

Markey Cancer Center Faculty Publications

We have created the immunodeficient SRG rat, a Sprague-Dawley Rag2/Il2rg double knockout that lacks mature B cells, T cells, and circulating NK cells. This model has been tested and validated for use in oncology (SRG OncoRat®). The SRG rat demonstrates efficient tumor take rates and growth kinetics with different human cancer cell lines and PDXs. Although multiple immunodeficient rodent strains are available, some important human cancer cell lines exhibit poor tumor growth and high variability in those models. The VCaP prostate cancer model is one such cell line that engrafts unreliably and grows irregularly in …

Anesthetic Drugs And Cancer Progression, Juan P Cata, Anil K Sood, Holger K Eltzschig

Faculty, Staff and Student Publications

No abstract provided.

Investigation Of A Peculiar Case Of Childhood Lymphadenopathy, Chade Aribo, Alonso Al, Allison Woodall, Tommy Y. Kim

HCA Healthcare Journal of Medicine

Introduction: Lymphadenopathy is a common physical finding often associated with an infectious etiology. We present a case of a patient with generalized cervical and supraclavicular lymphadenopathy diagnosed with a rare malignancy. Health care providers should be aware of some uncommon historical or physical examination findings that warrant further investigation.

Clinical Findings: A 16-year-old female presented to the emergency department with 3 days of a fever, congestion and sore throat with swelling around the jaw. Her physical examination findings included bilateral mandibular swelling and generalized cervical lymphadenopathy with palpable supraclavicular lymph nodes.

Outcomes: Complete blood count showed pancytopenia with a white …

Health Insurance Coverage Disruptions And Cancer Care And Outcomes: Systematic Review Of Published Research, K Robin Yabroff, Katherine Reeder-Hayes, Jingxuan Zhao, Michael T Halpern, Ana Maria Lopez, Leon Bernal-Mizrachi, Anderson B Collier, Joan Neuner, Jonathan Phillips, William Blackstock, Manali Patel

Kimmel Cancer Center Faculty Papers

BACKGROUND: Lack of health insurance coverage is associated with poor access and receipt of cancer care and survival in the United States. Disruptions in coverage are common among low-income populations, but little is known about associations of disruptions with cancer care, including prevention, screening, and treatment, as well as outcomes of stage at diagnosis and survival.

METHODS: We conducted a systematic review of studies of health insurance coverage disruptions and cancer care and outcomes published between 1980 and 2019. We used the PubMed, EMBASE, Scopus, and CINAHL databases and identified 29 observational studies. Study characteristics and key findings were abstracted …

Proteolysis-Targeting Chimera (Protac) For Targeted Protein Degradation And Cancer Therapy, Xin Li, Yongcheng Song

Faculty, Staff and Students Publications

Proteolysis-targeting chimera (PROTAC) has been developed to be a useful technology for targeted protein degradation. A bifunctional PROTAC molecule consists of a ligand (mostly small-molecule inhibitor) of the protein of interest (POI) and a covalently linked ligand of an E3 ubiquitin ligase (E3). Upon binding to the POI, the PROTAC can recruit E3 for POI ubiquitination, which is subjected to proteasome-mediated degradation. PROTAC complements nucleic acid-based gene knockdown/out technologies for targeted protein reduction and could mimic pharmacological protein inhibition. To date, PROTACs targeting ~ 50 proteins, many of which are clinically validated drug targets, have been successfully developed with several …

A Rare Case Of Primary Cutaneous Mucoepidermoid Carcinoma, Hassie Cooper, Maheera Farsi, Richard Miller, Pay Kamrani, Dudith Pierre Victor

West Florida Division GME Research Day 2020

Mucoepidermoid carcinoma (MEC) is a well-documented malignant tumor commonly found in the salivary glands. Cutaneous involvement is very rare, especially when presenting as a primary cutaneous neoplasm. Gallagher first described primary cutaneous MEC in 1959 and since then, to the best of our knowledge, there have been approximately 20 reports published in the literature. Here we present a very rare case of primary cutaneous mucoepidermoid carcinoma.

Speckle-Tracking Echocardiography In Cardio-Oncology And Beyond, Raymundo A Quintana, Linh P Bui, Rohit Moudgil, Nicolas Palaskas, Saamir Hassan, Jun-Ichi Abe, Elie Mouhayar, Syed Wamique Yusuf, Antonieta Hernandez, Jose Banchs

The Texas Heart Institute Journal

Speckle-tracking echocardiography has enabled clinicians to detect changes in myocardial function with more sensitivity than that afforded by traditional diastolic and systolic functional measurements, including left ventricular ejection fraction. Speckle-tracking echocardiography enables evaluation of myocardial strain in terms of strain (percent change in length of a myocardial segment relative to its length at baseline) and strain rate (strain per unit of time). Both measurements have potential for use in diagnosing and monitoring the cardiovascular side effects of cancer therapy. Regional and global strain measurements can independently predict outcomes not only in patients who experience cardiovascular complications of cancer and cancer …

Pain Squad+ Smartphone App To Support Real-Time Pain Treatment For Adolescents With Cancer: Protocol For A Randomised Controlled Trial., Lindsay Jibb, Paul C Nathan, Vicky Breakey, Conrad Fernandez, Donna Johnston, Victor Lewis, Sarah Mckillop, Serina Patel, Christine Sabapathy, Caron Strahlendorf, J Charles Victor, Myla E Moretti, Cynthia Nguyen, Amos Hundert, Celia Cassiani, Graziella El-Khechen Richandi, Hayley Insull, Rachel Hamilton, Geoffrey Fang, Susan Kuczynski, Jennifer Stinson

Paediatrics Publications

INTRODUCTION: Pain negatively affects the health-related quality of life (HRQL) of adolescents with cancer. The Pain Squad+ smartphone-based application (app), has been developed to provide adolescents with real-time pain self-management support. The app uses a validated pain assessment and personalised pain treatment advice with centralised decision support via a registered nurse to enable real-time pain treatment in all settings. The algorithm informing pain treatment advice is evidence-based and expert-vetted. This trial will longitudinally evaluate the impact of Pain Squad+, with or without the addition of nurse support, on adolescent health and cost outcomes.

METHODS AND ANALYSIS: This will be a …

A Unique Schwannoma Of The Distal Hallux: A Case Study, Rebecca D. Stack Dpm, Brett Sachs Dpm Facfas, Dustin Kruse Dpm, Paul A. Stone Dpm, Facfas

Podiatry

No abstract provided.

Isolated Forefoot Juvenile Xanthogranuloma: Unique Case Study And Treatment In A Pediatric Patient, Brian Derner Dpm, Kristine Hoffman, Amy Storfa Md, Dustin Kruse Dpm, Paul A. Stone Dpm, Facfas

Podiatry

Juvenile xanthogranulomas (JXG) are a benign histiocytic cell proliferative disorder in early childhood. They most commonly present within the first two years of life with papular or nodular changes to the skin on the head, neck or upper trunk. Xanthogranulomas are mostly self-limiting, can be singular or multiple, and rarely can infer a systemic disease process1. The purpose of this study was to publish a unique finding of an extra-tendinous solitary mass in an otherwise healthy 17-year old, with surgical and medical treatment after diagnosis.

A Step Towards Personalizing Next Line Therapy For Resected Pancreatic And Related Cancer Patients: A Single Institution's Experience, Cinthya Y. Lowder, Teena Dhir, Austin B. Goetz, Henry L. Thomsett, Joseph Bender, Talar Tatarian, Subha Madhavan, Emanuel F. Petricoin, Edik Blais, Harish Lavu, Jordan M. Winter, James Posey Iii, Jonathan Brody, Michael J. Pishvaian, Charles J. Yeo

Department of Surgery Faculty Papers

Background: There is a lack of precision medicine in pancreatic ductal adenocarcinoma (PDA) and related cancers, and outcomes for patients with this diagnosis remain poor despite decades of research investigating this disease. Therefore, it is necessary to explore novel therapeutic options for these patients who may benefit from personalized therapies.

Objective: Molecular profiling of hepatopancreaticobiliary malignancies at our institution, including but not limited to PDA, was initiated to assess the feasibility of incorporating molecular profiling results into patient oncological therapy planning.

Methods: All eligible patients from Thomas Jefferson University (TJU) with hepatopancreaticobiliary tumors including PDA, who agreed to molecular testing …

Outcomes Following Percutaneous Coronary Intervention In Patients With Cancer, Raymundo A Quintana, Dominique J Monlezun, Giovanni Davogustto, Humberto R Saenz, Francisco Lozano-Ruiz, Daisuke Sueta, Kenichi Tsujita, Uri Landes, Ali E Denktas, Mahboob Alam, David Paniagua, Daniel Addison, Hani Jneid

Faculty, Staff and Students Publications

BACKGROUND: Randomized clinical trials demonstrated the benefits of percutaneous coronary interventions (PCI) in diverse clinical settings. Patients with cancer were not routinely included in these studies.

METHODS/RESULTS: Literature search of PubMed, Cochrane, Medline, SCOPUS, EMBASE, and ClinicalTrials was conducted to identify studies that assessed one-year all-cause, cardiovascular and non-cardiovascular mortality in patients with historical or active cancer. Using the random effects model, we computed risk ratios (RRs) and standardized mean differences and their 95% confidence intervals for the dichotomous and continuous measures and outcomes, respectively. Of 171 articles evaluated in total, 5 eligible studies were included in this meta-analysis. In …

The Association Between Testicular Cancer And Female Reproductive Cancers: A Systematic Review, Alyssa Church

Honors Undergraduate Theses

The most common neoplasm found in young to middle-aged men is testicular cancer (TCa). This disease not only poses a risk of early death, but can also affect a male's fertility and testosterone levels and can diminish one's mental health and/or quality of life. One particular line of research that is emerging in the field is a possible genetic association of TCa with female reproductive cancers. We employed a systematic review to assess the methodological quality of articles that met the inclusionary criteria. To be selected for this review, articles had to go through a primary, secondary, and tertiary screening …

A Rare Case Of Trichilemmal Carcinoma: Histology And Management, Lisa F. Fronek, Allyson Brahs, Maheera Farsi, Richard Miller

West Florida Division GME Research Day 2020

Trichilemmal carcinoma (TC) is a rare, malignant, adnexal neoplasm that is derived from the outer root sheath (ORS) of the hair follicle. These tumors predominantly occur in elderly patients on sun-exposed areas, specifically on the head and neck with the face defined as the most common location. The mean age of diagnosis is 70 years old with a slight male predominance. These lesions are commonly identified as a papular, nodular, and sometimes, exophytic. They generally arise de-novo, but may also derivate from an underlying proliferating trichilemmal cyst with a loss of p53, a seborrheic keratosis, a nevus sebaceous, or a …

1. President's Office Records, 1941-1998, The University Of Texas Md Anderson Cancer Center

Director's Office Records: Ernst Bertner and R. Lee Clark Archives

The President's Office Records include materials generated and received by the President of the institution, and his staff, during his time in office. The early records also include the materials generated and received by the Director of the institution, and his staff, prior to the time the position of President existed. Additionally, there are records from the President Emeritus office included in the record group.

Bone Metastasis In Appendicular Skeleton: Rare Occurrence In Colorectal Cancer, Pratikkumar Vekaria Md, Chandrika Raiyani Md, Ravis Patel Md, Devin Vaishnani Md, Tejas Raiyani Md

Gastroenterology

Colorectal cancer (CRC) is considered as preventable cancer if diagnosed in the early stage. It is also second leading cause of death from cancer in US. Bone metastases (BM) is uncommon presentation with CRC and if it occurs, it involves axial skeletal more than extremities. Many case studies also reports that survival after BM is considerably poor than without BM. Cancer type and genetic mutations also play an important role in such metastasis.

Choking On Adenocarcinoma, Andre Sahakian Md, Rajesh Gulati Md

Internal Medicine

No abstract provided.

Potential Use Of Dopamine And Dopamine Agonists As Angiogenesis Inhibitors In The Treatment Of Cancer, Benjamin Finley, Katherine Liu, Daniel Powell, Jamie Kellner, David H. Kinder

Pharmacy and Wellness Review

In recent years, there have been numerous developments in monoclonal antibodies used as anticancer drugs with a focus on reducing the ability of cancers to metastasize and produce new vasculature. These agents are called angiogenesis inhibitors and although these agents have been proven effective in treating certain types of cancers, production and administration of monoclonal antibodies comes at a steep cost with a severe side effect profile. Under normal physiologic conditions, angiogenesis is an important mechanism to create new blood vessels from preexisting vessels, usually occurring in adults. Tumor cells can hijack the angiogenesis pathway to produce new distant tumors …

Multiple Sclerosis Outcomes After Cancer Immunotherapy, Catherine R. Garcia, Rani Jayswal, Val R. Adams, Lowell B. Anthony, John L. Villano

Markey Cancer Center Faculty Publications

INTRODUCTION: Neurological immune-related adverse events are a rare but potentially deadly complication after immune checkpoint inhibitor (ICI) treatment. As multiple sclerosis (MS) is an immune-mediated disease, it is unknown how ICI treatment may affect outcomes.

METHODS: We analyzed the United States Food and Drug Administration (FDA) Adverse Event Reporting System (FAERS) database for pembrolizumab, atezolizumab, nivolumab, ipilimumab, avelumab, and durvalumab 2 years prior their FDA approval until December 31, 2017, to include all cases with confirmed diagnosis/relapse of MS. We also included cases reported in the literature and a patient from our institution.

RESULTS: We identified 14 cases of MS …

Cancer Cell Population Growth Kinetics At Low Densities Deviate From The Exponential Growth Model And Suggest An Allee Effect., Kaitlyn E Johnson, Grant Howard, William Mo, Michael K Strasser, Ernesto A B F Lima, Sui Huang, Amy Brock

Articles, Abstracts, and Reports

Most models of cancer cell population expansion assume exponential growth kinetics at low cell densities, with deviations to account for observed slowing of growth rate only at higher densities due to limited resources such as space and nutrients. However, recent preclinical and clinical observations of tumor initiation or recurrence indicate the presence of tumor growth kinetics in which growth rates scale positively with cell numbers. These observations are analogous to the cooperative behavior of species in an ecosystem described by the ecological principle of the Allee effect. In preclinical and clinical models, however, tumor growth data are limited by the …

The Current State Of Molecular Testing In The Treatment Of Patients With Solid Tumors, 2019., Wafik S El-Deiry, Richard M Goldberg, Heinz-Josef Lenz, Anthony F Shields, Geoffrey T Gibney, Antoinette R Tan, Jubilee Brown, Burton Eisenberg, Elisabeth I Heath, Surasak Phuphanich, Edward Kim, Andrew J Brenner, John L Marshall

Articles, Abstracts, and Reports

The world of molecular profiling has undergone revolutionary changes over the last few years as knowledge, technology, and even standard clinical practice have evolved. Broad molecular profiling is now nearly essential for all patients with metastatic solid tumors. New agents have been approved based on molecular testing instead of tumor site of origin. Molecular profiling methodologies have likewise changed such that tests that were performed on patients a few years ago are no longer complete and possibly inaccurate today. As with all rapid change, medical providers can quickly fall behind or struggle to find up-to-date sources to ensure he or …

A Mathematical Investigation On Tumor-Immune Dynamics: The Impact Of Vaccines On The Immune Response, Jonathan Quinonez, Neethi Dasu, Mahboobi Qureshi

Rowan-Virtua Research Day

Mathematical models analyzing tumor-immune interactions provide a framework by which to address specific scenarios in regard to tumor-immune dynamics. Important aspects of tumor-immune surveillance to consider is the elimination of tumor cells from a host’s cell-mediated immunity as well as the implications of vaccines derived from synthetic antigen. In present studies, our mathematical model examined the role of synthetic antigen to the strength of the immune system. The constructed model takes into account accepted knowledge of immune function as well as prior work done by de Pillis et al. All equations describing tumor-immune growth, antigen presentation, immune response, and interaction …

Evaluating The Effectiveness And Implementation Of Evidence-Based Treatment: A Multisite Hybrid Design., Jamile A Ashmore, Kirk W Ditterich, Claire C Conley, Melissa R Wright, Peggy S Howland, Kelly L Huggins, Jena Cooreman, Priscilla S Andrews, Donald R Nicholas, Lind Roberts, Larissa Hewitt, Joan N Scales, Jenny K Delap, Christine A Gray, Lynelle A Tyler, Charlotte Collins, Catherine M Whiting, Brittany M Brothers, Marlena M Ryba, Barbara L Andersen

Articles, Abstracts, and Reports

The gap between treatment development and efficacy testing to scaled up implementations of evidence-based treatment (EBT) is an estimated 20 years, and hybrid research designs aim to reduce the gap. One was used for a multisite study in cancer control, testing coprimary aims: (a) determine the feasibility and utility of a flexible EBT implementation strategy and (b) determine the clinical effectiveness of an EBT as implemented by newly trained providers. Therapists from 15 diverse sites implemented the biobehavioral intervention (BBI) for cancer patients (N = 158) as part of standard care. For implementation, therapists determined treatment format, number of …

Commonly Integrated Epigenetic Modifications Of Differentially Expressed Genes Lead To Adaptive Resistance In Cancer., Abdullah Al Emran, Diego M Marzese, Dinoop R Menon, Heinz Hammerlindl, Farzana Ahmed, Erika Richtig, Pascal Duijf, Dave Hoon, Helmut Schaider

Articles, Abstracts, and Reports

Aim: To investigate the integrated epigenetic regulation of acquired drug resistance in cancer. Materials & methods: Our gene expression data of five induced drug-tolerant cell models, one resistant cell line and one publicly available drug-resistant dataset were integrated to identify common differentially expressed genes and pathways. ChIP-seq and DNA methylation by HM450K beadchip were used to study the epigenetic profile of differential expressed genes. Results & conclusion: Integrated transcriptomic analysis identified a common 'viral mimicry' related gene signature in induced drug-tolerant cells and the resistant state. Analysis of the epigenetic regulation revealed a common set of down-regulated genes, which are …