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Application Of Informatics Tools To Facilitate The Practice Of Precision Medicine With Genomic Testing And Clinical Data, Michael Sayer 2023 Chapman University

Application Of Informatics Tools To Facilitate The Practice Of Precision Medicine With Genomic Testing And Clinical Data, Michael Sayer

Pharmaceutical Sciences (PhD) Dissertations

The practice of precision medicine considers a variety of sources of information to optimize patient care. Factors such as patient demographics, clinical history, and lab test values have well understood effects on treatment outcomes and influence decision making. However, effective inclusion of biomolecular data such as protein expression and DNA sequencing data within the practice of precision medicine needs continued study. Informatics tools offer solutions to allow these complex data sources to be effectively embraced. Utilization of informatics tools to visualize data pertaining to the gene selection practices of pharmacogenomic (PGx) tests effectively communicated large amounts of information into concise …


Improving Dose-Response Correlations For Locally Advanced Nsclc Patients Treated With Imrt Or Pspt, Yulun He 2023 The Texas Medical Center Library

Improving Dose-Response Correlations For Locally Advanced Nsclc Patients Treated With Imrt Or Pspt, Yulun He

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

The standard of care for locally advanced non-small cell lung cancer (NSCLC) is concurrent chemo-radiotherapy. Despite recent advancements in radiation delivery methods, the median survival time of NSCLC patients remains below 28 months. Higher tumor dose has been found to increase survival but also a higher rate of radiation pneumonitis (RP) that affects breathing capability. In fear of such toxicity, less-aggressive treatment plans are often clinically preferred, leading to metastasis and recurrence. Therefore, accurate RP prediction is crucial to ensure tumor coverage to improve treatment outcome. Current models have associated RP with increased dose but with limited accuracy as they …


An Occupational Therapy Approach To Play For Pediatric Cancer Patients, Michelle Erika Dytan, Karen Park 2023 University of St. Augustine for Health Sciences

An Occupational Therapy Approach To Play For Pediatric Cancer Patients, Michelle Erika Dytan, Karen Park

Spring 2023 Virtual OTD Capstone Symposium

Play as an occupation has been long identified as a primary aspect of a child’s life (Moore & Lynch, 2017). Play provides children with ways to explore the world while learning skills to improve critical thinking, creativity, and positive self-esteem, and simply to have fun (Guirguis, 2018; Yanof, 2019). Children with cancer face barriers that limit their ability to engage in play, with negative consequences to their social, cognitive, and emotional development (Nijhof et al., 2018). There is an evident gap in a lack of play opportunities in community-based settings, which may limit a child’s personal development, social skills, and …


Piloting An Oral History Approach To Investigate Cancer Perspectives Among Residents Of Appalachian Kentucky, Courtney Martin, Lauren Hudson, Nathan L. Vanderford 2023 Markey Cancer Center, University of Kentucky,

Piloting An Oral History Approach To Investigate Cancer Perspectives Among Residents Of Appalachian Kentucky, Courtney Martin, Lauren Hudson, Nathan L. Vanderford

Journal of Appalachian Health

Introduction: Kentucky ranks first in the U.S. in overall cancer incidence and mortality rates. Areas of the state that fall within the Appalachian Region, along Kentucky’s eastern border, experience disproportionately high rates of cancer compared to non-Appalachian counties.

Purpose: This pilot study investigates whether oral history interviews can be used to understand perspectives on cancer among residents of Appalachian Kentucky.

Methods: In 2020, participants (n = 5) who identified as being from and/or having strong connections to Appalachian Kentucky were recruited to participate in this pilot study. Participants included individuals working in cancer-related fields, oncology professionals, and those with personal …


Perspectives Of People With Cancer Or Hereditary Cancer Risk On The Use And Value Of Online Peer Support, Jill Holdren, Karl Surkan, Andrea Downing 2023 The Light Collective

Perspectives Of People With Cancer Or Hereditary Cancer Risk On The Use And Value Of Online Peer Support, Jill Holdren, Karl Surkan, Andrea Downing

Journal of Patient-Centered Research and Reviews

Purpose: People with cancer routinely seek information and support in peer groups online. While peer communities constitute a major component of the health care landscape, they exist in isolation from clinical and research institutions. This study aimed to explore how and why cancer patients utilize online peer support groups and how they might be improved.

Methods: A convenience sample of members of 6 closed Facebook cancer peer support groups (n = 291) participated in an online needs assessment survey. We further conducted semi-structured interviews with 14 members and 6 moderator-patients, hand-coding the free-text responses and interview transcripts.

Results: Group …


Met Alterations Are Associated With Osimertinib Resistance In Egfr Mutant Lung Cancers, A Meta-Analysis, Annie Le, Marissa Viola, Jun Wang 2023 Lincoln Memorial University

Met Alterations Are Associated With Osimertinib Resistance In Egfr Mutant Lung Cancers, A Meta-Analysis, Annie Le, Marissa Viola, Jun Wang

Research Day

Osimertinib is a third-generation tyrosine kinase inhibitor (TKI) that has been used to treat EGFR mutant lung cancers, especially those with EGFR T790M mutation. Resistance to osimertinib is likely associated with acquired genetic alterations in these cancer cells. Mesenchymal epithelial transition (MET) is a tyrosine kinase and its amplification is frequently seen in osimertinib resistant patients. To investigate whether the presence of MET alteration is associated with osimertinib resistance, a meta-analysis was conducted using published observations of EGFR mutant lung cancer patients treated with osimertinib. Frequencies of MET alterations are variable, ranging from 0-43% in osimertinib resistant patients. MET alteration …


Jak2/Stat5 Pathway Mutation Frequencies In South African Bcr/Abl Negative Mpn Patients, Shires K, Rust A, Harryparsad R, Coburn J, Gopie R 2023 Division of Haematology, Department of Pathology, Faculty of Health Science, University of Cape Town

Jak2/Stat5 Pathway Mutation Frequencies In South African Bcr/Abl Negative Mpn Patients, Shires K, Rust A, Harryparsad R, Coburn J, Gopie R

Hematology/Oncology and Stem Cell Therapy

Background: Mutations in JAK2/STAT5 proliferation pathway genes are key in the diagnosis of myeloproliferative neoplasms (MPNBCR/ABLneg), with JAK2V617F being found in 50-97% of MPNBCR/ABLneg subtypes. Low JAK2V617F positivity at our facility suggested that our South African MPNBCR/ABLneg population may have a different mutational landscape. Objectives: We aimed to determine the JAK2/STAT5 mutation frequencies associated with our local MPNBCR/ABLneg population, thus determining the relevance of these molecular tests in this group. We also investigated the haematopathological relevance of each test request, to assess testing practises. Method: This study involved the retrospective audit of 886 patients for whom JAK2V617F mutation testing had …


Acquired Amegakaryocytic Thrombocytopenic Purpura: A Review Of Therapeutic Options, Syed Ather Hussain, Aneeqa Zafar, Hafsa Faisal, Mohammad Ammad Ud Din 2023 Department of Internal Medicine, Rochester General Hospital, Rochester, New York

Acquired Amegakaryocytic Thrombocytopenic Purpura: A Review Of Therapeutic Options, Syed Ather Hussain, Aneeqa Zafar, Hafsa Faisal, Mohammad Ammad Ud Din

Hematology/Oncology and Stem Cell Therapy

Acquired amegakaryocytic thrombocytopenic purpura (AATP) is a rare bone marrow disorder characterized by either a marked decrease or a complete absence of megakaryocytes with preservation of all other cell lines. More than 60 cases of AATP have been reported in literature thus far. Due to the rarity of this disease, no standard treatment guidelines have been established and therapy is based on a handful of case studies and expert opinion. Herein, we provide a comprehensive review on currently utilized therapeutic options for AATP.


Phage Peptide Technology To Characterize Extracellular Vesicles In The Brain Tumors, jadelynn rudolf 2023 Mississippi University for Women

Phage Peptide Technology To Characterize Extracellular Vesicles In The Brain Tumors, Jadelynn Rudolf

Undergraduate Research Conference

Extracellular vesicles (EV) are lipid-bound containers derived from the endosomal membrane network or from the extracellular membrane of cells. They can carry proteins, lipids, miRNAs, and other molecules, and may be involved in intercellular communication via membrane-associated proteins. Glioblastomas (GBM) are aggressive cancers of the brain and spinal cord derived from astrocytes. Extracellular vesicles derived from glioblastomas can make their way through the blood brain barrier and find their way to different bodily fluids, and so could serve as biomarkers for this cancer. We have isolated phage-display peptides from a commercial library of random phage-displayed peptides that will bind glioblastoma …


Protocol And Biomarker Strategy For A Multi-Site Randomized Controlled Trial Examining Biological Mechanisms And Dosing Of Active Music Engagement In Children With Acute Lymphoblastic Leukemia And Lymphoma And Parents., Sheri L. Robb, Kristen A. Russ, Steven J. Holochwost, Kristin Stegenga, Susan M. Perkins, Seethal A. Jacob, Amanda K. Henley, Jessica A. MacLean 2023 Children's Mercy Hospital

Protocol And Biomarker Strategy For A Multi-Site Randomized Controlled Trial Examining Biological Mechanisms And Dosing Of Active Music Engagement In Children With Acute Lymphoblastic Leukemia And Lymphoma And Parents., Sheri L. Robb, Kristen A. Russ, Steven J. Holochwost, Kristin Stegenga, Susan M. Perkins, Seethal A. Jacob, Amanda K. Henley, Jessica A. Maclean

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Music therapy is a standard palliative care service in many pediatric and adult hospitals; however, most research has focused on the use of music to improve psychosocial dimensions of health, without considering biological dimensions. This study builds on prior work examining psychosocial mechanisms of action underlying an Active Music Engagement (AME) intervention, designed to help manage emotional distress and improve positive health outcomes in young children with cancer and parents (caregivers), by examining its effects on biomarkers of stress and immune function.

METHODS: This two-group randomized controlled trial (R01NR019190) is designed to examine biological mechanisms of effect and dose-response …


Delay In Diagnosis Of Pd-1 Inhibitor Induced Secondary Adrenal Insufficiency, Olubunmi Oladunjoye, Ibiyemi Oke, Ian Garrahy, Adeolu O. Oladunjoye, Kyle Macaulay, Jeremy Ellis 2023 Section of General Internal Medicine, Baylor College of Medicine, Houston, TX

Delay In Diagnosis Of Pd-1 Inhibitor Induced Secondary Adrenal Insufficiency, Olubunmi Oladunjoye, Ibiyemi Oke, Ian Garrahy, Adeolu O. Oladunjoye, Kyle Macaulay, Jeremy Ellis

Transformative Medicine (T-Med)

Introduction: Immune checkpoint inhibitors including PD-1 inhibitors, were initially approved for the treatment of metastatic melanoma but are now increasingly being used for different types of solid organ malignancies. Despite the important clinical benefits, they are associated with immune-related adverse events. The most critical endocrinopathy associated with PD -1 inhibitor is adrenal insufficiency (AI), which requires prompt diagnosis and management to avoid fatality.

Case presentation: We present the case of a 78-year-old woman with colon adenocarcinoma treated with Nivolumab (PD-1 inhibitor) after her pulmonary metastases progressed on chemotherapy. She presented to the hospital with progressive generalized weakness, fatigue, headache, lightheadedness, …


Hemangioblastoma With Late Leptomeningeal Metastasis: A Case Report, Spencer J. Poiset, Aneesh Reddy, Catherine M. Tucker, Lawrence C. Kenyon, Kevin D. Judy, Wenyin Shi 2023 Thomas Jefferson University

Hemangioblastoma With Late Leptomeningeal Metastasis: A Case Report, Spencer J. Poiset, Aneesh Reddy, Catherine M. Tucker, Lawrence C. Kenyon, Kevin D. Judy, Wenyin Shi

Department of Radiation Oncology Faculty Papers

BACKGROUND: Hemangioblastoma of the central nervous system is an uncommon benign neoplasm, with about 25% of cases in patients with von Hippel-Lindau disease. The incidence of metastasis is rare, particularly in patients without von Hippel-Lindau disease. We report a case of hemangioblastoma with leptomeningeal dissemination as a late recurrence.

CASE PRESENTATION: A 65-year-old Caucasian man with a history of World Health Organization grade I hemangioblastoma of the cerebellar vermis underwent gross total resection in 1997. In early 2018, he developed intracranial recurrences with diffuse leptomeningeal disease of the entire spine. The patient underwent resection of intracranial recurrence, followed by palliative …


Three-Year Update Of Tisagenlecleucel In Pediatric And Young Adult Patients With Relapsed/Refractory Acute Lymphoblastic Leukemia In The Eliana Trial., Theodore W. Laetsch, Shannon L. Maude, Susana Rives, Hidefumi Hiramatsu, Henrique Bittencourt, Peter Bader, André Baruchel, Michael Boyer, Barbara De Moerloose, Muna Qayed, Jochen Buechner, Michael A. Pulsipher, Douglas Myers, Heather E. Stefanski, Paul L. Martin, Eneida Nemecek, Christina Peters, Gregory Yanik, Seong Lin Khaw, Kara L. Davis, Joerg Krueger, Adriana Balduzzi, Nicolas Boissel, Ranjan Tiwari, Darragh O'Donovan, Stephan A. Grupp 2023 Children's Mercy Hospital

Three-Year Update Of Tisagenlecleucel In Pediatric And Young Adult Patients With Relapsed/Refractory Acute Lymphoblastic Leukemia In The Eliana Trial., Theodore W. Laetsch, Shannon L. Maude, Susana Rives, Hidefumi Hiramatsu, Henrique Bittencourt, Peter Bader, André Baruchel, Michael Boyer, Barbara De Moerloose, Muna Qayed, Jochen Buechner, Michael A. Pulsipher, Douglas Myers, Heather E. Stefanski, Paul L. Martin, Eneida Nemecek, Christina Peters, Gregory Yanik, Seong Lin Khaw, Kara L. Davis, Joerg Krueger, Adriana Balduzzi, Nicolas Boissel, Ranjan Tiwari, Darragh O'Donovan, Stephan A. Grupp

Manuscripts, Articles, Book Chapters and Other Papers

In the primary analysis of the global phase II ELIANA trial (ClinicalTrials.gov identifier: NCT02435849), tisagenlecleucel provided an overall remission rate of 81% in pediatric and young adult patients with relapsed or refractory B-cell acute lymphoblastic leukemia (R/R B-ALL), with 59% of responders remaining relapse-free at 12 months. Here, we report an update on efficacy, safety, and patient-reported quality of life in 79 pediatric and young adult patients with R/R B-ALL following a median follow-up of 38.8 months. The overall remission rate was 82%. The median event-free survival was 24 months, and the median overall survival was not reached. Event-free …


Juvenile Granulosa Cell Tumor In An Adult Woman During Pregnancy: A Case Report And Review Of The Literature, Mackenzie Cummings, Pamela Edmonds, Mark S. Shahin, Joe I. Sorosky 2023 Abington Hospital

Juvenile Granulosa Cell Tumor In An Adult Woman During Pregnancy: A Case Report And Review Of The Literature, Mackenzie Cummings, Pamela Edmonds, Mark S. Shahin, Joe I. Sorosky

Abington Jefferson Health Papers

Objective

To report a case of stage IIIB juvenile granulosa cell tumor (JGCT) complicating pregnancy in a 33 year-old (y.o.) woman.

Methods

Retrospective review of the clinical data, imaging studies, and pathology reports of a case of JGCT diagnosed during pregnancy. Patient consent was obtained for review and presentation of the case. A literature review was conducted.

Results

A 33 y.o., gravida 3, para 1 was incidentally found to have an 8 cm left ovarian mass on an anatomy scan at 22 weeks gestation. Four days later, she presented to labor and delivery triage with abdominal pain. An ultrasound revealed …


Arrhythmogenic Cardiotoxicity Associated With Contemporary Treatments Of Lymphoproliferative Disorders, Saadia Sherazi, Susan Schleede, Scott McNitt, Carla Casulo, Jeremiah E. Moore, Eugene Storozynsky, Arpan Patel, Neelima Vidula, Mehmet K. Aktas, Clive S. Zent, Ilan Goldenberg 2023 University of Rochester

Arrhythmogenic Cardiotoxicity Associated With Contemporary Treatments Of Lymphoproliferative Disorders, Saadia Sherazi, Susan Schleede, Scott Mcnitt, Carla Casulo, Jeremiah E. Moore, Eugene Storozynsky, Arpan Patel, Neelima Vidula, Mehmet K. Aktas, Clive S. Zent, Ilan Goldenberg

Division of Cardiology Faculty Papers

Background

There are limited data on risk of arrhythmias among patients with lymphoproliferative disorders. We designed this study to determine the risk of atrial and ventricular arrhythmia during treatment of lymphoma in a real‐world setting.

Methods and Results

The study population comprised 2064 patients included in the University of Rochester Medical Center Lymphoma Database from January 2013 to August 2019. Cardiac arrhythmias—atrial fibrillation/flutter, supraventricular tachycardia, ventricular arrhythmia, and bradyarrhythmia—were identified using International Classification of Diseases, Tenth Revision (ICD‐10) codes. Multivariate Cox regression analysis was used to assess the risk of arrhythmic events with treatments categorized as Bruton tyrosine …


Development Of An Equitable, Interprofessional Medical Cannabis Education, Certification And Research Program In An Nci-Designated Cancer Center, Gregory Garber, MSW, Jillian Van Sciver, MBA, Denise Young, MSW, Latrisha Bentch, BA, Bracken Babula, MD, Brooke Worster, MD 2023 Thomas Jefferson University

Development Of An Equitable, Interprofessional Medical Cannabis Education, Certification And Research Program In An Nci-Designated Cancer Center, Gregory Garber, Msw, Jillian Van Sciver, Mba, Denise Young, Msw, Latrisha Bentch, Ba, Bracken Babula, Md, Brooke Worster, Md

Department of Medical Oncology Posters

Background: Medical cannabis (MC), state-regulated cannabis programs accessible with a physician certification for a qualifying diagnosis, now exist in 47 states. Little attention has been paid to ensuring equitable access to such programs for the most vulnerable cancer patients.1 Estimates of cannabis use in cancer patients range from 30-40%2 yet access to MC is highly dependent on a number of variables including: geography, cost, availability of certifying providers, lack of provider education and a confusing array of state programs coupled with ongoing federal illegality. The historic criminalization of cannabis and the disproportionate impact on People of Color creates another …


Colon Adenocarcinoma And Birt-Hogg-Dubé Syndrome In A Young Patient: Case Report And Exploration Of Pathologic Implications, Grant W. Jirka, Daniel S. Lefler, Jessica Russo, Babar Bashir 2023 Thomas Jefferson University

Colon Adenocarcinoma And Birt-Hogg-Dubé Syndrome In A Young Patient: Case Report And Exploration Of Pathologic Implications, Grant W. Jirka, Daniel S. Lefler, Jessica Russo, Babar Bashir

Department of Medical Oncology Faculty Papers

Birt–Hogg–Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN) that result in the functional loss of the tumor suppressor folliculin. It is classically associated with cutaneous hamartomas, pulmonary cysts with spontaneous pneumothorax, and various renal cancers. In this case, we present a patient initially diagnosed with chromophobe renal cell carcinoma and subsequently found to have colorectal cancer (CRC). The presence of two separate malignancies in a young patient with a strong family history of CRC (father and paternal grandfather) led to genetic testing, which revealed an FLCN c.1177–5_1177-3del mutation, and a diagnosis …


Psychosocial Needs Of Pediatric Patients With Cancer Predisposition Syndromes: Standardized Screening Needed, Meredith Ehrhardt, Mirae Fornander, Rachel Moore 2023 Children's Mercy Kansas City

Psychosocial Needs Of Pediatric Patients With Cancer Predisposition Syndromes: Standardized Screening Needed, Meredith Ehrhardt, Mirae Fornander, Rachel Moore

Posters

Introduction Cancer predisposition syndromes (CPS; e.g., Li-Fraumeni syndrome, Von Hippel-Lindau syndrome) require routine, standardized medical monitoring with accompanying unique, complex psychosocial needs (e.g., family medical needs). Despite limited research within pediatric populations, emerging literature has begun to support the benefit of routine psychosocial screening in this population. Very few pediatric CPS clinics with dedicated psychosocial care (i.e., psychology) exist in the U.S. and there is currently no standard of care for psychosocial support of CPS patients. This study aims to better understand the psychosocial needs of pediatric CPS patients and support the need for a standardized psychosocial screening protocol among …


Juvenile-Type Granulosa Cell Tumor In Pregnancy Presenting As A Ruptured Abdominal Mass, Odinaka Mogor, Steven Feinstein, Glen Friedman, Jose Salvador Saldivar, Melissa Mendez 2023 Las Palmas Medical Center

Juvenile-Type Granulosa Cell Tumor In Pregnancy Presenting As A Ruptured Abdominal Mass, Odinaka Mogor, Steven Feinstein, Glen Friedman, Jose Salvador Saldivar, Melissa Mendez

HCA Healthcare Journal of Medicine

Introduction

Granulosa cell tumors (GCTs) are part of the sex cord-stromal tumors occurring with a rare incidence rate that only makes up about 2-5% of all ovarian malignancies.

Case Presentation

A 28-year-old woman, gravida 2, para 1, presented with a juvenile-type granulosa cell tumor at 31 weeks gestation, which appeared as a rapidly growing mass with rupture. She underwent an exploratory laparotomy with unilateral salpingo-oophorectomy, and consequently had a successful vaginal delivery. Post-operatively she was treated with paclitaxel and carboplatin chemotherapy regimen with no evidence of recurrence after one year.

Conclusion

Radical surgical management is recommended for these tumors due …


Higher Doses Of Tisagenlecleucel Are Associated With Improved Outcomes: A Report From The Pediatric Real-World Car Consortium., Heather E. Stefanski, Anne Eaton, Christina Baggott, Jenna Rossoff, Michael R. Verneris, Snehit Prabhu, Holly L. Pacenta, Christine L. Phillips, Julie-An Talano, Amy Moskop, Steven P. Margossian, Douglas Myers, Nicole A. Karras, Patrick A. Brown, Muna Qayed, Michelle Hermiston, Prakash Satwani, M Christa Krupski, Amy K. Keating, Rachel Wilcox, Cara A. Rabik, Vanessa A. Fabrizio, Vasant Chinnabhandar, A Yasemin Goksenin, Kevin J. Curran, Crystal L. Mackall, Theodore W. Laetsch, Liora M. Schultz 2023 Children's Mercy Hospital

Higher Doses Of Tisagenlecleucel Are Associated With Improved Outcomes: A Report From The Pediatric Real-World Car Consortium., Heather E. Stefanski, Anne Eaton, Christina Baggott, Jenna Rossoff, Michael R. Verneris, Snehit Prabhu, Holly L. Pacenta, Christine L. Phillips, Julie-An Talano, Amy Moskop, Steven P. Margossian, Douglas Myers, Nicole A. Karras, Patrick A. Brown, Muna Qayed, Michelle Hermiston, Prakash Satwani, M Christa Krupski, Amy K. Keating, Rachel Wilcox, Cara A. Rabik, Vanessa A. Fabrizio, Vasant Chinnabhandar, A Yasemin Goksenin, Kevin J. Curran, Crystal L. Mackall, Theodore W. Laetsch, Liora M. Schultz

Manuscripts, Articles, Book Chapters and Other Papers

Remarkable complete response rates have been shown with tisagenlecleucel, a chimeric antigen receptor (CAR) T-cell therapy targeting CD19, in patients up to age 26 years with refractory/relapsed B-cell acute lymphoblastic leukemia; it is US Food and Drug Administration approved for this indication. Currently, patients receive a single dose of tisagenlecleucel across a wide dose range of 0.2 to 5.0 × 106 and 0.1 to 2.5 × 108 CAR T cells per kg for patients ≤50 and >50 kg, respectively. The effect of cell dose on survival and remission is not yet well established. Our primary goal was to determine if …


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