Medical Genetics Commons^™

Editorial: Women In Molecular And Cellular Oncology, Volume Ii: 2022, Shilpa S Dhar

Faculty, Staff and Student Publications

No abstract provided.

A Case Of Successful Treatment Of Recurrent Urinary Tract Infection By Extended-Spectrum Β-Lactamase Producing Klebsiella Pneumoniae Using Oral Lyophilized Fecal Microbiota Transplant, Naomi Bier, Blake Hanson, Zhi-Dong Jiang, Herbert L Dupont, Cesar A Arias, William R Miller

Faculty, Staff and Student Publications

Recurrent urinary tract infections (UTIs) are a challenging clinical entity that can be frustrating for patient and physician alike. Repeated rounds of antibiotics can select for multidrug-resistant organisms, further complicating care. We describe the successful use of fecal microbiota transplantation (FMT) for the treatment of recurrent extended-spectrum β-lactamase (ESBL)-producing Klebsiella pneumoniae UTIs in a patient with an ileal conduit and urostomy. In the 18 months after FMT, the patient had not experienced new infections with ESBL-producing organisms. The urine and stool microbiomes of the patient were tracked before and post-FMT using 16s RNA sequencing with measurement of α-diversity. Sequencing of …

Editorial: The Interplay Between Microbiota And Allergen In Shaping Respiratory Mucosa Immunity: Role In Development Of Asthma, Zhenwei Xia, Wenwei Zhong, Min Wu, Scott E Evans

Faculty, Staff and Student Publications

No abstract provided.

Epigenetic Aging In Psychiatry: Clinical Implications And Therapeutic Opportunities, Camila N C Lima, Gabriel R Fries

Faculty, Staff and Student Publications

No abstract provided.

Financial Toxicity In Cancer Patients And Subsequent Risk Of Repeat Acute Care Utilization, Julia J Shi, J Alberto Maldonado, Chi-Fang Wu, Susan K Peterson, Ying-Shiuan Chen, Kevin Diao, Robert J Volk, Sharon H Giordano, Ya-Chen T Shih, Kelsey Kaiser, Grace L Smith

Faculty, Staff and Student Publications

Background: Acute care (AC) visits by cancer patients are costly sources of healthcare resources and can exert a financial burden of oncology care both for individuals with cancer and healthcare systems. We sought to identify whether cancer patients who reported more severe initial financial toxicity (FT) burdens shouldered excess risks for acute care utilization.

Methods: In 225 adult patients who participated in the Economic Strain and Resilience in Cancer (ENRICh) survey study of individuals receiving ambulatory cancer care between March and September 2019, we measured the baseline FT (a multidimensional score of 0-10 indicating the least to most severe global, …

Global Research Trends And Prospects Related To Tumor Microenvironment Within Triple Negative Breast Cancer: A Bibliometric Analysis, Peiting Li, Jun Li, Xiaofei Tong, Zhenyang Xiao, Wuliang Diao, Chi Zhong, Jianda Zhou, Wei Wu

Faculty, Staff and Student Publications

Background and aims: The tumor microenvironment (TME) has pivotal parts within multiple tumor models of onset/progression, such as triple-negative breast cancer (TNBC). This bibliometric analysis was developed to explore trends and research niches revolving around TME in TNBC.

Methods: Web of Science Core Collection was queried for identifying studies linked with TME in TNBC, after which the VOSviewer, CiteSpace, and R software programs were used to conduct bibliometric analyses and to generate corresponding visualizations.

Results: In total, this study included 1,604 studies published from 2005-2023. The USA and China exhibited the highest numbers of citations, and the research institutions with …

Within Subject Cross-Tissue Analyzes Of Epigenetic Clocks In Substance Use Disorder Postmortem Brain And Blood, Brenda Cabrera-Mendoza, Laura Stertz, Katherine Najera, Sudhakar Selvaraj, Antonio L Teixeira, Thomas D Meyer, Gabriel R Fries, Consuelo Walss-Bass

Faculty, Staff and Student Publications

There is a possible accelerated biological aging in patients with substance use disorders (SUD). The evaluation of epigenetic clocks, which are accurate estimators of biological aging based on DNA methylation changes, has been limited to blood tissue in patients with SUD. Consequently, the impact of biological aging in the brain of individuals with SUD remains unknown. In this study, we evaluated multiple epigenetic clocks (DNAmAge, DNAmAgeHannum, DNAmAgeSkinBlood, DNAmPhenoAge, DNAmGrimAge, and DNAmTL) in individuals with SUD (n = 42), including alcohol (n = 10), opioid (n = 19), and stimulant use disorder (n = 13), and controls (n = 10) in …

Effects Of Heterozygous Deletion Of Autism-Related Gene Cullin-3 In Mice, Qiang-Qiang Xia, Angela K Walker, Chenghui Song, Jing Wang, Anju Singh, James A Mobley, Zhong X Xuan, Jeffrey D Singer, Craig M Powell

Faculty, Staff and Student Publications

Autism Spectrum Disorder (ASD) is a developmental disorder in which children display repetitive behavior, restricted range of interests, and atypical social interaction and communication. CUL3, coding for a Cullin family scaffold protein mediating assembly of ubiquitin ligase complexes through BTB domain substrate-recruiting adaptors, has been identified as a high-risk gene for autism. Although complete knockout of Cul3 results in embryonic lethality, Cul3 heterozygous mice have reduced CUL3 protein, demonstrate comparable body weight, and display minimal behavioral differences including decreased spatial object recognition memory. In measures of reciprocal social interaction, Cul3 heterozygous mice behaved similarly to their wild-type littermates. In area …

Editorial: Ovarian Cancer-Targeted Medication: Parp Inhibitors, Anti-Angiogenic Drugs, Immunotherapy, And More, Zhi-Bin Wang, Dan Liu, Guang Lei, Zhao-Qian Liu, Nayiyuan Wu, Jing Wang

Faculty, Staff and Student Publications

No abstract provided.

Pseudohypoadrenalism, A Subclinical Cortisol Metabolism Disorder In Hyperuricemia, Ruixia Bao, Beibei Chen, Jujie Pan, Alexander Wang, Haiyang Yu, Qian Chen, Yi Zhang, Tao Wang

Faculty, Staff and Student Publications

Background: Hyperuricemia is a known risk factor of lipid metabolism disorder. However, the mechanisms have not been fully understood.

Methods: The serum samples from hyperuricemia subjects were used to analyze the correlation between serum uric acid and clinical characteristics. Hyperuricemia mice induced by potassium oxonate (PO) and adenine were used to explore glucocorticoid metabolism.

Results: In hyperuricemia patients, the levels of serum uric acid were positively correlated with the levels of γ-glutamyltransferase, associated with a cortisol metabolism disorder. In hyperuricemia state, the adrenal glands failed to respond to adrenocorticotropic hormone properly, leading to low cortisol, but not corticosterone production, and …

Novel Compound Heterozygous Variants In The Ush2a Gene Associated With Autosomal Recessive Retinitis Pigmentosa Without Hearing Loss, Yanxia Huang, Lamei Yuan, Guiyun He, Yanna Cao, Xiong Deng, Hao Deng

Faculty, Staff and Student Publications

Background: Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies characterized by the primary degeneration of rod photoreceptors and the subsequent loss of cone photoreceptors because of cell death. It is caused by different mechanisms, including inflammation, apoptosis, necroptosis, pyroptosis, and autophagy. Variants in the usherin gene (USH2A) have been reported in autosomal recessive RP with or without hearing loss. In the present study, we aimed to identify causative variants in a Han-Chinese pedigree with autosomal recessive RP.

Methods: A six-member, three-generation Han-Chinese family with autosomal recessive RP was recruited. A full clinical examination, whole exome …

Mri And Amino Acid Pet Detection Of Whole-Brain Tumor Burden, Peng Chen, Matthew L Scarpelli, Debbie R Healey, Shwetal Mehta, C Chad Quarles

Faculty, Staff and Student Publications

Background: [18F]fluciclovine amino acid PET has shown promise for detecting brain tumor regions undetected on conventional anatomic MRI scans. However, it remains unclear which of these modalities provides a better assessment of the whole brain tumor burden. This study quantifies the performance of [18F]fluciclovine PET and MRI for detecting the whole brain tumor burden.

Methods: Thirteen rats were orthotopically implanted with fluorescently transduced human glioblastoma cells. Rats underwent MRI (T1- and T2-weighted) and [18F]fluciclovine PET. Next brains were excised, optically cleared, and scanned ex vivo with fluorescence imaging. All images were co-registered using a novel landmark-based registration to enable a …

A Cross-Sectional Study To Test Equivalence Of Low- Versus Intermediate-Flip Angle Dynamic Susceptibility Contrast Mri Measures Of Relative Cerebral Blood Volume In Patients With High-Grade Gliomas At 15 Tesla Field Strength, Mark S Shiroishi, Dane Weinert, Steven Y Cen, Bino Varghese, Timothy Dondlinger, Melissa Prah, Jesse Mendoza, Sina Nazemi, Nima Ameli, Negin Amini, Salman Shohas, Shannon Chen, Bavrina Bigjahan, Gabriel Zada, Thomas Chen, Josh Neman-Ebrahim, Eric L Chang, Frances E Chow, Zhaoyang Fan, Wensha Yang, Frank J Attenello, Jason Ye, Paul E Kim, Vishal N Patel, Alexander Lerner, Jay Acharya, Leland S Hu, C Chad Quarles, Jerrold L Boxerman, Ona Wu, Kathleen M Schmainda

Faculty, Staff and Student Publications

INTRODUCTION: 1.5 Tesla (1.5T) remain a significant field strength for brain imaging worldwide. Recent computer simulations and clinical studies at 3T MRI have suggested that dynamic susceptibility contrast (DSC) MRI using a 30° flip angle ("low-FA") with model-based leakage correction and no gadolinium-based contrast agent (GBCA) preload provides equivalent relative cerebral blood volume (rCBV) measurements to the reference-standard acquisition using a single-dose GBCA preload with a 60° flip angle ("intermediate-FA") and model-based leakage correction. However, it remains unclear whether this holds true at 1.5T. The purpose of this study was to test this at 1.5T in human high-grade glioma (HGG) …

Current Chemoprevention Approaches In Lynch Syndrome And Familial Adenomatous Polyposis: A Global Clinical Practice Survey, Kathryn A Mraz, Rachel Hodan, Linda Rodgers-Fouche, Sanjeevani Arora, Francesc Balaguer, Jose G Guillem, Joanne M Jeter, Priyanka Kanth, Dan Li, David Liska, Joshua Melson, Kimberly Perez, Charite Ricker, Brian H Shirts, Eduardo Vilar, Bryson W Katona, Mev Dominguez-Valentin

Faculty, Staff and Student Publications

Background: International chemoprevention preferences and approaches in Lynch syndrome (LS) and APC-associated polyposis, including Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) have not been previously explored.

Aim: To describe current chemoprevention strategies for patients with LS or FAP/AFAP (referred to collectively as FAP) practiced by members of four international hereditary cancer societies through administration of a survey.

Results: Ninety-six participants across four hereditary gastrointestinal cancer societies responded to the survey. Most respondents (91%, 87/96) completed information regarding their demographics and practice characteristics relating to hereditary gastrointestinal cancer and chemoprevention clinical practices. Sixty-nine percent (60/87) of respondents offer chemoprevention …

Complex I Inhibitor Of Oxidative Phosphorylation In Advanced Solid Tumors And Acute Myeloid Leukemia: Phase I Trials, Timothy A Yap, Naval Daver, Mikhila Mahendra, Jixiang Zhang, Carlos Kamiya-Matsuoka, Funda Meric-Bernstam, Hagop M Kantarjian, Farhad Ravandi, Meghan E Collins, Maria Emilia Di Francesco, Ecaterina E Dumbrava, Siqing Fu, Sisi Gao, Jason P Gay, Sonal Gera, Jing Han, David S Hong, Elias J Jabbour, Zhenlin Ju, Daniel D Karp, Alessia Lodi, Jennifer R Molina, Natalia Baran, Aung Naing, Maro Ohanian, Shubham Pant, Naveen Pemmaraju, Prithviraj Bose, Sarina A Piha-Paul, Jordi Rodon, Carolina Salguero, Koji Sasaki, Anand K Singh, Vivek Subbiah, Apostolia M Tsimberidou, Quanyun A Xu, Musa Yilmaz, Qi Zhang, Yuan Li, Christopher A Bristow, Meenakshi B Bhattacharjee, Stefano Tiziani, Timothy P Heffernan, Christopher P Vellano, Philip Jones, Cobi J Heijnen, Annemieke Kavelaars, Joseph R Marszalek, Marina Konopleva

Faculty, Staff and Student Publications

Although targeting oxidative phosphorylation (OXPHOS) is a rational anticancer strategy, clinical benefit with OXPHOS inhibitors has yet to be achieved. Here we advanced IACS-010759, a highly potent and selective small-molecule complex I inhibitor, into two dose-escalation phase I trials in patients with relapsed/refractory acute myeloid leukemia (NCT02882321, n = 17) and advanced solid tumors (NCT03291938, n = 23). The primary endpoints were safety, tolerability, maximum tolerated dose and recommended phase 2 dose (RP2D) of IACS-010759. The PK, PD, and preliminary antitumor activities of IACS-010759 in patients were also evaluated as secondary endpoints in both clinical trials. IACS-010759 had a narrow …

Glucocorticoid Mediated Inhibition Of Lkb1 Mutant Non-Small Cell Lung Cancers, Kenneth E Huffman, Long Shan Li, Ryan Carstens, Hyunsil Park, Luc Girard, Kimberley Avila, Shuguang Wei, Rahul Kollipara, Brenda Timmons, Jessica Sudderth, Nawal Bendris, Jiyeon Kim, Pamela Villalobos, Junya Fujimoto, Sandra Schmid, Ralph J Deberardinis, Ignacio Wistuba, John Heymach, Ralf Kittler, Esra A Akbay, Bruce Posner, Yuzhuo Wang, Stephen Lam, Steven A Kliewer, David J Mangelsdorf, John D Minna

Faculty, Staff and Student Publications

The glucocorticoid receptor (GR) is an important anti-cancer target in lymphoid cancers but has been understudied in solid tumors like lung cancer, although glucocorticoids are often given with chemotherapy regimens to mitigate side effects. Here, we identify a dexamethasone-GR mediated anti-cancer response in a subset of aggressive non-small cell lung cancers (NSCLCs) that harbor Serine/Threonine Kinase 11 (STK11/LKB1) mutations. High tumor expression of carbamoyl phosphate synthase 1 (CPS1) was strongly linked to the presence of LKB1 mutations, was the best predictor of NSCLC dexamethasone (DEX) sensitivity (

Predictive Power Of Deep-Learning Segmentation Based Prognostication Model In Non-Small Cell Lung Cancer, Jordan C Gainey, Yusen He, Robert Zhu, Stephen S Baek, Xiaodong Wu, John M Buatti, Bryan G Allen, Brian J Smith, Yusung Kim

Faculty, Staff and Student Publications

Purpose: The study aims to create a model to predict survival outcomes for non-small cell lung cancer (NSCLC) after treatment with stereotactic body radiotherapy (SBRT) using deep-learning segmentation based prognostication (DESEP).

Methods: The DESEP model was trained using imaging from 108 patients with NSCLC with various clinical stages and treatment histories. The model generated predictions based on unsupervised features learned by a deep-segmentation network from computed tomography imaging to categorize patients into high and low risk groups for overall survival (DESEP-predicted-OS), disease specific survival (DESEP-predicted-DSS), and local progression free survival (DESEP-predicted-LPFS). Serial assessments were also performed using auto-segmentation based volumetric …

The Role Of Non-Coding Rnas In Chromosomal Instability In Cancer, Swati Mohapatra, Melanie Winkle, Anh N Ton, Dien Nguyen, George A Calin

Faculty, Staff and Student Publications

Chromosomal instability (CIN) is characterized by an increased frequency of changes in chromosome structure or number and is regarded as a hallmark of cancer. CIN plays a prevalent role in tumorigenesis and cancer progression by assisting the cancer cells' phenotypic adaptation to stress, which have been tightly linked to therapy resistance and metastasis. Both CIN-inducing and CIN-repressing agents are being clinically tested for the treatment of cancer to increase CIN levels to unsustainable levels leading to cell death or to decrease CIN levels to limit the development of drug resistance, respectively. Non-coding RNAs (ncRNAs) including microRNAs and long ncRNAs (lncRNAs) …

An Updated Examination Of The Perception Of Barriers For Pharmacogenomics Implementation And The Usefulness Of Drug/Gene Pairs In Latin America And The Caribbean, Aimeé Salas-Hernández, Macarena Galleguillos, Matías Carrasco, Andrés López-Cortés, María Ana Redal, Dora Fonseca-Mendoza, Patricia Esperón, Farith González-Martínez, Ismael Lares-Asseff, Alberto Lazarowski, Verónica Loera-Castañeda, Diadelis Remírez, Matías F Martínez, Rodrigo Vargas, Fabricio Rios-Santos, Antonio Macho, Juan P Cayún, Germán R Perez, Carolina Gutierrez, Leslie C Cerpa, Tamara Leiva, Susan Calfunao, Lesly Xajil, Christopher Sandoval, Marcelo Suárez, Ariana Gonzalez, Gabriela Echeverría-Garcés, Luis Sullón-Dextre, Eugenia Cordero-García, Alexis R Morales, Andrea Avendaño, Enrique Sánchez, Laura C Bastone, Cesar Lara, Patricia Zuluaga-Arias, Ana María Soler, Julio Da Luz, Gabriela Burgueño-Rodríguez, Marcelo Vital, Elizabeth Reyes-Reyes, Alexander Huaccha, Yeimy V Ariza, Naomi Tzul, Ana L Rendón, Roberto Serrano, Larissa Acosta, Angelo Motta-Pardo, Leonardo Beltrán-Angarita, Erika Brand, Miguel A Jiménez, Gladys Maribel Hidalgo-Lozada, Marina M J Romero-Prado, Karla Escobar-Castro, Mariel Umaña-Rivas, Juan D Vivas, Paola Lagos, Yineth Ballén Martínez, Sharleth Quesada, Camila Calfio, Maria L Arias, María A Lavanderos, Dante D Cáceres, Alberto Salazar-Granara, Nelson M Varela, Luis A Quiñones

Faculty, Staff and Student Publications

Pharmacogenomics (PGx) is considered an emergent field in developing countries. Research on PGx in the Latin American and the Caribbean (LAC) region remains scarce, with limited information in some populations. Thus, extrapolations are complicated, especially in mixed populations. In this paper, we reviewed and analyzed pharmacogenomic knowledge among the LAC scientific and clinical community and examined barriers to clinical application. We performed a search for publications and clinical trials in the field worldwide and evaluated the contribution of LAC. Next, we conducted a regional structured survey that evaluated a list of 14 potential barriers to the clinical implementation of biomarkers …

Leveraging A Genetically-Informative Study Design To Explore Depression As A Risk Factor For Type 2 Diabetes: Rationale And Participant Characteristics Of The Mood And Immune Regulation In Twins Study, Briana Mezuk, Kristen Kelly, Erica Bennion, Jeannie B Concha

Faculty, Staff and Student Publications

Background: Comorbidity between depression and type 2 diabetes is thought to arise from the joint effects of psychological, behavioral, and biological processes. Studies of monozygotic twins may provide a unique opportunity for clarifying how these processes inter-relate. This paper describes the rationale, characteristics, and initial findings of a longitudinal co-twin study aimed at examining the biopsychosocial mechanisms linking depression and risk of diabetes in mid-life.

Methods: Participants in the Mood and Immune Regulation in Twins (MIRT) Study were recruited from the Mid-Atlantic Twin Registry. MIRT consisted of 94 individuals who do not have diabetes at baseline, representing 43 twin pairs …

Editorial: Big Data Analytics To Advance Stroke And Cerebrovascular Disease: A Tool To Bridge Translational And Clinical Research, Alexis Nétis Simpkins, Hari Kishan Reddy Indupuru, Sean Isaac Savitz

Faculty, Staff and Student Publications

No abstract provided.

Erratum: Cxcl12-Mediated Monocyte Transmigration Into Brain Perivascular Space Leads To Neuroinflammation And Memory Deficit In Neuropathic Pain: Erratum, Chun-Lin Mai, Zhi Tan, Ya-Nan Xu, Jing-Jun Zhang, Zhen-Hua Huang, Dong Wang, Hui Zhang, Wen-Shan Gui, Jun Zhang, Zhen-Jia Lin, Ying-Tong Meng, Xiao Wei, Ying-Tao Jie, Peter M Grace, Long-Jun Wu, Li-Jun Zhou, Xian-Guo Liu

Faculty, Staff and Student Publications

No abstract provided.

Editorial: Case Reports In Cardio-Oncology: 2022, Michael S Ewer, Syed Wamique Yusuf, Reto Asmis, Jun-Ichi Abe

Faculty, Staff and Student Publications

No abstract provided.

Sustained Increases In Immune Transcripts And Immune Cell Trafficking During The Recovery Of Experimental Brain Ischemia, Munish Saini, Eshan Sengupta, Madanjit Singh, Harnoor Singh, Jaswinder Singh

Faculty, Staff and Student Publications

Sustainable Development Goals (SDG) are at the forefront of government initiatives across the world. The SDGs are primarily concerned with promoting sustainable growth via ensuring wellbeing, economic growth, environmental legislation, and academic advancement. One of the most prominent goals of the SDG is to provide learners with high-quality education (SDG 4). This paper aims to look at the perspectives of the Sustainable Development Goals improvised to provide quality education. We also analyze the existing state of multiple initiatives implemented by the Indian government in the pathway to achieving objectives of quality education (SDG 4). Additionally, a case study is considered …

Estimating Causal Effects With Hidden Confounding Using Instrumental Variables And Environments, James P Long, Hongxu Zhu, Kim-Anh Do, Min Jin Ha

Faculty, Staff and Student Publications

Recent works have proposed regression models which are invariant across data collection environments [24, 20, 11, 16, 8]. These estimators often have a causal interpretation under conditions on the environments and type of invariance imposed. One recent example, the Causal Dantzig (CD), is consistent under hidden confounding and represents an alternative to classical instrumental variable estimators such as Two Stage Least Squares (TSLS). In this work we derive the CD as a generalized method of moments (GMM) estimator. The GMM representation leads to several practical results, including 1) creation of the Generalized Causal Dantzig (GCD) estimator which can be applied …

Pain Experience And Sensory Changes In Astronauts During And After Short-Lasting Commercial Spaceflight: A Proof-Of-Concept Study, Andrea K Sauer, Marie Vigouroux, Patrick M Dougherty, Juan Pablo Cata, Pablo M Ingelmo

Faculty, Staff and Student Publications

Space travel has been associated with musculoskeletal pain, yet little is known about the nociceptive changes and pain experience during spaceflight. This preliminary study aims to investigate the pain experience and sensory alterations in astronauts following a 17-day mission to the International Space Station (ISS) on Axiom Space's AX-1 commercial space flight. Two participants were enrolled, and data were collected pre-flight, in-flight, post-flight, and three-month post-flight. Validated pain questionnaires assessed anxiety, catastrophizing, impact on physical and mental health, disability, and overall pain experience. Qualitative interviews were conducted post-landing and conditioned pain modulation (CPM) and quantitative sensory testing (QST) were performed. …

Multi-Organ Spatial Stratification Of 3-D Dose Distributions Improves Risk Prediction Of Long-Term Self-Reported Severe Symptoms In Oropharyngeal Cancer Patients Receiving Radiotherapy: Development Of A Pre-Treatment Decision Support Tool, Andrew Wentzel, Abdallah S R Mohamed, Mohamed A Naser, Lisanne V Van Dijk, Katherine Hutcheson, Amy M Moreno, Clifton D Fuller, Guadalupe Canahuate, G Elisabeta Marai

Faculty, Staff and Student Publications

Purpose: Identify Oropharyngeal cancer (OPC) patients at high-risk of developing long-term severe radiation-associated symptoms using dose volume histograms for organs-at-risk, via unsupervised clustering.

Material and methods: All patients were treated using radiation therapy for OPC. Dose-volume histograms of organs-at-risk were extracted from patients' treatment plans. Symptom ratings were collected via the MD Anderson Symptom Inventory (MDASI) given weekly during, and 6 months post-treatment. Drymouth, trouble swallowing, mucus, and vocal dysfunction were selected for analysis in this study. Patient stratifications were obtained by applying Bayesian Mixture Models with three components to patient's dose histograms for relevant organs. The clusters with the …

Overview Of The Hecktor Challenge At Miccai 2022: Automatic Head And Neck Tumor Segmentation And Outcome Prediction In Pet/Ct, Vincent Andrearczyk, Valentin Oreiller, Moamen Abobakr, Azadeh Akhavanallaf, Panagiotis Balermpas, Sarah Boughdad, Leo Capriotti, Joel Castelli, Catherine Cheze Le Rest, Pierre Decazes, Ricardo Correia, Dina El-Habashy, Hesham Elhalawani, Clifton D Fuller, Mario Jreige, Yornna Khamis, Agustina La Greca, Abdallah Mohamed, Mohamed Naser, John O Prior, Su Ruan, Stephanie Tanadini-Lang, Olena Tankyevych, Yazdan Salimi, Martin Vallières, Pierre Vera, Dimitris Visvikis, Kareem Wahid, Habib Zaidi, Mathieu Hatt, Adrien Depeursinge

Faculty, Staff and Student Publications

This paper presents an overview of the third edition of the HEad and neCK TumOR segmentation and outcome prediction (HECKTOR) challenge, organized as a satellite event of the 25th International Conference on Medical Image Computing and Computer Assisted Intervention (MICCAI) 2022. The challenge comprises two tasks related to the automatic analysis of FDG-PET/CT images for patients with Head and Neck cancer (H&N), focusing on the oropharynx region. Task 1 is the fully automatic segmentation of H&N primary Gross Tumor Volume (GTVp) and metastatic lymph nodes (GTVn) from FDG-PET/CT images. Task 2 is the fully automatic prediction of Recurrence-Free Survival (RFS) …

The Contemporary Management Of Cancers Of The Sinonasal Tract In Adults, Rajat Thawani, Myung Sun Kim, Asad Arastu, Zizhen Feng, Malinda T West, Nicholas F Taflin, Kyaw Zin Thein, Ryan Li, Mathew Geltzeiler, Nancy Lee, Clifton David Fuller, Jennifer R Grandis, Charalampos S Floudas, Michael C Heinrich, Ehab Hanna, Ravi A Chandra

Faculty, Staff and Student Publications

Sinonasal malignancies make up <5% of all head and neck neoplasms, with an incidence of 0.5-1.0 per 100,000. The outcome of these rare malignancies has been poor, whereas significant progress has been made in the management of other cancers. The objective of the current review was to describe the incidence, causes, presentation, diagnosis, treatment, and recent developments of malignancies of the sinonasal tract. The diagnoses covered in this review included sinonasal undifferentiated carcinoma, sinonasal adenocarcinoma, sinonasal squamous cell carcinoma, and esthesioneuroblastoma, which are exclusive to the sinonasal tract. In addition, the authors covered malignances that are likely to be encountered in the sinonasal tract-primary mucosal melanoma, NUT (nuclear protein of the testis) carcinoma, and extranodal natural killer cell/T-cell lymphoma. For the purpose of keeping this review as concise and focused as possible, sarcomas and malignancies that can be classified as salivary gland neoplasms were excluded.

Head And Neck Cancer Predictive Risk Estimator To Determine Control And Therapeutic Outcomes Of Radiotherapy (Hnc-Predictor): Development, International Multi-Institutional Validation, And Web Implementation Of Clinic-Ready Model-Based Risk Stratification For Head And Neck Cancer, Lisanne V Van Dijk, Abdallah Sr Mohamed, Sara Ahmed, Nafiul Nipu, G Elisabeta Marai, Kareem Wahid, Nanna M Sijtsema, Brandon Gunn, Adam S Garden, Amy Moreno, Andrew J Hope, Johannes A Langendijk, Clifton D Fuller

Faculty, Staff and Student Publications

Background: Personalised radiotherapy can improve treatment outcomes of patients with head and neck cancer (HNC), where currently a 'one-dose-fits-all' approach is the standard. The aim was to establish individualised outcome prediction based on multi-institutional international 'big-data' to facilitate risk-based stratification of patients with HNC.

Methods: The data of 4611 HNC radiotherapy patients from three academic cancer centres were split into four cohorts: a training (n = 2241), independent test (n = 786), and external validation cohorts 1 (n = 1087) and 2 (n = 497). Tumour- and patient-related clinical variables were considered in a machine learning pipeline to predict overall …