Childhood cancer survivorship studies generate comprehensive datasets comprising demographic, diagnosis, treatment, outcome, and genomic data from survivors. To broadly share this data, we created the St. Jude Survivorship Portal (https://survivorship.stjude.cloud), the first data portal for sharing, analyzing, and visualizing pediatric cancer survivorship data. More than 1,600 phenotypic variables and 400 million genetic variants from more than 7,700 childhood cancer survivors can be explored on this free, open-access portal. Summary statistics of variables are computed on-the-fly and visualized through interactive and customizable charts. Survivor cohorts can be customized and/or divided into groups for comparative analysis. Users can also seamlessly perform cumulative incidence and regression analyses on the stored survivorship data. Using the portal, we explored the ototoxic effects of platinum-based chemotherapy, uncovered a novel association between mental health, age, and limb amputation, and discovered a novel haplotype in MAGI3 strongly associated with cardiomyopathy specifically in survivors of African ancestry. Significance: The St. Jude Survivorship Portal is the first data portal designed to share and explore clinical and genetic data from childhood cancer survivors. The portal provides both open- and controlled-access features and will fulfill a wide range of data sharing needs of the survivorship research community and beyond. See co-corresponding author Xin Zhou discuss this research article, published simultaneously at the AACR Annual Meeting 2024: https://vimeo.com/932617204/7d99fa4958
Communication is a fundamental part of scientific development and methodology. With the advancement of the internet and social networks, communication has become rapid and sometimes overwhelming, especially in science. It is important to provide scientists with useful, effective, and dynamic tools to establish and build a fluid communication framework that allows for scientific advancement. Therefore, in this article, we present advice and recommendations that can help promote and improve science communication while respecting an adequate balance in the degree of commitment toward collaborative work. We have developed 10 rules shown in increasing order of commitment that are grouped into 3 key categories: (1) speak (based on active participation); (2) join (based on joining scientific groups); and (3) assess (based on the analysis and retrospective consideration of the weaknesses and strengths). We include examples and resources that provide actionable strategies for involvement and engagement with science communication, from basic steps to more advanced, introspective, and long-term commitments. Overall, we aim to help spread science from within and encourage and engage scientists to become involved in science communication effectively and dynamically.
Sequencing of bulk tumor populations has improved genetic classification and risk assessment of B-ALL, but does not directly examine intratumor heterogeneity or infer leukemia cellular origins. We profiled 89 B-ALL samples by single-cell RNA-seq (scRNA-seq) and compared them to a reference map of normal human B-cell development established using both functional and molecular assays. Intra-sample heterogeneity was driven by cell cycle, metabolism, differentiation, and inflammation transcriptional programs. By inference of B lineage developmental state composition, nearly all samples possessed a high abundance of pro-B cells, with variation between samples mainly driven by sub-populations. However, ZNF384- r and DUX4- r B-ALL showed composition enrichment of hematopoietic stem cells, BCR::ABL1 and KMT2A -r ALL of Early Lymphoid progenitors, MEF2D -r and TCF3::PBX1 of Pre-B cells. Enrichment of Early Lymphoid progenitors correlated with high-risk clinical features. Understanding variation in transcriptional programs and developmental states of B-ALL by scRNA-seq refines existing clinical and genomic classifications and improves prediction of treatment outcome.
Smokeless tobacco (ST) is an alternative to smoking, which involves not the burning of tobacco. Although ST has been used for thousands of years, its health effects are not well characterized, and it is the subject of misconceptions throughout society. Therefore, it is crucial to identify the risks associated with ST use. We conducted a comprehensive search of the scientific literature to identify studies reporting associations between tobacco chewing and the risk of oral cancer and premalignant lesions. Our review discusses the molecular mechanisms associated with ST components, along with the role of ST use in speech impairment and cancer progression. We also examine the effectiveness of tobacco cessation strategies and review the existing perceptions held by ST consumers. Our findings indicate significant health risks associated with ST use, including increased cancer risk and speech impairments. As societal perceptions and misconceptions about ST are important factors that influence its use, there is a need for comprehensive public awareness campaigns to correct these misconceptions and to promote healthier lifestyle choices. We call for further research to improve cessation interventions and to increase public awareness of relevant research discoveries. By providing a thorough discussion of the health impacts of ST, we aim to inform policy decisions and public health strategies to reduce the prevalence of ST use.
Medulloblastoma is a prevalent, highly heterogeneous malignant pediatric brain cancer. In this study, we developed the Medulloblastoma Meta-Analysis portal, a web-based data analysis and visualization platform that consolidates clinical, molecular, and survival data of 898 patients from three major clinical trials (ACNS0331, ACNS0332, and SJMB03). The portal integrated clinical data with genomic mutations and DNA methylomes, enabling in-depth analyses of tumor subgroups and survival outcomes. Dynamic exploration and custom stratification of these data were made possible by the portal’s user-friendly visualization tools powered by the ProteinPaint framework, allowing users to select from a wide range of variables or customize their own. The Cox regression analysis tool in the portal demonstrated utility in examining the prognostic impact of variables across a heterogeneous dataset. Additionally, an in-depth exploration of medulloblastomas that harbor KBTBD4 mutations and their corresponding methylomes generated leads that could help improve molecular classification. These use cases underscore the portal’s utility in enhancing risk stratification, informing tailored therapeutic strategies, and revealing the complexities of molecular heterogeneity in patients with medulloblastoma. The portal, along with links to the tutorials and live figures, is freely available at https://viz.stjude.cloud/st-jude-childrens-research-hospital/visualization/medulloblastoma-integrative-analysis-portal~2882. Significance: The MB-meta portal facilitates risk stratification of patients using molecular, genomic, clinical, and demographic data, representing a significant step in neuro-oncology data sharing by offering an intuitive web-based platform for complex analyses.