A5078610139- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Glioma Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Neuroblastoma Research and Treatments
- Sarcoma Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- Cancer-related Molecular Pathways
- Asthma and respiratory diseases
- Protein Degradation and Inhibitors
- Natural Language Processing Techniques
- Lung Cancer Research Studies
- Lung Cancer Treatments and Mutations
- Chronic Lymphocytic Leukemia Research
- Lymphoma Diagnosis and Treatment
- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
- Renal and related cancers
- Chromatin Remodeling and Cancer
- Cancer, Hypoxia, and Metabolism
- Vascular Tumors and Angiosarcomas
- Gene expression and cancer classification
- Tumors and Oncological Cases
Children's Hospital of Philadelphia
2016-2025
University of Pennsylvania
2016-2025
Philadelphia University
2016-2025
University of Michigan–Ann Arbor
2024
Guiyang Medical University
2024
Affiliated Hospital of Guizhou Medical University
2024
LAC+USC Medical Center
2013-2023
Baylor College of Medicine
2013-2023
University of Wisconsin–Madison
2023
University of Minnesota Rochester
2018-2023
Abstract The role of ubiquitin-mediated degradation mechanisms in the pathogenesis diffuse large B cell (DLBCL) and follicular lymphoma (FL) is not completely understood. We show that conditional deletion E3 ubiquitin ligase Fbxo45 germinal center B-cells results B-cell lymphomagenesis homozygous (100%) heterozygous (48%) mice. Mechanistically, FBXO45 targets RHO guanine exchange factor ARHGEF2/GEF-H1 for degradation. Double genetic ablation Arhgef2 ameliorated formation. Transgenic knock-in...
Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, approach was single-gene or focused multigene testing, but centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report laboratory validation clinical utility a large cohort NGS somatic results diagnosis, prognosis, treatment wide range Subjects were accrued retrospectively at single quaternary-care hospital. Sequence analyses performed on 367...
The American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) is an international pan-cancer registry with the goal to inform cancer research and clinical care worldwide. Founded in late 2015, milestone GENIE 9.1-public release contains data from >110,000 tumors >100,000 people treated at 19 centers United States, Canada, Kingdom, France, Netherlands, Spain. Here, we demonstrate use of these real-world data, harmonized through a...
Neurotrophic tyrosine receptor kinase (NTRK) fusions have been described as oncogenic drivers in a variety of tumors. However, little is known about the overall frequency NTRK fusion unselected pediatric Here, we assessed frequency, partners, and clinical course patients with fusion-positive tumors.We studied 1,347 consecutive tumors from 1,217 who underwent tumor genomic profiling using custom-designed DNA RNA next-generation sequencing panels. identified were orthogonally confirmed.NTRK 29...
In 2014, data from a comprehensive multiplatform analysis of 496 adult papillary thyroid cancer samples reported by The Cancer Genome Atlas project suggested that reclassification into molecular subtypes,
Clinical laboratories implement a variety of measures to classify somatic sequence variants and identify clinically significant facilitate the implementation precision medicine. To standardize interpretation process, Association for Molecular Pathology (AMP), American Society Oncology (ASCO), College Pathologists (CAP) published guidelines reporting in cancer 2017. These using four-tiered system with ten criteria. Even standardized guidelines, assessing clinical impacts remains be tedious....
Several knowledgebases are manually curated to support clinical interpretations of thousands hotspot somatic mutations in cancer. However, discrepancies or even conflicting observed among these databases. Furthermore, many previously undocumented may have functional impacts on cancer but not systematically interpreted by existing knowledgebases. To address challenges, we developed CancerVar facilitate automated and standardized for 13 million based the AMP/ASCO/CAP 2017 guidelines. We...
Neuroblastoma evolution, heterogeneity, and resistance remain inadequately defined, suggesting a role for circulating tumor DNA (ctDNA) sequencing. To define the utility of ctDNA profiling in neuroblastoma, 167 blood samples from 48 high-risk patients were evaluated using comprehensive genomic profiling. At least one pathogenic alteration was identified 56% 73% evaluable patients, including clinically actionable ALK RAS-MAPK pathway variants. Fifteen received inhibition (ALKi), data revealed...
Abstract Dysembryoplastic neuroepithelial tumors (DNT) lacking key diagnostic criteria are challenging to diagnose and sometimes fall into the broader category of mixed neuronal-glial (MNGT) or recently described polymorphous low-grade tumor young (PLNTY). We examined 41 patients with DNT, MNGT, PLNTY for histologic features, genomic findings, progression-free survival (PFS). Genomic analysis included sequence copy number variants RNA-sequencing. Classic DNT (n = 26) was compared those...
Our aim is to review the literature and provide guidelines for assessment of uninvestigated dysphagia.A systematic search identified studies on dysphagia. The quality evidence strength recommendations were rated according Grading Recommendation Assessment, Development, Evaluation (GRADE) approach. Statements discussed revised via small group meetings, teleconferences, a web-based platform until consensus was reached by full group.The includes 13 statements focused role strategies esophageal...
Real-world data sets that combine clinical and genomic may be subject to left truncation (when potential study participants are not included because they have already passed the milestone of interest at time recruitment). The lapse between diagnosis molecular testing can present analytic challenges threaten validity interpretation survival analyses.Effects ignoring when estimating overall illustrated using from American Association for Cancer Research (AACR) Project Genomics Evidence...
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We report a case of acute myeloid leukemia with megakaryoblastic differentiation (AMKL) that developed after an initial B-lymphoblastic (B-ALL) low hypodiploidy. Although the AMKL was initially thought either to be phenotypic change from original B-ALL or have arisen as result treatment (acute leukemia, post cytotoxic therapy, AML-pCT [WHO]; AML, therapy related [ICC]), genetic evaluation both and suggest neither these considerations correct. Rather, did not harbor most common hallmark...
Abstract The contribution of rare pathogenic/likely pathogenic (P/LP) germline variants to pediatric central nervous system (CNS) tumor development remains understudied. Here, we characterized the prevalence and clinical significance P/LP in cancer predisposition genes across 830 CNS patients from Pediatric Brain Tumor Atlas (PBTA). We identified 24.2% (201/830) majority (154/201) lacked reporting genetic syndromes. Among carriers, 30.7% had putative somatic second hits or loss function...