A5005323882- Cancer Genomics and Diagnostics
- Lung Cancer Treatments and Mutations
- Neuroendocrine Tumor Research Advances
- Neuroblastoma Research and Treatments
- Lung Cancer Research Studies
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- RNA modifications and cancer
- Pancreatic function and diabetes
- Sarcoma Diagnosis and Treatment
- Glioma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Neurofibromatosis and Schwannoma Cases
- Genomic variations and chromosomal abnormalities
- Chronic Lymphocytic Leukemia Research
- Lymphoma Diagnosis and Treatment
- Molecular Biology Techniques and Applications
- Telomeres, Telomerase, and Senescence
- Healthcare Policy and Management
- Cancer Immunotherapy and Biomarkers
- Immunodeficiency and Autoimmune Disorders
- Social Media in Health Education
- Innovative Approaches in Technology and Social Development
- Protein Degradation and Inhibitors
- DNA Repair Mechanisms
University of Pennsylvania
2017-2025
Kaiser Permanente
2022-2025
Kaiser Permanente San Jose Medical Center
2023
University of Wisconsin–Madison
2014-2020
Hospital of the University of Pennsylvania
2018-2019
Computational Diagnostics (United States)
2018
UW Health University Hospital
2013-2015
Northwestern University
2011
Neuroendocrine neoplasms (NENs) are heterogeneous neoplasms, which sometimes malignant, although predicting metastasis is difficult. INSM1 a transcription factor expressed transiently in embryonic neuroendocrine (NE) tissue, thought to coordinate termination of cell division with differentiation NE and neuroepithelial cells. In adult tissues, has been identified multiple tumors or origin but not thoroughly investigated as potential neoplastic marker.We evaluated semiquantitative...
The STK11 gene encodes a serine/threonine protein kinase that regulates cell polarity and functions as tumor suppressor. Patients with non-small-cell lung cancer (NSCLC) mutations often have other co-mutations. We evaluated the impact of KRAS TP53 co-mutations on outcomes after first-line systemic therapy for patients metastatic or recurrent NSCLC harbors mutations.We conducted retrospective review treated at University Pennsylvania. were identified through next-generation sequencing (NGS)...
Merkel cell carcinoma (MCC) is a rare, clinically aggressive, cutaneous neuroendocrine (NE) neoplasm. As tumor with small, round, blue cells, the histologic differential diagnosis for MCC can include melanoma, metastatic small (SCC), nodular hematopoietic tumors, basal (BCC), atypical variants of squamous and uncommon occurrence primary Ewing sarcoma. In cases histology or without classic immunophenotype, be challenging. Ultimately, immunohistochemistry (IHC) essential to definitive in...
Summary Rosai‐Dorfman disease (RDD) is an enigmatic histiocytic disorder classically diagnosed by a distinctive combination of pathological features: emperipolesis, or migration intact haematological cells through the voluminous cytoplasm lesional histiocytes, and expression S100 these histiocytes. The pathogenesis has long been elusive until recent detection recurrent mutually exclusive mutations in several oncogenes mitogen‐activated protein kinase (MAPK) pathway. Based on findings, we...
Mutations in SETD2 are found many tumors, including central nervous system (CNS) tumors. Previous work has shown these mutations occur specifically high grade gliomas of the cerebral hemispheres pediatric and young adult patients. We investigated a cohort approximately 640 CNS tumors via next generation sequencing; 23 were detected across 19 primary wide variety locations at broad range allele frequencies. seen both low as well non-glial occurred patients greater than 55 years age, addition...
Pituicytoma is a rare, poorly characterized tumor of the sellar region that thought to be derived from neurohypophyseal pituicytes. Resection pituicytomas often associated with significant morbidity including diabetes insipidus and panhypopituitarism. Most literature on this exists as small case series or reports. Here we describe cohort fourteen pituicytoma resections eleven patients. The average follow-up these cases 3.7 years some patients having over 10 data available in electronic...
Abstract Background Insm1 is a zinc-finger transcription factor transiently expressed throughout the developing nervous system in late progenitors and nascent neurons. also highly medulloblastomas other neuroendocrine tumors. Results We generated mice lacking gene used them to elucidate its role neurogenic proliferation of embryonic olfactory epithelium. found that deletion results more apical cells fewer mature In epithelium mutants we detect basal progenitors, which produce neurons, at...
Context.— Next-generation sequencing is a high-throughput method for detecting genetic abnormalities and providing prognostic therapeutic information patients with cancer. Oncogenic fusion transcripts are among the various classifications of present in tumors typically detected clinically fluorescence situ hybridization (FISH). However, FISH probes only exist limited number targets, do not provide any about partners, cannot be multiplex, have been shown to specificity common targets such as...
Copy number variants (CNVs) comprise a class of mutation which includes deletion, duplication, or amplification events that range in size from smaller than single-gene exon, to the full chromosome. These changes can affect gene expression levels and are thus implicated disease, including cancer. Although variety tools methodologies exist detect CNVs using data massively parallel sequencing (also referred as next-generation sequencing), it be difficult appreciate copy profile list format...
Immune checkpoint inhibition (ICI) therapy represents one of the great advances in field oncology, highlighted by Nobel Prize 2018. Multiple predictive biomarkers for ICI benefit have been proposed. These include assessment programmed death ligand-1 expression immunohistochemistry, and determination mutational genotype (microsatellite instability or mismatch repair deficiency tumor burden) as a reflection neoantigen expression. However, deployment these assays has challenging oncologists...
The College of American Pathologists (CAP) offers these templates to assist pathologists in providing clinically useful and relevant information when reporting results biomarker testing. CAP regards the elements as important test report, but manner which are reported is at discretion each specific pathologist, taking into account clinician preferences, institutional policies, individual practice.The developed educational tools information. It did not issue them for use litigation,...
The homologous recombination (HR) repair pathway plays a key role in double-stranded DNA break repair, and germline HR gene variants are associated with increased risk of several cancers, including breast ovarian cancer. deficiency is also therapeutically targetable phenotype.Somatic (tumour-only) sequencing was performed on 1,109 cases lung tumors, the pathological data were reviewed to filter for primary carcinomas. Cases filtered (disease-associated or uncertain significance) 14 genes,...
Neurotrophic receptor tyrosine kinase (NTRK) fusion testing has both diagnostic and therapeutic implications for patient care. With 2 tumor-agnostic US Food Drug Administration-approved tropomyosin (TRK) inhibitors, is increasingly used decision making. However, the landscape NTRK fusions complex, optimal depends on clinicopathologic scenario.To compare different methods to help pathologists understand test features performance characteristics make appropriate selections detection their...
The College of American Pathologists (CAP) offers these templates to assist pathologists in providing clinically useful and relevant information when reporting results biomarker testing. CAP regards the elements as important test report, but manner which are reported is at discretion each specific pathologist, taking into account clinician preferences, institutional policies, individual practice.The developed educational tools information. It did not issue them for use litigation,...