A5073378652- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Lung Cancer Treatments and Mutations
- Genetic factors in colorectal cancer
- Lymphoma Diagnosis and Treatment
- Thyroid Cancer Diagnosis and Treatment
- Molecular Biology Techniques and Applications
- Viral-associated cancers and disorders
- Telomeres, Telomerase, and Senescence
- Glioma Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Chromatin Remodeling and Cancer
- Gene expression and cancer classification
- BRCA gene mutations in cancer
- Cutaneous Melanoma Detection and Management
- Pancreatic and Hepatic Oncology Research
- Ubiquitin and proteasome pathways
- Cancer Mechanisms and Therapy
- Celiac Disease Research and Management
- Neuroblastoma Research and Treatments
- Colorectal and Anal Carcinomas
- Cancer Immunotherapy and Biomarkers
- Genomics and Chromatin Dynamics
Columbia University Irving Medical Center
2016-2025
NewYork–Presbyterian Hospital
2013-2023
Columbia University
2016-2023
New York Hospital Queens
2013-2021
Center for Genomic Science
2020
Loyola University Chicago
2018
Caris Life Sciences (United States)
2018
University of Chicago
2018
Foundation Medicine (United States)
2018
Texas Health Dallas
2018
Molecular characterization has the potential to advance management of pediatric cancer and high-risk hematologic disease. The clinical integration genome sequencing into standard practice been limited utility identify clinically impactful information beyond targetable alterations underestimated. Precision in Pediatric Sequencing (PIPseq) Program at Columbia University Medical Center instituted prospective next generation (NGS) for disorders risk treatment failure. We performed whole exome...
Tankyrases are proteins with poly(ADP-ribose) polymerase activity. Human tankyrases post-translationally modify multiple involved in processes including maintenance of telomere length, sister association, and trafficking glut4-containing vesicles. To date, however, little is known about vivo functions for tankyrases. We recently reported that body size was significantly reduced mice deficient tankyrase 2, but these otherwise appeared developmentally normal. In the present study, we report...
Abstract The EIF1AX gene mutations have been recently found in papillary thyroid carcinoma (PTC) and anaplastic (ATC). prevalence of these other types cancers benign nodules is unknown. In this study, we analyzed the occurrence exons 2, 5, 6 a series 266 tumors hyperplastic by either Sanger or next-generation sequencing (ThyroSeq v.2). addition, 647 fine-needle aspiration (FNA) samples with indeterminate cytology were analyzed. Using surgically removed samples, detected 3/86 (2.3%) PTC, 1/4...
Indolent T-cell lymphoproliferative disorders of the gastrointestinal tract are rare clonal diseases that more commonly occur in intestines and have a protracted clinical course. Different immunophenotypic subsets been described, but molecular pathogenesis cell origin these lymphocytic proliferations is poorly understood. Hence, we performed targeted next-generation sequencing comprehensive analysis ten indolent tract, which comprised CD4+ (n=4), CD8+ CD4+/CD8+ (n=1) CD4-/CD8- cases. Genetic...
The Papanicolaou Society of Cytopathology has developed a set guidelines for respiratory cytology including indications sputum examination, bronchial washings and brushings, CT-guided FNA endobronchial ultrasound guided fine needle aspiration (EBUS-FNA), as well recommendations classification criteria, ancillary testing post-cytologic diagnosis management follow-up. All recommendation documents are based on the expertise committee members, an extensive literature review, feedback from...
Refractory celiac disease type II (RCD II), also referred to as “cryptic” enteropathy-associated T-cell lymphoma (EATL) or “intraepithelial lymphoma,” is a rare clonal lymphoproliferative disorder that arises from innate intraepithelial lymphocytes. RCD has poor prognosis and frequently evolves EATL. The pathogenesis of not well understood data regarding the immunophenotypic spectrum this underlying genetic alterations are limited. To gain further biological insights, we performed...
Candida auris is an emerging multidrug-resistant pathogen. Interpretation of susceptibility testing can be difficult since minimum inhibitory concentration (MIC) breakpoints have not been fully established.
Introduction: MET Exon 14 skipping alterations are drivers of non-small cell lung carcinoma (NSCLC) with responses to tyrosine kinase inhibitors. Amplicon-based DNA NGS assays (DNA NGSs) for the detection METex14 can yield false-negative results. We examined efficacy a and reflex RNA-based (RNA NGS) strategy. Materials Methods: Clinical cases definitive or suspected adenocarcinoma (LungCa), lacking driver mutations targeted NGS, underwent RNA identify oncogenic drivers. Samples identified on...
Regulation of telomere length maintenance and capping are a critical cell functions in both normal tumor cells.Tankyrase 2 (Tnks2) is poly(ADP-ribose) polymerase (PARP) that has been shown to modify itself TRF1, telomere-binding protein.We show here by overexpression studies tankyrase 2, like its closely related homolog 1, can function as positive regulator human cells, dependent on catalytic PARP activity.To study the role Tnks2 vivo, we generated mice with domain deleted.These viable...
Background: The advent of comprehensive genomic profiling has markedly advanced the understanding biology pediatric hematologic malignancies, however its application to clinical care is still unclear. We present our experience integrating data into management children with high-risk malignancies and blood disorders describe broad impact that in multiple aspects patient care. Methods: Precision Pediatric Sequencing (PIPseq) Program at Columbia University Medical Center (CUMC) instituted...
Telomeres protect chromosome ends from being viewed as double-strand breaks and eliciting a DNA damage response. Deprotection of occurs when telomeres become critically short because replicative attrition or inhibition TRF2. In this study, we report novel form deprotection that exclusively after replication in S/G2 phase the cell cycle. cells deficient telomeric poly(adenosine diphosphate ribose) polymerase tankyrase 1, sister telomere resolution is blocked. Unexpectedly, cohered deprotected...
Pleomorphic xanthoastrocytoma (PXA) is a World Health Organization (WHO) Grade II glioma occurring primarily in children and young adults. Most PXAs harbor the known activating mutation BRAF V600E. We report case of locally recurrent PXA with anaplastic features 10-yr-old female. The was negative by immunohistochemical (IHC) staining for V600E mutation. Whole-exome transcriptome sequencing tumor confirmed absence V600E, but identified copy-number alterations (including loss suppressor CDKN2A...
The routine use of large next-generation sequencing (NGS) pan-cancer panels is required to identify the increasing number of, but often uncommon, actionable alterations guide therapy. Inconsistent coverage and variable payment hindering NGS adoption into clinical practice. A review test utilization, utility, coverage, reimbursement was conducted in a cohort patients diagnosed with high-risk cancer who received panel testing as part their care.The Columbia Combined Cancer Panel (CCCP),...
The clinical management of pediatric liver tumors involves stratification into risk groups. One previously defined, high-risk group hepatoblastomas is the small cell undifferentiated variant. In light molecular studies showing SMARCB1 deletion in these tumors, it now recognized that most cell, represent an aggressive unrelated tumor-the malignant rhabdoid tumor (MRT). a member chromatin remodeling SWI/SNF complex and encodes INI1 protein. histologic diagnosis MRT currently based on negative...