A5049938267- Glioma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Pancreatic and Hepatic Oncology Research
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromatin Remodeling and Cancer
- Parvovirus B19 Infection Studies
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Tumors and Oncological Cases
- Lung Cancer Treatments and Mutations
- Neuroblastoma Research and Treatments
- Neurofibromatosis and Schwannoma Cases
- Fetal and Pediatric Neurological Disorders
- Meningioma and schwannoma management
- Bladder and Urothelial Cancer Treatments
- Acute Myeloid Leukemia Research
- Epigenetics and DNA Methylation
- Cancer Cells and Metastasis
- Blood groups and transfusion
- RNA modifications and cancer
- Radiomics and Machine Learning in Medical Imaging
- Sarcoma Diagnosis and Treatment
- BRCA gene mutations in cancer
University of California, San Francisco
2015-2024
UCSF Helen Diller Family Comprehensive Cancer Center
2022
Washington Center
2022
University of California, San Diego
2021
University of California, Los Angeles
2021
University of California, Irvine
2021
University of California, Davis
2021
Emory University Hospital
2020
National Institute of Health
2020
Molecular profiling is revolutionizing cancer diagnostics and leading to personalized therapeutic approaches. Herein we describe our clinical experience performing targeted sequencing for 31 pediatric neuro-oncology patients.We sequenced 510 cancer-associated genes from tumor peripheral blood identify germline somatic mutations, structural variants, copy number changes.Genomic was performed on patients with tumors including 11 high-grade gliomas, 8 medulloblastomas, 6 low-grade 1 embryonal...
The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal still emerging. Nonimmune hydrops fetalis (NIHF), a abnormality that often lethal, numerous causes; the extent to which exome can aid in unclear.We evaluated series 127 consecutive unexplained cases NIHF were defined by presence ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency,...
Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset gangliogliomas are known to harbor activating p.V600E mutation in BRAF oncogene, genetic alterations responsible remainder largely unknown, as spectrum any additional cooperating gene mutations or copy number alterations. We performed targeted next-generation sequencing provides comprehensive assessment mutations, fusions, and on cohort 40...
Abstract Purpose: On the basis of preclinical evidence synergistic activity between MEK and EGFR inhibitors in pancreatic ductal adenocarcinoma (PDAC), we evaluated safety efficacy selumetinib, a MEK1/2 inhibitor, plus erlotinib patients with previously treated advanced PDAC. Experimental Design: In this single-arm phase II trial, eligible received combination 100 mg selumetinib daily 3-week cycles. Study assessments included measurement clinical outcomes, primary endpoint overall survival,...
Abstract Pleomorphic xanthoastrocytoma ( PXA ) is an astrocytic neoplasm that typically well circumscribed and can have a relatively favorable prognosis. Tumor progression to anaplastic WHO grade III ), however, associated with more aggressive biologic behavior worse The factors drive are largely unknown. We performed comprehensive genomic profiling on set of 23 s from 19 patients, including 15 . Four patients had tumor tissue multiple recurrences, two progression. find genetically defined...
Abstract High‐grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication (HGNET ex15 ITD) is a recently proposed entity of the central nervous system (CNS) distinct methylation profile and characteristic genetic alteration. The complete spectrum histologic features, accompanying alterations, clinical outcomes, optimal treatment for this new are largely unknown. Here, we performed comprehensive assessment 10 cases HGNET ITD. tumors mostly occurred in young children were located...
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We the ES a cohort predominantly US URM pediatric prenatal patients suspected to have genetic disorder. Eligible had multiple congenital anomalies and/or neurocognitive disabilities one or more structural anomalies, disorders fetal growth, effusions. were prioritized for enrollment underwent at single...
Abstract Chordoid glioma is a rare brain tumor thought to arise from specialized glial cells of the lamina terminalis along anterior wall third ventricle. Despite being histologically low-grade, chordoid gliomas are often associated with poor outcome, as their stereotypic location in ventricle makes resection challenging and efficacious adjuvant therapies have not been developed. Here we performed genomic profiling on 13 identified recurrent D463H missense mutation PRKCA all tumors, which...
Abstract “Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant” is a recently described tumor entity of the central nervous system with predilection for origin in septum pellucidum and defining dinucleotide mutation at codon 385 oncogene replacing lysine either leucine or isoleucine (p.K385L/I). Clinical outcomes optimal treatment this new have yet to be defined. Here, we report comprehensive clinical, radiologic, histopathologic assessment eight cases. In addition its stereotypic location...
Abstract It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those European ancestry. We examined the association of DY estimated continental/subcontinental genetic ancestry in a racially/ethnically diverse pediatric and prenatal clinical cohort. Cases ( N = 845) suspected disorders underwent ES for diagnosis. Continental/subcontinental proportions were data. compared distribution positive, negative,...
FIGO grade 3 endometrioid endometrial carcinoma (EEC) is a heterogenous group of tumors with variable molecular and clinicopathologic characteristics but treated clinically as single entity. There need for additional objective markers to help guide management. The aim this study was evaluate cohort EEC validate the prognostic impact classification using POLE mutation ( -mut) analysis immunohistochemistry p53 mismatch repair proteins. A secondary assess any morphologic or immunophenotypic...
Mucoepidermoid carcinomas (MEC) are the most common malignant neoplasms of salivary glands, but uncommon in other sites. Salivary gland MEC frequently associated with CRTC1-MAML2 translocations. Exceedingly rare breast demonstrate a basal-like and often triple (oestrogen progesterone receptor, HER2)-negative immunophenotype, single case previously reported to show MAML2 rearrangement, although fusion partner was not known. Comprehensive genomic studies lacking. In this study, we analysed...