A5018981140- Cancer Genomics and Diagnostics
- Lung Cancer Treatments and Mutations
- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Cancer Cells and Metastasis
- Colorectal Cancer Treatments and Studies
- Acute Lymphoblastic Leukemia research
- Glioma Diagnosis and Treatment
- Cancer Treatment and Pharmacology
- Prenatal Screening and Diagnostics
- Cancer Research and Treatments
- Chronic Lymphocytic Leukemia Research
- Genomic variations and chromosomal abnormalities
- Ferroptosis and cancer prognosis
- BRCA gene mutations in cancer
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Neurogenesis and neuroplasticity mechanisms
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Protein Tyrosine Phosphatases
- Brain Metastases and Treatment
- Chronic Myeloid Leukemia Treatments
- Clinical Laboratory Practices and Quality Control
- Genomics and Rare Diseases
University of Pennsylvania
2015-2024
Hospital of the University of Pennsylvania
2013-2016
Pontificia Universidad Javeriana
2016
St. Christopher's Hospital for Children
2010-2011
Drexel University
2010-2011
National Center on Birth Defects and Developmental Disabilities
2010
The expanding number of targeted therapeutics for non-small cell lung cancer (NSCLC) necessitates real-time tumor genotyping, yet tissue biopsies are difficult to perform serially and often yield inadequate DNA next-generation sequencing (NGS). We evaluated the feasibility using cell-free circulating (ctDNA) NGS as a complement or alternative NGS.A total 112 plasma samples obtained from consecutive study 102 prospectively enrolled patients with advanced NSCLC were subjected ultra-deep up 70...
Abstract Purpose: DNA methyltransferase 3A (DNMT3A) is one of the commonly mutated genes in acute myelogenous leukemia (AML). Reports on prognostic significance DNMT3A mutations have been inconsistent, and most data are available only for patients 60 years age or younger. We hypothesized that this inconsistency due to an interaction between dose anthracycline used induction therapy status. studied whether with DNMT3A-mutated AML treated standard anthracyclines had inferior survival compared...
This is the case of an 84-year-old woman diagnosed with Stage IVb colon adenocarcinoma (CRC) metastatic to liver, retroperitoneum, anastomotic site, and distal rectal sigmoid colon. She experienced intolerable side effects systemic chemotherapy 5-fluorouracil bevacizumab, as well disease progression. Next generation sequencing her tumor was ordered, further discussion malignancy's genomic information took place at a multidisciplinary molecular board. The patient had mutations in KRAS...
Cancer somatic genetic evolution is a direct contributor to heterogeneity at the clonal and molecular level in colorectal adenocarcinoma (COAD). We sought determine extent which may be detected COAD routinely obtained single clinical specimens establish significance with regard clinicopathologic outcome data. One hundred twenty three cases of collected mismatch repair proficient were sequenced on Illumina Truseq Amplicon assay. Measures intratumoral preferential timing mutational events...
Rothmund-Thomson syndrome is an autosomal recessive disorder characterized by poikilodermatous skin changes that develop in infancy. Associated manifestations include juvenile cataracts, sparse hair, short stature, skeletal defects, dystrophic nails and teeth, hypogonadism. An increased incidence of malignancy, including osteosarcoma, has been reported patients with syndrome. The molecular basis the not known. This report describes a patient whom two primary osteosarcomas developed 12 years...
PURPOSE: Mutational status of isocitrate dehydrogenase (IDH1) is a defining feature the World Health Organization classification scheme for high grade gliomas (HGGs). IDH-mutant HGGs confer significantly improved prognoses when compared with IDH-wildtype, which typically describe most common malignant primary in adults, namely glioblastoma. are densely cellular, pleomorphic tumors mitotic activity, glioblastoma having either microvascular proliferation, or necrosis, both. We hypothesize that...
Abstract We initiated a Phase I study of intravenous delivery autologous T cells re-directed to the EGFR variant III mutation by means lentiviral vector encoding chimeric antigen receptor (CAR). Patients with recurrent glioblastoma (GBM) have their tumors screened for presence EGFRvIII next-generation sequencing based assay. Eligible patients undergo leukapheresis collection cells, which are genetically modified ex vivo express CAR, expanded, and then cryopreserved infusion. report results...
ABSTRACT Mutations commonly found in AML such as DNMT3A , TET2 and ASXL1 can be the peripheral blood of otherwise healthy adults – a phenomenon referred to clonal hematopoiesis (CH). These mutations are thought represent earliest genetic events evolution AML. Genomic studies on samples acquired at diagnosis, remission, relapse have demonstrated significant stability CH following induction chemotherapy. Meanwhile, later genes NPM1 FLT3 been shown contract remission case often absent relapse....
Myeloid leukemias are heterogeneous cancers with a diverse mutational landscape. Though many mutated genes fall within common protein complexes, some lack known functional partners and have unclear roles. PHF6 is poorly-understood chromatin-binding recurrent mutations that confer an unfavorable prognosis in acute chronic myeloid leukemias. Here, using human
Abstract While massively parallel sequencing technology has greatly expanded the number of molecular genetic tests available in oncology, little is known about spectrum and clinical utility findings obtained from testing tumors circulating tumor material specific patient populations. Here we report METAMORPH study, which stage IV breast cancer patients had metastatic biopsies (metDNA) concurrently collected cell-free DNA (cfDNA). Illumina TruSeq Cancer Panel (for metDNA) Guardant360 cfDNA)...
Abstract Tumor neoantigens are peptides unique to the cancer genome that can induce endogenous T-cell activity and contribute efficacy of immunotherapy. We sought characterize neoantigen repertoire in 20 breast 19 ovarian tumors from patients with germline BRCA1/2 mutations. Loss function leads genomic instability increased mutational burden, a key correlate clinical benefit To determine patient class I Human Leukocyte Antigen (HLA) haplotypes, whole exome sequencing data were analyzed using...
At our institution, multifaceted testing on bone marrow specimens, including flow cytometry, molecular, and cytogenetics, is triaged by the hematopathology service. The hematology laboratory transmits all aspirate aliquots to respective downstream laboratories upon each physician request, where samples reside until deemed appropriate Remaining specimens are held in …
<div>Abstract<p><b>Purpose:</b> DNA methyltransferase 3A (<i>DNMT3A</i>) is one of the commonly mutated genes in acute myelogenous leukemia (AML). Reports on prognostic significance <i>DNMT3A</i> mutations have been inconsistent, and most data are available only for patients 60 years age or younger. We hypothesized that this inconsistency due to an interaction between dose anthracycline used induction therapy status. studied whether with...
<p>Supplemental Table S1. Frequency of DNMT3A mutations</p>