- Chronic Myeloid Leukemia Treatments
- Acute Myeloid Leukemia Research
- Chronic Lymphocytic Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Eosinophilic Disorders and Syndromes
- Iron Metabolism and Disorders
- Cancer Genomics and Diagnostics
- Hemoglobinopathies and Related Disorders
- Acute Lymphoblastic Leukemia research
- Lymphoma Diagnosis and Treatment
- Blood Coagulation and Thrombosis Mechanisms
- Trace Elements in Health
- Hemophilia Treatment and Research
- Folate and B Vitamins Research
- Hematopoietic Stem Cell Transplantation
- Venous Thromboembolism Diagnosis and Management
- Multiple Myeloma Research and Treatments
- Glycosylation and Glycoproteins Research
- RNA and protein synthesis mechanisms
- Click Chemistry and Applications
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genomics and Rare Diseases
- Protein Degradation and Inhibitors
- Virus-based gene therapy research
- Histone Deacetylase Inhibitors Research
Oregon Health & Science University
2016-2025
OHSU Knight Cancer Institute
2015-2023
Quest Diagnostics (United Kingdom)
2022
Washington University in St. Louis
2018
Cornell University
2018
Weill Cornell Medicine
2018
Cancer Institute (WIA)
2006-2016
University of Portland
2011
Leiden University Medical Center
2009
Center for Cancer and Blood Disorders
2007
Background Increased homocysteine levels are a risk factor for atherosclerosis and its sequelae. A common genetic mutation in methylenetetrahydrofolate reductase (MTHFR), an enzyme required efficient metabolism, creates thermolabile with reduced activity. We determined the prevalence of this many subjects without vascular disease related it to folate levels. Methods Results DNA from 247 older 594 healthy (in three different control groups) was screened MTHFR 677 C-to-T mutation. Within each...
Colony-stimulating factor-3 receptor (
Risk stratification in acute myeloid leukemia (AML) remains principle survival prognostication and treatment selection. The 2022 European LeukemiaNet (ELN) recommendations were recently published, with notable updates to risk group assignment. complexity of comparative outcomes between the 2017 ELN guidelines unknown. This analysis evaluated criteria patients enrolled within multicenter Beat AML cohort. Five hundred thirteen included. Most had 1 or 2 risk-defining abnormalities. In ≥2...
Abstract Purpose: Imatinib induces a complete cytogenetic response (CCR) in most chronic myeloid leukemia patients phase. Although CCR is usually durable, minority of relapse. Biomarkers capable predicting those with higher risk relapse would improve therapeutic management. Experimental Design: To assess whether changes BCR-ABL RNA levels are prognostic biomarker predictive relapse, we regularly monitored transcript [every 3 months (median)] 90 during 49 (median) imatinib therapy. Results:...
Mutations in CSF3R (colony-stimulating factor 3 receptor) are frequent oncogenic drivers chronic neutrophilic leukemia (CNL) and atypical myeloid (aCML). Here we describe a 75 year old man who was diagnosed with CSF3R-T618I-positive CML. He presented leukocytosis, anemia, thrombocytopenia developed massive splenomegaly severe constitutional symptoms. Hydroxyurea given over 6 month period but failed to provide any measureable clinical benefit. Eventually, he treated ruxolitinib, an...
In acute myeloid leukemia (AML), the assessment of post-treatment minimal residual disease (MRD) may inform a more effective management approach. We investigated prognostic utility next-generation sequencing (NGS)-based MRD detection undertaken before hematopoietic stem cell transplantation (HSCT). Forty-two AML subjects underwent serial monitoring both by standard methods, and targeted 42-gene NGS assay, able to detect leukemia-specific mutant alleles (with >0.5% VAF) (mean 5.1 samples per...
Abstract Objective.—To review the current state of art regarding role clinical laboratory in diagnostic testing for factor V Leiden (FVL) thrombophilic mutation (and other protein C resistance disorders), and to generate, through literature reviews opinions recognized thought-leaders, expert consensus recommendations on methodology diagnostic, prognostic, management issues pertaining FVL testing. Data Sources, Extraction, Synthesis.—An initial thorough medical best practices by a panel 4...
Background and Purpose A common missense mutation in coagulation factor V (Arg 506 Gln) creates phenotypic resistance to the anticoagulant effects of activated protein C predisposes carriers venous thrombosis. To assess a correlation between this hypercoagulable state ischemic cerebrovascular disease, we have compared prevalence group stroke patients with that several control patient groups. Methods The presence Arg Gln was determined by direct polymerase chain reaction–based assay on...
Significance Many therapeutic strategies are hampered by the development of drug resistance. High-throughput random mutagenesis screens represent a promising approach for identifying mutations that lead to resistance, but have often identified more resistant than observed in patients, raising questions their clinical significance. We developed an improved high-throughput screening uses CRISPR-Cas9–based genome editing generate comprehensive libraries point at defined genomic location and...
Molecular monitoring of chronic myeloid leukemia patients using robust BCR-ABL1 tests standardized to the International Scale (IS) is key proper disease management, especially when treatment cessation considered. Most laboratories currently use a time-consuming sample exchange process with reference for IS calibration. A World Health Organization (WHO) panel was developed (MR(1)-MR(4)), but access material limited. In this study, we describe development first cell-based secondary that...
Abstract Acute myeloid leukemia (AML) is a genetically heterogeneous disease with clinical course predicted by recurrent cytogenetic abnormalities and/or gene mutations. The NPM1 insertion mutations define the largest distinct genetic subset, ∼30% of AML, and considered favorable risk marker if there no (or low allelic ratio) FLT3 internal tandem duplication (FLT3 ITD) mutation. However, ∼40% patients mutated without ITD still relapse, factors that drive relapse are not fully understood. We...