A5052167357- Cancer Genomics and Diagnostics
- HER2/EGFR in Cancer Research
- Monoclonal and Polyclonal Antibodies Research
- Prenatal Screening and Diagnostics
- Molecular Biology Techniques and Applications
- Genomic variations and chromosomal abnormalities
- Gene expression and cancer classification
- Chronic Lymphocytic Leukemia Research
- Breast Cancer Treatment Studies
- Sarcoma Diagnosis and Treatment
- Cutaneous Melanoma Detection and Management
- Acute Myeloid Leukemia Research
- Bone Tumor Diagnosis and Treatments
- Ovarian cancer diagnosis and treatment
- Melanoma and MAPK Pathways
- RNA modifications and cancer
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Radiomics and Machine Learning in Medical Imaging
- Pancreatic and Hepatic Oncology Research
- Gastrointestinal disorders and treatments
- Ocular Oncology and Treatments
- Breast Lesions and Carcinomas
- Chronic Myeloid Leukemia Treatments
- Tumors and Oncological Cases
- Soft tissue tumor case studies
Mayo Clinic
2016-2024
Mayo Clinic in Arizona
2016-2024
WinnMed
2018-2023
Collaborative Drug Discovery (United States)
2020
Mayo Clinic in Florida
2018-2019
University of Nebraska Medical Center
2018
Lurie Children's Hospital
2018
University of Kansas Medical Center
2018
College of American Pathologists
2018
University of Minnesota Medical Center
2018
Echinoderm microtubule-associated proteinlike 4-anaplastic lymphoma kinase (EML4-ALK) gene fusions are detected in 3% to 13% of non-small cell lung carcinomas. Accurate testing for detection EML4-ALK is essential appropriate therapy selection.To compare reverse transcription-polymerase chain reaction (RT-PCR), immunohistochemistry (IHC), and fluorescence situ hybridization (FISH) methodologies fusions.Forty-six pulmonary adenocarcinomas were selected with enrichment wild-type epidermal...
To characterize the types of genetic abnormalities and their prevalence in early pregnancy loss at different developmental stages. We hypothesized that would differ across stages.Women with a < 20 weeks' gestation (n = 86) were enrolled time diagnosis. Maternal tissue without fetal component was found 13 samples. Chromosomal microarray analysis (CMA) performed on 74 samples (including two from twin pregnancy); 15 pre-embryonic (no visible embryo ultrasound examination), 31 embryonic (embryo;...
Acute myeloid leukemia (AML) can be subtyped based on recurrent cytogenetic and molecular genetic abnormalities with diagnostic prognostic significance. Although characterization classically involves conventional chromosome and/or fluorescence in situ hybridization (FISH) assays, limitations of these techniques include poor resolution the inability to precisely identify breakpoints.We evaluated whether an NGS-based methodology that detects structural copy number changes using mate pair...
Primary aneurysmal bone cyst (ABC) is a benign multiloculated cystic lesion of that defined cytogenetically by USP6 gene rearrangements. Rearrangements involving are promoter swaps, usually generated fusion the noncoding upstream exons different partner genes with exon 1 or 2 USP6, thus leading to transcriptional upregulation full-length coding sequence. Testing for rearrangements used diagnostically distinguish it from secondary ABC and other giant cell-rich primary tumors. In this report,...
Molecular genotyping by analysis of DNA microsatellites, also known as short tandem repeats (STRs), is an established method for diagnosing and classifying hydatidiform mole. Distinction both complete mole partial from nonmolar specimens relevant clinical management owing to differences in risk persistent gestational trophoblastic disease.To determine the technical performance microsatellite using a commercially available multiplex assay, describe application additional methods confirm other...
Esophageal adenocarcinoma (EAC) has a poor prognosis and is increasing in incidence many Western populations. Neoadjuvant chemoradiation therapy (CRT) followed by surgery increasingly the standard of care for locally advanced EAC; however, resistance to treatment significant clinical problem. The identification both novel biomarkers predicting response therapeutic targets enhance efficacy CRT key improving survival rates EAC. In this study, we performed global microRNA (miRNA) profiling...
DNA copy number variation is associated with genetic disorders and cancer. Available methods to discern in are typically costly, slow, require specialized equipment, and/or lack precision.Multiplex PCR different primer pairs limiting deoxynucleotide triphosphates (dNTPs) (3-12 μmol/L) were used for relative quantification assessment. Small products (50-121 bp) designed 1 melting domain, well-separated Tms, minimal internal sequence variation, no common homologs. displayed as curves on...
Routine application of PD-L1 immunohistochemistry (IHC) in colorectal cancer (CRC) is limited due to lack standardized scoring criteria, antibody clones, and intratumoral staining heterogeneity. We assessed protein expression on full face CRC tissue sections applied two algorithms based the published clinical trials that support recent FDA approval for immune checkpoint inhibitors (ICPI) therapy non-small cell lung (NSCLC).PD-L1/CD274 IHC (Roche/Ventana, clone SP142) was performed...
Lung cancer histologic diagnosis is clinically relevant because there are histology-specific treatment indications and contraindications. Histologic can be challenging owing to tumor characteristics, it has been shown have less-than-ideal agreement among pathologists reviewing the same specimens. Microarray profiling studies using frozen specimens that histologies exhibit different gene expression trends; however, not amenable routine clinical application. Herein, we developed a...
HER2 positive (HER2+) breast cancers involve chromosomal structural alterations that act as oncogenic driver events. We interrogated the genomic structure of 18 clinically-defined HER2+ tumors through integrated analysis whole genome and transcriptome sequencing, coupled with clinical information. ERBB2 overexpression in 15 these was associated amplification due to chromoanasynthesis six them containing single events other nine exhibiting multiple Two more complex cases had adverse outcomes....
ABSTRACT Objective Chromosome analysis is the traditional method for detecting genetic abnormalities in products of conception, but it prone to a high failure rate because requirement cell culture. Molecular tests do not require culture, are either more expensive (e.g. chromosomal microarray) or less sensitive than chromosome fluorescence situ hybridization, multiplex ligation mediated amplification). The KaryoLite™ BACs‐on‐Beads™ (KL‐BoBs™) assay highly multiplexed with low resolution...
Dissection of specific Areas Of Interest (AOIs) slide-mounted tumor samples is often used to enrich for cancer cells in order generate better signal noise ratios subsequent biochemical characterization. Most clinical laboratories utilize manual dissection practical reasons and avoid the expense difficulties laser microdissection systems. Unfortunately, methods lack resolution process documentation. The goal this project was design a system tissue with precision than that also provides...
Context.—In 2013 the American Society of Clinical Oncology and College Pathologists updated HER2 guidelines changed equivocal category for in situ hybridization testing to an average copy number 4.0 5.9 with a HER2:CEP17 ratio less than 2.0 proposed retesting, option using another control probe avoid false-negative results. RAI1, located at band position 17p11.2, is popular alternate locus retesting changes. Objective.—To review experience RAI1 fluorescence breast cancers. Design.—Primary...
The accurate diagnosis of a juvenile granulosa cell tumor (JGCT) can be challenging, as these neoplasms often exhibit morphologic features that overlap other ovarian neoplasms. In addition, the immunohistochemical profile exhibited by JGCT is fairly nonspecific and typically includes reactivity for CD99. Recently, we noted JGCTs show expression Fli-1, transcription factor expressed Ewing sarcoma, neoplasm occasionally in differential JGCT. We evaluated series to determine whether Fli-1...