A5027502095- Glioma Diagnosis and Treatment
- Cancer, Hypoxia, and Metabolism
- Cancer Genomics and Diagnostics
- Radiomics and Machine Learning in Medical Imaging
- Sarcoma Diagnosis and Treatment
- Ocular Oncology and Treatments
- MicroRNA in disease regulation
- Neurofibromatosis and Schwannoma Cases
- Prostate Cancer Treatment and Research
- Brain Metastases and Treatment
- Neuroblastoma Research and Treatments
- Meningioma and schwannoma management
- Epigenetics and DNA Methylation
- Histiocytic Disorders and Treatments
- Cancer-related molecular mechanisms research
- Chromatin Remodeling and Cancer
- Hereditary Neurological Disorders
- Vascular Tumors and Angiosarcomas
- Histone Deacetylase Inhibitors Research
- Genomics and Rare Diseases
- Lung Cancer Treatments and Mutations
- Peripheral Nerve Disorders
- BRCA gene mutations in cancer
- Genetic Neurodegenerative Diseases
- Ferroptosis and cancer prognosis
Mayo Clinic
2014-2025
Mayo Clinic in Arizona
2013-2025
Mayo Clinic in Florida
2019-2023
University of Minnesota Rochester
2015-2022
Dell Children's Medical Center of Central Texas
2019
University of North Carolina at Chapel Hill
2018
University of Washington
2015
Salmaniya Medical Complex
2015
WinnMed
2013
Universidade de São Paulo
2009
Abstract Prognostic significance of histological anaplasia and BRAF V600E mutation were retrospectively evaluated in 74 patients with pleomorphic xanthoastrocytoma ( PXA ). Median age at diagnosis was 21.5 years (31 pediatric, 43 adult) median follow‐up 7.6 years. Anaplasia ‐ AF ), defined as mitotic index ≥ 5/ 10HPF and/or presence necrosis, present 33 cases. detected 39 (of 60) cases by immunohistochemical molecular analysis, all negative for IDH1 R132H Mitotic necrosis associated...
Establishing causal links between inherited polymorphisms and cancer risk is challenging. Here, we focus on the single-nucleotide polymorphism rs55705857, which confers a sixfold greater of isocitrate dehydrogenase (
Background: Clinical trials of anti-Aβ monoclonal antibodies in Alzheimer disease (AD) infer target engagement from Aβ positron emission tomography (PET) and/or fluid biomarkers such as cerebrospinal (CSF) Aβ42/40.However, these measure deposits indirectly incompletely.In contrast, postmortem neuropathologic assessments allow direct investigation treatment effects on brain and many other pathologic features.Methods: From a clinical trial dominantly inherited AD, we measured...
Abstract Diffuse midline glioma, H3 K27-altered (DMG-H3 K27) is an aggressive group of diffuse gliomas that predominantly occurs in pediatric patients, involves structures, and displays loss p.K28me3 (K27me3) expression by immunohistochemistry characteristic genetic/epigenetic profile. Rare examples a glioma with p.K28M (K27M) mutation without involvement the so-called “diffuse hemispheric mutation” (DHG-H3 K27), have been reported. Herein, we describe 2 additional cases radiologically...
Abstract Background Glioblastoma (GBM) represents an aggressive cancer type with a median survival of only 14 months. With fewer than 5% patients surviving 5 years, comprehensive profiling these rare could elucidate prognostic biomarkers that may confer better patient outcomes. We utilized multiple molecular approaches to characterize the largest cohort isocitrate dehydrogenase (IDH)–wildtype GBM long-term survivors (LTS) date. Methods Retrospective analysis was performed on 49 archived...
High frequencies of the BRAF V600E mutation have been reported in pleomorphic xanthoastrocytoma (PXA). Recently, a mutation-specific antibody has developed and validated. We evaluated immunohistochemical (IHC) detection PXA by comparing to gold standard molecular analysis investigating interobserver variability IHC scoring. performed 46 cases, which 37 (80%) cases had sufficient tumor tissue for analysis. was using monoclonal mouse VE1 (Spring Bioscience). slides were scored independently...
Primary high-grade infiltrating gliomas of the spinal cord are rare, with prior series including limited numbers cases and reporting poor outcomes. Additionally, molecular profile has not been well characterized. We identified 13 adult patients whose surgery had performed at our institution over a 26-year-period. Radiologically, nine harbored regions post-contrast enhancement. Existing slides were reviewed, when sufficient tissue was available, immunohistochemical stains (IDH1-R132H,...
Abstract PURPOSE: Monitoring disease progression in patients with high-grade gliomas (HGGs) is challenging due to treatment-related changes on imaging and the requirement for neurosurgical intervention obtain diagnostic tissue. DNA junctions HGGs often amplify oncogenes, making these fragments potentially more abundant blood than monoallelic mutations. Herein, we piloted a cell-free approach detection plasma of by leveraging patient-specific associated oncogene amplifications. EXPERIMENTAL...
Journal Article Expanding the spectrum of TERT promoter mutations in CNS tumors: A case series non-canonical Get access David J Cook, MD, MD Department Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States https://orcid.org/0009-0007-6196-4179 Search for other works by this author on: Oxford Academic PubMed Google Scholar Jorge Trejo-Lopez, Beth Pitel, MS, MS Neiladri Saha, Quantitative Health Sciences, Tejaswi Koganti, Jayson Hardcastle, PhD, PhD Stephanie Smoley,...
Abstract The objective of this study was to assess the relationship tumor protein levels TOP2A and MIB-1 ERG status with cancer-specific outcomes in men high-risk prostate cancer treated by radical prostatectomy (RP). A 150-pair case-control designed from RP patients who developed systemic progression (SP) within 6 years (cases) were free disease at least 8 after (controls). cases controls matched on conventional prognostic clinical parameters. assessed immunohistochemical methods,...
Primary schwannoma of the bone, defined as arising within medullary cavity and radiologically mimicking more common primary bone tumors, is rare. We present 17 13 conventional schwannomas, 4 melanotic type. Collectively, they represented <1% all tumors seen at Mayo Clinic over a 33-year period. Most affected long bones. There was slight female predilection. Fifteen were sporadic, 2 syndrome associated (Carney complex). Pain most symptom. Given their rarity, schwannomas are not usually...
In Brief Gout is a painful inflammatory arthropathy caused by crystallization of monosodium urate within the joints. We present case patient with primary gout who had positive results joint aspiration and synovial biopsy for crystals in third metacarpophalangeal but false-negative dual-energy computed tomography. Although DECT very promising likely to be specific MSU deposition this microscopic crystal proof may have too few detection.
Cerebellar low-grade astrocytomas with a diffuse pattern of growth are uncommon, comprising World Health Organization (WHO) grade II (DA) and minority WHO I pilocytic (PA), so-called PA, "diffuse variant." Among 106 cerebellar (WHO II) operated on at the Mayo Clinic (1984–2010), we identified 19 such cases: 8 variant," 5 DA, 6 that were unable to classify further (low-grade astrocytomas, subtype indeterminate). We characterized these tumors using immunohistochemistry currently available...
Abstract Background Oligodendroglioma is genetically defined by concomitant IDH (IDH1/IDH2) mutation and whole-arm 1p/19q codeletion. Codeletion of traditionally evaluated fluorescence in situ hybridization (FISH) cannot distinguish partial from Partial codeletion called positive FISH diagnostically a “false-positive” result. Chromosomal microarray (CMA) discriminates Herein, we aimed to estimate the frequency that would lead false-positive Methods test probe coordinates were mapped onto...
Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently described epileptogenic characterized by oligodendroglioma-like components, aberrant CD34 expression, and frequent mitogen-activated protein kinase (MAPK) pathway activation. We molecularly profiled 13 cases with diagnostic histopathological features PLNTY (10 female; median age, 16 years; range, 5-52). Patients frequently presented seizures (9 12 available history) temporal lobe tumors 13). MAPK activating...
Adipose tissue tumors of the retroperitoneum showing no identifiable cytologic atypia are usually classified as lipomalike well-differentiated liposarcoma. Whether a subset these represents true examples retroperitoneal lipoma remains controversial subject, because diagnostic liposarcoma cells may be difficult identification, even after extensive sampling. Herein, we describe large with classic histopathologic, cytogenetic, molecular and genetic features. Extensive morphologic inspection...
Hypoxia has been associated with malignant progression, metastasis and resistance to therapy. Hence, we studied expression of hypoxia–regulated genes in 100 prostate cancer (CaP) bulk tissues 71 adjacent benign tissues. We found 24 transcripts significantly overexpressed (p≤0.02). Importantly, higher transcript levels disc large (drosophila) homolog-associated protein 5 (DLGAP5)/discs homolog 7 (DLG7)/hepatoma up-regulated (HURP), hyaluronan-mediated motility receptor (HMMR) cyclin B1...
Amplification of a CAG trinucleotide motif (CTG18.1) within the TCF4 gene has been strongly associated with Fuchs Endothelial Corneal Dystrophy (FECD). Nevertheless, small minority clinically unaffected elderly patients who have expanded CTG18.1 sequences identified. To test hypothesis that expansions in these are protected from FECD because they interruptions repeats, we utilized combination an amplification-free, long-read sequencing method and new target-enrichment sequence analysis tool...
Abstract MAPK pathway activation has been recurrently observed in desmoplastic infantile ganglioglioma/astrocytoma (DIG/DIA) with reported disproportionally low mutation allele frequencies relative to the apparent high tumor content, suggesting that alterations may be subclonal. We sought expand number of molecularly profiled cases and investigate if cell composition could account for frequencies. Molecular (targeted neuro-oncology next-generation sequencing/RNA sequencing OncoScan...
Posterior fossa (PF) diffuse gliomas in pediatric patients frequently harbor the H3 K27M mutation. Among adults, PF are rare, with limited data regarding molecular features and clinical outcomes. We identified 28 adult glioma (17 males; median: 50 y, range: 19 to 78 y), surgery performed at our institution (13 brainstem; 15 cerebellum). Histologic subtypes included anaplastic astrocytoma (n=21), glioblastoma (n=6), (n=1). Immunohistochemistry was for (n=26), IDH1-R132H (n=28), ATRX (n=28). A...