A5014010589- Cancer Genomics and Diagnostics
- Sarcoma Diagnosis and Treatment
- Genomics and Rare Diseases
- Endometriosis Research and Treatment
- Genetics, Bioinformatics, and Biomedical Research
- RNA modifications and cancer
- Congenital Diaphragmatic Hernia Studies
- Neonatal Respiratory Health Research
- Uterine Myomas and Treatments
- Immunodeficiency and Autoimmune Disorders
- Endometrial and Cervical Cancer Treatments
- Peptidase Inhibition and Analysis
- Protein Tyrosine Phosphatases
- Chromatin Remodeling and Cancer
- Neuroblastoma Research and Treatments
- Pregnancy and preeclampsia studies
- Medical Imaging and Pathology Studies
- PI3K/AKT/mTOR signaling in cancer
- Cancer Immunotherapy and Biomarkers
- Immune Cell Function and Interaction
- Ovarian cancer diagnosis and treatment
- Signaling Pathways in Disease
- Cancer-related Molecular Pathways
- Genetic factors in colorectal cancer
- Occupational and environmental lung diseases
University of British Columbia
2015-2025
University of Ulsan
2025
Asan Medical Center
2022-2025
Ulsan College
2025
Memorial Sloan Kettering Cancer Center
2025
Children's & Women's Health Centre of British Columbia
2014-2024
British Columbia Children's Hospital
2019-2024
University of Manitoba
2021
Vancouver Coastal Health Research Institute
2020
Vancouver Coastal Health
2020
Germline truncating mutations in DICER1, an endoribonuclease the RNase III family that is essential for processing microRNAs, have been observed families with pleuropulmonary blastoma-family tumor and dysplasia syndrome. Mutation carriers are at risk nonepithelial ovarian tumors, notably sex cord-stromal tumors.We sequenced whole transcriptomes or exomes of 14 tumors noted closely clustered region DICER1 encoding IIIb domain four samples. We then this additional certain other queried effect...
A variety of immunohistochemical (IHC) stains have been proposed to mark either benign or malignant mesothelial proliferations. Loss the p16 tumor suppressor (CDKN2A), through homozygous deletions 9p21, is a good marker mesotheliomas but lacks sensitivity. Recent reports indicate that some are associated with loss BRCA-associated protein 1 (BAP1) expression. Here we investigate BAP1 and as potential markers malignancy compare test characteristics previously using well-characterized tissue...
Abstract Mutation of the ARID1A gene and loss corresponding protein BAF250a has recently been described as a frequent event in clear cell endometrioid carcinomas ovary. To determine whether is common other malignancies, immunohistochemistry (IHC) for was performed on tissue microarrays (TMAs) more than 3000 cancers, including breast, lung, thyroid, endometrium, kidney, stomach, oral cavity, cervix, pancreas, colon rectum, well endometrial stromal sarcomas, gastrointestinal tumours, sex...
Early trials for immune checkpoint inhibitors in sarcomas have delivered mixed results, and efforts to improve outcomes now look combinatorial strategies with novel immunotherapeutics, including some that target macrophages. To enhance our understanding of the sarcoma landscape, we quantified characterized tumor-associated macrophage infiltration expression targetable macrophage-related CD47/SIRPα across types. We surveyed immunohistochemical CD68, CD163, CD47, SIRPα tissue microarrays 1242...
Abstract STUDY QUESTION Does incisional endometriosis (IE) harbor somatic cancer-driver mutations? SUMMARY ANSWER We found that approximately one-quarter of IE cases somatic-cancer mutations, which commonly affect components the MAPK/RAS or PI3K-Akt-mTor signaling pathways. WHAT IS KNOWN ALREADY Despite classification as a benign gynecological disease, it shares key features with cancers such resistance to apoptosis and stimulation angiogenesis is well-established precursor clear cell...
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...
Here, we show that the p53 family member, p73, is necessary for survival and long-term maintenance of CNS neurons, including postnatal cortical neurons. In p73-/- animals, neuron number normal at birth but decreases significantly by day 14 (P14)-P16 because enhanced apoptosis. This decrease continues into adulthood, when animals have approximately one-half as many cells their wild-type littermates. Cortical neurons express DeltaNp73alpha protein, overexpression DeltaNp73 isoforms rescues...
Background Information is evolving on liver disease in pediatric patients with Fontan physiology. The purpose of this investigation to evaluate the spectrum a population physiology and transient elastography ( TE ) as noninvasive marker disease. Methods Results We prospectively enrolled all children All underwent comprehensive evaluation including enzymes (alanine aminotransferase, aspartate gamma‐glutamyl transferase, alkaline phosphatase), transaminase platelet ratio index, albumin,...
Abstract The role for routine whole genome and transcriptome analysis (WGTA) poor prognosis pediatric cancers remains undetermined. Here, we characterize somatic mutations, structural rearrangements, copy number variants, gene expression, immuno-profiles germline cancer predisposition variants in children adolescents with relapsed, refractory or malignancies who underwent WGTA matched sequencing. Seventy-nine participants a median age at enrollment of 8.8 y (range 6 months to 21.2 y) are...
The serum tumour markers (STMs) β-HCG, alphafetoprotein (AFP) and lactate dehydrogenase (LDH) are used for the diagnosis, treatment surveillance of patients with germ cell tumours (GCTs). However, many normal STMs harbour viable disease. Although circulating microRNAs (miRNAs) a potentially more sensitive specific marker [1], there is lack consensus regarding ideal method collecting measuring miRNA levels, particularly on whether patient's peripheral blood or plasma should be utilised. While...
Mutations in the T‐box transcription factor TBX4 gene have been reported patients with Ischiocoxopodopatellar syndrome (MIM# 147891) and childhood‐onset pulmonary arterial hypertension. Whole exome sequencing of DNA from a 1 day old deceased newborn, severe diffuse developmental lung disorder exhibiting features acinar dysplasia, her unaffected parents identified de novo missense mutation p.E86Q (c.256G>C) DNA‐binding domain. We propose phenotypic expansion ‐related clinical disease...
The clinical phenotype of somatic mutations in endometriosis is unknown. objective was to determine whether KRAS were associated with greater disease burden (i.e. more severe subtypes and higher stage). This prospective longitudinal cohort study included 122 subjects undergoing surgery at a tertiary referral center between 2013 2017, 5-9 years follow-up. Somatic activating codon 12 detected lesions using droplet digital PCR. mutation status for each subject coded as present (KRAS least one...
Purpose To investigate the relationship between nocturnal blood pressure (BP) dip and parapapillary choroidal vessel density (pCVD) in patients with normal-tension glaucoma (NTG) Methods This study analyzed 267 eyes of untreated NTG who underwent 24-hour (h) intraocular (IOP) ambulatory BP monitoring habitual position. Patients were classified into 3 groups [non-dippers (nocturnal < 10%), dippers 10% 20%, over-dippers > 20%)], pCVDs measured by using optical coherence tomography...
ABSTRACT We report a case of male fetus with early‐onset macrosomia and pathogenic variant in PTEN identified on macrocephaly overgrowth sequencing panel. The pregnancy ended at 25 weeks gestation. On post‐mortem examination, was confirmed, maturation the brain approximately 3 ahead that visceral organs. There microscopic evidence gonadoblastoid dysplasia, which is an extremely rare finding has never been associated hamartoma tumor syndrome (PHTS). To our knowledge, this first prenatal...
Nerve growth factor (NGF) mediates the survival and differentiation of neurons by stimulating tyrosine kinase activity TrkA/NGF receptor. Here, we identify SHP-1 as a phosphotyrosine phosphatase that negatively regulates TrkA. formed complexes with TrkA at Y490, dephosphorylated it Y674/675. Expression in sympathetic induced apoptosis dephosphorylation. Conversely, inhibition endogenous dominant-inhibitory mutant stimulated basal phosphorylation TrkA, thereby promoting NGF-independent...
Small cell osteosarcoma and mesenchymal chondrosarcoma are 2 primary bone tumors with a small round blue component, which can mimic the appearance of Ewing sarcoma. Distinguishing these from each other on biopsy material is important clinically, as optimal therapy differs according to tumor type. However, separating entities morphology alone be challenging. FLI-1 has been described useful marker for sarcoma, particularly when hematolymphoid markers negative. In chondrosarcoma, staining...
Distinguishing malignant mesotheliomas from benign mesothelial proliferations on hematoxylin and eosin-stained sections can be extremely challenging. Various immunohistochemical stains have been suggested to help in making this distinction, but all are controversial. Recently, IMP3 (insulin-like growth factor II mRNA binding protein 3) GLUT-1 (glucose transporter 1) proposed as markers that positive not proliferations. We evaluated the performance of these a tissue microarray containing 30...
The programmed death-1 (PD-1) pathway of immune evasion is exploited by many malignancies to limit host T-cell-mediated responses. Nivolumab a PD-1-blocking monoclonal antibody that disrupts this and FDA approved for the treatment metastatic melanoma, renal cell carcinoma, squamous non-small lung cancer. In case report, we describe first published pediatric experience nivolumab in refractory classic Hodgkin lymphoma. patient with primary disease high burden, cytokine release syndrome...
The p53 family member, p73, is essential for the survival of sympathetic neurons during developmental period naturally occurring neuronal death. Here, we have asked whether ΔNp73, which only p73 isoform expressed in neurons, mediates this by p53-dependent and/or p53-independent mechanisms. Initially, used a genetic approach and crossed +/- mice. Quantitation superior cervical ganglion cell death revealed that loss partially rescued seen -/- animals. Moreover, exogenous expression ΔNp73...
Abstract Poorly differentiated chordoma (PDC) is a recently recognized subtype of characterized by expression the embryonic transcription factor, brachyury, and loss INI1. PDC primarily affects children associated with poor prognosis limited treatment options. Here we describe molecular immune tumour microenvironment profiles two paediatric PDCs produced using whole-genome, transcriptome whole-genome bisulfite sequencing (WGBS) multiplex immunohistochemistry. Our analyses revealed presence...