A5100660046- Lung Cancer Diagnosis and Treatment
- Lung Cancer Treatments and Mutations
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Thyroid Cancer Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Lung Cancer Research Studies
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Radiomics and Machine Learning in Medical Imaging
- Genomics and Rare Diseases
- Biomedical Text Mining and Ontologies
- Medical Imaging and Pathology Studies
- Head and Neck Anomalies
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Esophageal Cancer Research and Treatment
- Tracheal and airway disorders
- Sarcoidosis and Beryllium Toxicity Research
- Milk Quality and Mastitis in Dairy Cows
- Occupational and environmental lung diseases
- Mycobacterium research and diagnosis
- Inflammasome and immune disorders
- Cancer-related molecular mechanisms research
- Inhalation and Respiratory Drug Delivery
- Immune cells in cancer
Zhongnan Hospital of Wuhan University
2023-2025
Wuhan University
2023-2025
Jiangsu University
2025
Affiliated Hospital of Jiangsu University
2025
Veracyte (United States)
2015-2024
Guangdong Polytechnic of Science and Technology
2024
National Taiwan University of Science and Technology
2024
Hangzhou Medical College
2023-2024
Huzhou University
2024
Guangxi Maternal and Child Health Hospital
2024
<h3>Importance</h3> Use of next-generation sequencing RNA and machine learning algorithms can classify the risk malignancy in cytologically indeterminate thyroid nodules to limit unnecessary diagnostic surgery. <h3>Objective</h3> To measure performance a genomic classifier for nodules. <h3>Design, Setting, Participants</h3> A blinded validation study was conducted on set collected by fine-needle aspiration biopsy between June 2009 December 2010 from 49 academic community centers United...
Usual interstitial pneumonia (UIP) is the histopathologic hallmark of idiopathic pulmonary fibrosis. Although UIP can be detected by high-resolution computed tomography chest, results are frequently inconclusive, and pathology from transbronchial biopsy (TBB) has poor sensitivity. Surgical lung may necessary for a definitive diagnosis.To develop genomic classifier in tissue obtained TBB that distinguishes non-UIP, trained against central as reference standard.Exome enriched RNA sequencing...
Rationale: Usual interstitial pneumonia (UIP) is the defining morphology of idiopathic pulmonary fibrosis (IPF). Guidelines for IPF diagnosis conditionally recommend surgical lung biopsy histopathology UIP when radiology and clinical context are not definitive. A "molecular UIP" in transbronchial biopsy, Envisia Genomic Classifier, accurately predicted histopathologic UIP.Objectives: We evaluated combined accuracy Classifier local detection pattern.Methods: Ninety-six patients who had...
Introduction: The Afirma® Xpression Atlas (XA) detects gene variants and fusions in thyroid nodule FNA samples from a curated panel of 511 genes using whole-transcriptome RNA-sequencing. Its intended use is among cytologically indeterminate nodules that are Afirma GSC suspicious, Bethesda V/VI nodules, or known metastases. Here we report its analytical clinical validation. Methods: DNA RNA were purified the same sample across 943 blinded FNAs compared by multiple methodologies, including...
Abstract Visually normal cells adjacent to, and extending from, tumors of the lung may carry molecular alterations characteristics tumor itself, an effect referred to as airway field cancerization. This has been postulated a model for early events in cancer pathogenesis. Yet genomic landscape somatically acquired epithelia patients remained unknown. To begin fill this void, we sought comprehensively characterize architecture chromosomal inducing allelic imbalance (AI) most common type...
Thyroid carcinomas are known to harbor oncogenic driver mutations and advances in sequencing technology now allow the detection of these fine needle aspiration biopsies (FNA). Recent work by The Cancer Genome Atlas (TCGA) Research Network has expanded number genetic alterations detected papillary thyroid (PTC). We sought investigate prevalence other diverse subtypes nodules beyond PTC, including a variety samples with benign histopathology. This is first clinical evaluation large panel...
Background: Cytopathological evaluation of thyroid fine-needle aspiration biopsy (FNAB) specimens can fail to raise preoperative suspicion medullary carcinoma (MTC). The Afirma RNA-sequencing MTC classifier identifies among FNA samples that are cytologically indeterminate, suspicious, or malignant (Bethesda categories III-VI). In this study we report the development and clinical performance classifier. Methods: Algorithm training was performed with a set 483 FNAB (21 462 non-MTC). A support...
We developed a classifier using RNA sequencing data that identifies the usual interstitial pneumonia (UIP) pattern for diagnosis of idiopathic pulmonary fibrosis. addressed significant challenges, including limited sample size, biological and technical heterogeneity, reagent assay batch effects.We identified inter- intra-patient particularly within non-UIP group. The models classified UIP on transbronchial biopsy samples with receiver-operating characteristic area under curve ~ 0.9 in...
Identification of Hürthle cell cancers by non-operative fine-needle aspiration biopsy (FNAB) thyroid nodules is challenging. Resultingly, non-cancerous lesions were conventionally distinguished from histopathological examination tissue following surgical resection. Reliance on evaluation requires patients to undergo surgery obtain a diagnosis despite most being non-cancerous. It highly desirable avoid and provide accurate classification benignity versus malignancy FNAB preoperatively. In our...
Rationale: The diagnosis of idiopathic pulmonary fibrosis (IPF) remains challenging and can result in delayed or misdiagnosis. IPF is based on the presence either a radiographic histologic usual interstitial pneumonia (UIP) pattern absence an identifiable etiology. Envisia Genomic Classifier clinically validated molecular diagnostic test that identifies UIP transbronchial biopsies. Objectives: To determine impact physicians' clinical decision-making management IPF. Methods: This prospective...
Clinical guidelines specify that diagnosis of interstitial pulmonary fibrosis (IPF) requires identification usual pneumonia (UIP) pattern. While UIP can be identified by high resolution CT the chest, results are often inconclusive, making surgical lung biopsy necessary to reach a definitive (Raghu et al., Am J Respir Crit Care Med 183(6):788-824, 2011). The Envisia genomic classifier differentiates from non-UIP pathology in transbronchial biopsies (TBB), potentially allowing patients avoid...
Background: Fine needle aspiration (FNA) cytology, a diagnostic test central to thyroid nodule management, may yield indeterminate results in up 30% of cases. The Afirma® Genomic Sequencing Classifier (GSC) was developed and clinically validated utilize genomic material obtained during the FNA accurately identify benign nodules among those deemed cytologically so that surgery can be avoided. A key question for tests is their robustness under different perturbations occur lab. Herein, we...
Abstract Context Telomerase reverse transcriptase (TERT) promoter-mutated thyroid cancers are associated with a decreased rate of disease-free and disease-specific survival. High-quality analytical validation diagnostic test promotes confidence in the results that inform clinical decision-making. Objective This work aimed to demonstrate Afirma TERT promoter mutation assay. Methods C228T C250T variant detection genomic DNA (gDNA) was analyzed by assessing variable input limit (LOD) allele...
Abstract Background Malformations of cortical development (MCD) are a group congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play key role etiology MCD. Currently, there is no curative treatment for Phenotypes such as epilepsy cerebral palsy cannot be observed fetus. Therefore, diagnosis MCD typically based on fetal magnetic resonance...
Bronchoscopy is frequently used for the evaluation of suspicious pulmonary lesions found on computed tomography, but its sensitivity detecting lung cancer limited. Recently, a bronchial genomic classifier was validated to improve bronchoscopy detection, demonstrating high and negative predictive value among patients at intermediate risk (10–60 %) with an inconclusive bronchoscopy. Our objective this study determine if result that down-classifies patient from low (<10 would reduce rate...
Abstract Background Bronchoscopy for suspected lung cancer has low diagnostic sensitivity, rendering many inconclusive results. The Bronchial Genomic Classifier (BGC) was developed to help with patient management by identifying those risk of when bronchoscopy is inconclusive. BGC trained and validated on patients in the Airway Epithelial Gene Expression Diagnosis Lung Cancer (AEGIS) trials. A modern cohort, Registry, showed differences key clinical factors from AEGIS cohorts, less smoking...