BACKGROUND: The thoracic small biopsy sampling procedure including transbronchial forceps lung biopsy (TBLB) and endobronchial ultrasound transbronchial needle aspiration (EBUS-TBNA) can be accompanied by rapid on-site evaluation (ROSE) of sample material to provide immediate feedback for the proceduralist. The present study aims to investigate the supplemental effect of ROSE smear samples for lung cancer molecular test. METHODS: In a retrospective study, 308 patients admitted to our hospital from August 2020 to December 2022 undergoing diagnostic TBLB and EBUS-TBNA with ROSE and subsequently diagnosed as non-small cell lung cancer (NSCLC) were analyzed. The matched formalin-fixed paraffin-embedding (FFPE) tissue section and ROSE smears for tumor cellularity were compared. DNA yields of smears were determined. Real-time polymerase chain reaction (PCR) and next-generation sequencing (NGS) were performed on adequate smear samples. RESULTS: ROSE smear samples were enriched in tumor cells. Among 308 biopsy samples, 78 cases (25.3%) exhibited inadequate FFPE tissue sections, whereas 44 cases (14.3%) yielded adequate smear samples. Somatic mutations detected in the FFPE tissue section samples were also detected in the matching adequate smear sample. CONCLUSIONS ROSE smear samples of the thoracic small biopsies are beneficial supplemental materials for ancillary testing of lung cancer. Combined use of cytology smear samples with traditional FFPE section samples can enhance the detection rate of informative mutations in patients with advanced NSCLC. We recommend that the laboratory could further evaluate the ROSE cell smears of the patient when FFPE tissue sections are inadequate, and that adequate cell smears can be used as a supplemental source for the molecular testing of NSCLC.
Humans ; Carcinoma, Non-Small-Cell Lung/pathology* ; Lung Neoplasms/pathology* ; Rapid On-site Evaluation ; Retrospective Studies ; Molecular Diagnostic Techniques ; Endoscopic Ultrasound-Guided Fine Needle Aspiration/methods*

Humans ; Child ; Communicable Diseases/therapy* ; Molecular Diagnostic Techniques ; Genetic Testing

Bone Neoplasms/genetics* ; Consensus ; Humans ; Molecular Diagnostic Techniques ; Pathology, Molecular ; Soft Tissue Neoplasms/pathology*

Objective: To assess the value of cyclin D1 immunocytochemistry combined with a small panel molecular analysis in indeterminate cytological diagnosis of Bethesda category Ⅲ-Ⅴ. Methods: A consecutive cohort of 96 thyroid FNA specimens with indeterminate diagnosis (TBSRTC category Ⅲ-Ⅴ) and available histopathologic follow-up data were collected between December 2018 and December 2021 in Department of Pathology, Beijing Hospital. The cases were evaluated by cyclin D1 immunocytochemistry and molecular testing of BRAF^V600E or a small panel of markers (BRAF, N-RAS, H-RAS, K-RAS and TERT) in the FNA specimens. The identification of the optimal cut-off point of cyclin D1 for the diagnosis of malignancy was evaluated using the receiver operating characteristic (ROC) curves and the assessment of the area under the ROC curve (AUC). The specificity, sensitivity, positive predictive value (PPV) and negative predictive value (NPV) of all these markers were evaluated with the crosstabs and significance was calculated. Results: Ninty-six patients with 96 thyroid nodules were enrolled, including 42 cases of TBSRTC-III, 10 cases of TBSRTC-IV and 44 cases of TBSRTC-V. There were 79 females and 17 males with a median age of 47 years (range, 25 to 75 years). A 7.5% cut-off value for positive cyclin D1 nuclear immunostaining in thyroid cells demonstrated 100% PPV, 57.1% NPV, 81.0% sensitivity and 100% specificity for thyroid malignancy diagnosis. The sensitivity of the BRAF^V600E mutation test or combined with a small panel test alone for thyroid malignancy diagnosis were 65.5% and 69.0% respectively. The sensitivity for thyroid malignancy diagnosis increased to 94.0% and 95.2% respectively when combining the cyclin D1 immunocytochemistry with the molecular test, and the specificities remained 100% and 91.7% respectively.The accuracy of cyclin D1 immunocytochemistry combined with a small panel of molecular test in detecting thyroid malignancy increased to 94.8% compared to using these markers alone. Conclusions: The addition of cyclin D1 immunocytochemistry and a small panel of molecular testing to FNA cytology can increase the sensitivity and NPV of cytology in indeterminate categories, and this supplementary approach provides a simple, accurate and convenient diagnostic method for reducing unnecessary thyroidectomies.
Adult ; Aged ; Humans ; Middle Aged ; Biopsy, Fine-Needle ; Cyclin D1/genetics* ; Molecular Diagnostic Techniques ; Thyroid Nodule/genetics* ; Male ; Female

High-grade B-cell lymphoma with MYC and BCL2 and-or BCL6 rearrangements, also called double-hit lymphoma, is an aggressive mature B-cell lymphoma that carries both MYC and BCL2 and/or BCL6 translocations. This can present as a diagnostic challenge since clinical characteristics, morphology and immunophenotype are not accurate indicators of underlying genetic aberrations in this type of lymphoma. We report a case of a 25-year-old male who presented with a one-year history of cough, gradually increasing abdominal girth and jaundice. Definitive diagnosis was made post-mortem with additional ancillary studies using immunohistochemistry staining and fluorescent in-situ hybridization studies.
Lymphoma ; Lymphoma, B-Cell ; Molecular Diagnostic Techniques

Objective: To evaluate multidrug resistant loop-mediated isothermal amplification (MDR-LAMP) assay for the early diagnosis of multidrug-resistant tuberculosis and to compare the mutation patterns associated with the Methods: MDR-LAMP assay was evaluated using 100 Results: The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of MDR-LAMP were 85.5%, 93.6%, 96.7%, and 74.4% for the detection of resistance to isoniazid and rifampicin, respectively, and 80.5%, 92.3%, 98.6%, and 41.4% for the detection of Conclusion MDR-LAMP is a rapid and accessible assay for the laboratory identification of rifampicin and isoniazid resistance of
Antitubercular Agents ; Bacterial Proteins/genetics* ; Catalase/genetics* ; DNA, Bacterial/analysis* ; DNA-Directed RNA Polymerases/genetics* ; Drug Resistance, Multiple, Bacterial/genetics* ; Isoniazid ; Molecular Diagnostic Techniques/methods* ; Mutation ; Mycobacterium tuberculosis/isolation & purification* ; Nucleic Acid Amplification Techniques/methods* ; Oxidoreductases/genetics* ; Phenotype ; Rifampin ; Whole Genome Sequencing

A rapid and simple method to detect tumor markers in liver cancer was established by combining immunochromatography technique with fluorescent microsphere labeling. According to the principle of double antibody sandwich, the cytoskeleton-associated protein 4 (CKAP4) paired antibody was used as the labeled and coated antibody, and the goat anti-rabbit polyclonal antibody was used as the quality control line coated antibody in the preparation of the CKAP4 fluorescent immunochromatographic test strips. After the preparation, the test strips were evaluated on various performance indicators, such as linearity, precision and stability. The CKAP4 immunochromatographic strip prepared by time-resolved fluorescent microspheres had high sensitivity, and good specificity. Its precision was within 15%, recovery between 85% and 115%, and linear range between 25 and 1 000 pg/mL. The test strip could be kept stable at 37 °C for 20 days, and it correlated well with commercial ELISA kits. The CKAP4 fluorescence immunochromatography method can quantitatively detect the content of CKAP4 in serum. Furthermore, it is rapid, sensitive, simple, economical and single-person operation. This method has the potential of becoming a new method for the diagnosis and treatment of liver cancer.
Animals ; Antibodies ; metabolism ; Chromatography, Affinity ; Fluorescence ; Humans ; Liver Neoplasms ; diagnosis ; Membrane Proteins ; isolation & purification ; Molecular Diagnostic Techniques ; instrumentation ; methods ; Sensitivity and Specificity

In recent years, molecular diagnostics has been the most promising branch of
Humans ; Microfluidics ; Molecular Diagnostic Techniques/instrumentation* ; Pathology, Molecular/instrumentation*

Thirty years have passed since the Korean Association of Pediatric Allergy and Respiratory Disease was founded. There have been great changes in the pattern of respiratory diseases in Korean children during the last 30 years with economic development in the country. Pneumonia remains the leading cause of childhood morbidity, despite advances in the prevention and management. The incidence and mortality of pneumonia caused by typical bacterial pathogens have been reduced. However, the predominance of Mycoplasma pneumoniae or virus-associated diseases is emerging, which suggests that novel diagnostic and therapeutic strategies are needed. Viral bronchiolitis is one of the most substantial health burdens for infants and young children worldwide. Although respiratory syncytial virus is the most common pathogen, molecular diagnostic techniques have identified many other viruses including human rhinovirus causing bronchiolitis. Bronchiectasis is a chronic respiratory condition characterized by chronic infection, airway inflammation, and progressive lung function decline. Research into the interactions between early life respiratory infections and development of bronchiectasis is imperative to halt the disease in its origin and improve adult outcomes. Acute respiratory distress syndrome (ARDS) is a severe, life-threatening lung disease with diffuse inflammatory lung injury leading to pulmonary edema and hypoxia. Although many modalities to treat ARDS have been studied, supportive therapies and lung protective ventilator support remains the mainstay. This review focuses on the current trends in research on these childhood respiratory diseases through literature review and aims to investigate the impact of Korean study results in this field.
Adult ; Anoxia ; Bronchiectasis ; Bronchiolitis ; Bronchiolitis, Viral ; Child ; Economic Development ; Humans ; Hypersensitivity ; Incidence ; Infant ; Inflammation ; Korea* ; Lung ; Lung Diseases ; Lung Injury ; Molecular Diagnostic Techniques ; Mortality ; Mycoplasma pneumoniae ; Pneumonia ; Pneumonia, Mycoplasma ; Pulmonary Edema ; Respiratory Distress Syndrome, Adult ; Respiratory Syncytial Viruses ; Respiratory Tract Infections ; Rhinovirus ; Ventilators, Mechanical

Fine needle aspiration cytology is gold standard for diagnosis of thyroid nodule. However, it is not perfect and its results are cytologically indeterminate nodules (Bethesda classification III-V) in 15-30%, which remains diagnostic challenges. So, the method that provide information about cancer risk is necessary to establish management strategy. As results of studies about genetic changes in thyroid cancer, remarkable advances have been achieved in understanding thyroid carcinogenesis, which produced applications of molecular biomarkers and profiling panels for diagnosis of thyroid nodule. These tests help clinicians make decision regarding the need for surgery and the surgical extent. In this review, published researches related to molecular diagnosis of thyroid cancer are reviewed and performance of the diagnostic tests and its interpretation were discussed.
Biomarkers ; Biopsy, Fine-Needle ; Carcinogenesis ; Classification ; Diagnosis* ; Diagnostic Tests, Routine ; Genetic Testing ; Methods ; Molecular Diagnostic Techniques ; Thyroid Gland* ; Thyroid Neoplasms ; Thyroid Nodule*