Interlaboratory variability of HER2 fluorescence in situ hybridization testing in breast cancer: results of a multicenter proficiency-testing ring study in China.

Background: Accurate detection of human epidermal growth factor receptor 2 (HER2) gene amplification via fluorescence in situ hybridization (FISH) is necessary to determine HER2 status. Although many attempts have been made to increase the consistency of the results, the actual situation still needs to be determined. To investigate the latest interlaboratory variability of HER2 FISH testing for breast cancer, a multicenter proficiency-testing ring study was conducted in China.

Plasma concentrations of venetoclax and Pharmacogenetics correlated with drug efficacy in treatment naive leukemia patients: a retrospective study.

Venetoclax (VEN) was the only Bcl-2 inhibitor approved yet and showed large differences in clinical efficacy. The aim of the study was to explore the relationships between the plasma concentration and efficacy of VEN, and identify potential influencing factors. A retrospective cohort study was conducted and a total of 76 trough (C) and 91 6 h post-dose plasma concentration (C) blood concentrations of VEN were collected in 54 patients.

Interlaboratory consistency of promoter methylation detection in colorectal cancer using the post-optimized materials.

Fecal DNA-based Syndecan 2 () methylation detection is a promising non-invasive strategy for early colorectal cancer (CRC) screening. In China, commercial assays for methylation detection vary in sensitivity and specificity, yet there is no standardized external quality assessment (EQA) to ensure accuracy. This study utilized CRISPR-Cas9 and homology-directed repair (HDR) technologies to edit the promoter in 293T cells, creating hypermethylated and heterogeneous cell lines.

Ribosomal proteins in hepatocellular carcinoma: mysterious but promising.

Ribosomal proteins (RPs) are essential components of ribosomes, playing a role not only in ribosome biosynthesis, but also in various extra-ribosomal functions, some of which are implicated in the development of different types of tumors. As universally acknowledged, hepatocellular carcinoma (HCC) has been garnering global attention due to its complex pathogenesis and challenging treatments. In this review, we analyze the biological characteristics of RPs and emphasize their essential roles in HCC.

Key performance evaluation of commercialized multiplex rRT-PCR kits for respiratory viruses: implications for application and optimization.

Unlabelled: Respiratory tract infections (RTIs) caused by viruses are prevalent and significant conditions in clinical settings. Accurate and effective detection is of paramount importance in the diagnosis, treatment, and prevention of viral RTIs. With technological advancements, multiplex real-time reverse transcription polymerase chain reaction (rRT-PCR) assays have been developed and extensively adopted for the diagnosis of viral RTIs.

New practice of BCR::ABL1 standardization system based on p210 and p190 BCR::ABL1 reference materials.

Quantification of BCR::ABL1 monitors minimal residual disease, thus critical for patient stratification. While significant progress has been made in enhancing the accuracy of p210 BCR::ABL1 quantification, no equivalent standardization has been conducted for p190 BCR::ABL1. Therefore, we developed p190 BCR::ABL1 reference materials to calibrate the quantitative process through an innovative plasmid-based calibration strategy.

mTOR Signaling: Roles in Hepatitis B Virus Infection and Hepatocellular Carcinoma.

Currently, chronic hepatitis B virus infection is still one of the most serious public health problems in the world. Though current strategies are effective in controlling infection and slowing down the disease process, it remains a big challenge to achieve a functional cure for chronic hepatitis B in a majority of patients due to the inability to clear the cccDNA pool. The mammalian target of rapamycin (mTOR) integrates nutrition, energy, growth factors, and other extracellular signals, participating in gene transcription, protein translation, ribosome synthesis, and other biological processes.

Diagnostic performance of mpox virus (MPXV) real-time PCR assays: multicenter assessment and extended sensitivity analysis.

Purpose: To comprehensively investigate the diagnostic performance of routinely used assays in MPXV testing, the National Center of Clinical Laboratories in China conducted a nationwide external quality assessment (EQA) scheme and an evaluated nine assays used by ≥ 5 laboratories in the EQA.

Methods: MPXV virus-like particles with 2700, 900 and 300 copies/mL were distributed to 195 EQA laboratories. For extended analysis, triple-diluted samples from 9000 to 4.

Artificial intelligence in the clinical laboratory.

Laboratory medicine has become a highly automated medical discipline. Nowadays, artificial intelligence (AI) applied to laboratory medicine is also gaining more and more attention, which can optimize the entire laboratory workflow and even revolutionize laboratory medicine in the future. However, only a few commercially available AI models are currently approved for use in clinical laboratories and have drawbacks such as high cost, lack of accuracy, and the need for manual review of model results.

Harmonizing tumor mutational burden analysis: Insights from a multicenter study using in silico reference data sets in clinical whole-exome sequencing (WES).

Objectives: Tumor mutational burden (TMB) is a significant biomarker for predicting immune checkpoint inhibitor response, but the clinical performance of whole-exome sequencing (WES)-based TMB estimation has received less attention compared to panel-based methods. This study aimed to assess the reliability and comparability of WES-based TMB analysis among laboratories under routine testing conditions.

Methods: A multicenter study was conducted involving 24 laboratories in China using in silico reference data sets.

External quality assessment for molecular detection of Ureaplasma urealyticum in China.

Background And Aims: A pilot external quality assessment (EQA) scheme for molecular detection of Ureaplasma urealyticum (UU) was conducted by the National Center for Clinical Laboratories (NCCL) to evaluate the testing capabilities of clinical laboratories and the actual performance of DNA-based nucleic acid amplification tests (NAAT) and RNA-based NAATs when applied in clinical settings.

Materials And Methods: The EQA panel contained twelve lyophilized samples, including positive samples containing inactivated cell culture supernatants of UU at different concentrations and sterile saline for negative samples. The positive samples were further divided into three groups of high, moderate and low concentrations.

What makes SARS-CoV-2 unique? Focusing on the spike protein.

Severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) seriously threatens public health and safety. Genetic variants determine the expression of SARS-CoV-2 structural proteins, which are associated with enhanced transmissibility, enhanced virulence, and immune escape. Vaccination is encouraged as a public health intervention, and different types of vaccines are used worldwide.

Enhancing the quality of panel-based tumor mutation burden assessment: a comprehensive study of real-world and in-silico outcomes.

Targeted panel-based tumor mutation burden (TMB) assays are widely employed to guide immunotherapy for patients with solid tumors. However, the accuracy and consistency of this method can be compromised due to the variability in technical details across different laboratories, particularly in terms of panel size, somatic mutation detection and TMB calculation rules. Currently, systematic evaluations of the impact of these technical factors on existing assays and best practice recommendations remain lacking.

An LC-MS/MS method for serum cystatin C quantification and its comparison with two commercial immunoassays.

Objectives: The standardization of cystatin C (CysC) measurement has received increasing attention in recent years due to its importance in estimating glomerular filtration rate (GFR). Mass spectrometry-based assays have the potential to provide an accuracy base for CysC measurement. However, a precise, accurate and sustainable LC-MS/MS method for CysC is still lacking.

Safety and immunogenicity of homologous prime-boost CoronaVac vaccine in people living with HIV in China: A multicenter prospective cohort study.

People living with HIV (PLWH) are particularly vulnerable to SARS-CoV-2. This multicentre prospective cohort study evaluated the long-term immunogenicity and safety of a third homologous dose of Sinovac CoronaVac in PLWH in China. A total of 228 PLWH and 127 HIV-negative controls were finally included and followed up for 6 months.

RLP system: A single-tube two-step approach with dual amplification cascades for rapid identification of EGFR T790M.

Background: The detection of cancer gene mutations in biofluids plays a pivotal role in revolutionizing disease diagnosis. The presence of a large background of wild-type sequences poses a challenge to liquid biopsy of tumor mutation genes. Suppressing the detection of wild-type sequences can reduce their interference, however, due to the minimal difference between mutant and wild-type sequences (such as single nucleotide variants differing by only one nucleotide), how to suppress the detection of wild-type sequences to the greatest extent without compromising the sensitivity of mutant sequence detection remains to be explored.

CRISPR-Cas system: A promising tool for rapid detection of SARS-CoV-2 variants.

COVID-19, caused by SARS-CoV-2, remains a global health crisis. The emergence of multiple variants with enhanced characteristics necessitates their detection and monitoring. Genome sequencing, the gold standard, faces implementation challenges due to complexity, cost, and limited throughput.

The role of sex hormones and receptors in HBV infection and development of HBV-related HCC.

Gender disparity in hepatitis B virus (HBV)-related diseases has been extensively documented. Epidemiological studies consistently reported that males have a higher prevalence of HBV infection and incidence of hepatocellular carcinoma (HCC). Further investigations have revealed that sex hormone-related signal transductions play a significant role in gender disparity.

Posttranslational modifications of ACE2 protein: Implications for SARS-CoV-2 infection and beyond.

The present worldwide pandemic of coronavirus disease 2019 (COVID-19) has highlighted the important function of angiotensin-converting enzyme 2 (ACE2) as a receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) entry. A deeper understanding of ACE2 could offer insights into the mechanisms of SARS-CoV-2 infection. While ACE2 is subject to regulation by various factors in vivo, current research in this area is insufficient to fully elucidate the corresponding pathways of control.

Evaluation of Coefficients of Variation for Clinical Chemistry Tests Based on Internal Quality Control Data Across 5,425 Laboratories in China From 2013 to 2022.

Background: Clinical chemistry tests are most widely used in clinical laboratories, and diverse measurement systems for these analyses are available in China. We evaluated the imprecision of clinical chemistry measurement systems based on internal QC (IQC) data.

Methods: IQC data for 27 general chemistry analytes were collected in February each year from 2013 to 2022.

External quality assessment for detection of colorectal cancer by Septin9 DNA methylation in clinical laboratories.

Background And Aims: The incidence and mortality rate of colorectal cancer (CRC) are increasing worldwide. Septin9 methylated (mSEPT9) DNA in circulation can be used as a non-invasive detection method to assist in the early diagnosis of CRC; however, the detection methods and procedures are complicated. This study aimed to evaluate the ability of clinical laboratories to detect Septin9 methylation in plasma cell-free DNA (cfDNA).