Editorial2024-03-01 Diagnostic Genetics

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Guideline2024-03-01 General Laboratory Medicine

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Abstract : Reporting a measurement procedure and its analytical performance following method evaluation in a peer-reviewed journal is an important means for clinical laboratory practitioners to share their findings. It also represents an important source of evidence base to help others make informed decisions about their practice. At present, there are significant variations in the information reported in laboratory medicine journal publications describing the analytical performance of measurement procedures. These variations also challenge authors, readers, reviewers, and editors in deciding the quality of a submitted manuscript. The International Federation of Clinical Chemistry and Laboratory Medicine Working Group on Method Evaluation Protocols (IFCC WG-MEP) developed a checklist and recommends its adoption to enable a consistent approach to reporting method evaluation and analytical performance characteristics of measurement procedures in laboratory medicine journals. It is envisioned that the Laboratory Evaluation and Analytical Performance Characteristics (LEAP) checklist will improve the standardisation of journal publications describing method evaluation and analytical performance characteristics, improving the quality of the evidence base that is relied upon by practitioners.

Review Article2024-03-01 Clinical Chemistry

The Use of Bone-Turnover Markers in Asia-Pacific Populations

Samuel Vasikaran , M.D., Subashini C. Thambiah , M.Path., Rui Zhen Tan , Ph.D., and Tze Ping Loh , M.B., B.ch., B.A.O.; APFCB Harmonization of Reference Interval Working Group

Ann Lab Med 2024; 44(2): 126-134

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Abstract : Bone-turnover marker (BTM) measurements in the blood or urine reflect the bone-remodeling rate and may be useful for studying and clinically managing metabolic bone diseases. Substantial evidence supporting the diagnostic use of BTMs has accumulated in recent years, together with the publication of several guidelines. Most clinical trials and observational and reference-interval studies have been performed in the Northern Hemisphere and have mainly involved Caucasian populations. This review focuses on the available data for populations from the Asia-Pacific region and offers guidance for using BTMs as diagnostic biomarkers in these populations. The procollagen I N-terminal propeptide and β-isomerized C-terminal telopeptide of type-I collagen (measured in plasma) are reference BTMs used for investigating osteoporosis in clinical settings. Premenopausal reference intervals (established for use with Asia-Pacific populations) and reference change values and treatment targets (used to monitor osteoporosis treatment) help guide the management of osteoporosis. Measuring BTMs that are not affected by renal failure, such as the bone-specific isoenzyme alkaline phosphatase and tartrate-resistant acid phosphatase 5b, may be advantageous for patients with advanced chronic kidney disease. Further studies of the use of BTMs in individuals with metabolic bone disease, coupled with the harmonization of commercial assays to provide equivalent results, will further enhance their clinical applications.

Review Article2024-03-01 Clinical Chemistry

Exploring Renal Function Assessment: Creatinine, Cystatin C, and Estimated Glomerular Filtration Rate Focused on the European Kidney Function Consortium Equation

Hans Pottel , Ph.D., Pierre Delanaye , M.D., Ph.D., and Etienne Cavalier , Ph.D.

Ann Lab Med 2024; 44(2): 135-143

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Abstract : Serum creatinine and serum cystatin C are the most widely used renal biomarkers for calculating the estimated glomerular filtration rate (eGFR), which is used to estimate the severity of kidney damage. In this review, we present the basic characteristics of these biomarkers, their advantages and disadvantages, some basic history, and current laboratory measurement practices with state-of-the-art methodology. Their clinical utility is described in terms of normal reference intervals, graphically presented with age-dependent reference intervals, and their use in eGFR equations.

Original Article2024-03-01 Clinical Chemistry

Predictive Performance of Neutrophil Gelatinase Associated Lipocalin, Liver Type Fatty Acid Binding Protein, and Cystatin C for Acute Kidney Injury and Mortality in Severely Ill Patients

Ayu Asakage , M.D., Shiro Ishihara , M.D., Louis Boutin , M.D., François Dépret, Ph.D., Takeshi Sugaya , Ph.D., Naoki Sato , Ph.D., Etienne Gayat , Ph.D., Alexandre Mebazaa , Ph.D., and Benjamin Deniau , Ph.D.

Ann Lab Med 2024; 44(2): 144-154

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Abstract : Background: Acute kidney injury (AKI) is a common condition in severely ill patients associated with poor outcomes. We assessed the associations between urinary neutrophil gelatinase-associated lipocalin (uNGAL), urinary liver-type fatty acid-binding protein (uLFABP), and urinary cystatin C (uCysC) concentrations and patient outcomes. Methods: We assessed the predictive performances of uNGAL, uLFABP, and uCysC measured in the early phase of intensive care unit (ICU) management and at discharge from the ICU in severely ill patients for short- and long-term outcomes. The primary outcome was the occurrence of AKI during ICU stay; secondary outcomes were 28-day and 1-yr allcause mortality. Results: In total, 1,759 patients were admitted to the ICU, and 728 (41.4%) developed AKI. Median (interquartile range, IQR) uNGAL, uLFABP, and uCysC concentrations on admission were 147.6 (39.9–827.7) ng/mL, 32.4 (10.5–96.0) ng/mL, and 0.33 (0.12–2.05) mg/L, respectively. Biomarker concentrations on admission were higher in patients who developed AKI and associated with AKI severity. Three hundred fifty-six (20.3%) and 647 (37.9%) patients had died by 28 days and 1-yr, respectively. Urinary biomarker concentrations at ICU discharge were higher in non-survivors than in survivors. The areas under the ROC curve (95% confidence interval) of uLFABP for the prediction of AKI, 28-day mortality, and 1-yr mortality (0.70 [0.67–0.72], 0.63 [0.59–0.66], and 0.57 [0.51–0.63], respectively) were inferior to those of the other biomarkers. Conclusions: uNGAL, uLFABP, and uCysC concentrations on admission were associated with poor outcomes. However, their predictive performance, individually and in combination, was limited. Further studies are required to confirm our results.

Original Article2024-03-01 Clinical Microbiology

Head-to-Head Comparison of Nine Assays for the Detection of Anti-Echinococcus Antibodies: A Retrospective Evaluation

Carolina Mattwich , M.D., Kristina Huber , M.D., Gisela Bretzel , M.D., Sebastian Suerbaum , M.D., Andreas Wieser , M.D., and Karl Dichtl , M.D.

Ann Lab Med 2024; 44(2): 155-163

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Abstract : Background: Echinococcosis is a neglected tropical disease that is severely underdiagnosed in resource-limited settings. In developed countries, diagnosing echinococcosis is challenging, and reliable serological assays are urgently needed. In the Central European Alps, EM is more common than EG; however, data on the diagnostic performance of assays for EM cases are scarce. We evaluated the suitability of nine antibody assays for routine diagnostics. Methods: Nine commercially available serological assays for detecting anti-Echinococcus antibodies were compared head-to-head using samples collected from 50 patients with echinococcosis and 50 age- and sex-matched control subjects. The assays are Anti-Echinococcus ELISA (IgG) (Euroimmun), Echinococcus IgG ELISA (DRG), Echinococcus IgG ELISA (IBL International), Echinococcus Western Blot IgG (LDBIO Diagnostics), EUROLINE WB (Euroimmun), Hydatidosis ELISA IgG (VirCell), Hydatidosis VIRCLIA IgG Monotest (VirCell), Ridascreen Echinococcus IgG (R-Biopharm), and Virapid Hydatidosis (VirCell). The cases were ranked according to the WHO-Informal Working Group on Echinococcosis (WHO-IWGE) criteria as confirmed, probable, or possible. Results: The performance of the assays varied greatly, with overall sensitivities ranging between 50% and 88% and specificities between 62% and 100%. We observed a trend toward better performance with cases classified as “confirmed” using the WHO-IWGE criteria. Combined analysis with sequential screening and confirmatory testing resulted in a maximum sensitivity of 84% and specificity of 100%. Differentiation between EG and EM infections is clinically relevant but was found to be unreliable. Conclusions: Echinococcus serological assays are highly variable in terms of sensitivity and specificity. Knowledge of the pre-test probability in the patient cohort is required to choose a suitable assay. A combined approach with screening and confirmatory assays may be the best diagnostic strategy in many situations.

Original Article2024-03-01 Diagnostic Genetics

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer

Boyeon Kim , M.D., Ph.D., Yoonjung Kim , M.D., Ph.D., Jae Yong Cho , M.D., Ph.D., and Kyung-A Lee , M.D., Ph.D.

Ann Lab Med 2024; 44(2): 164-173

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Abstract : Background: Molecular cancer profiling may lead to appropriate trials for molecularly targeted therapies. Cell-free DNA (cfDNA) is a promising diagnostic and/or prognostic biomarker in gastric cancer (GC). We characterized somatic genomic alterations in cfDNA of patients with GC. Methods: Medical records and cfDNA data of 81 patients diagnosed as having GC were reviewed. Forty-nine and 32 patients were tested using the Oncomine Pan-Cancer Cell-Free Assay on the Ion Torrent platform and AlphaLiquid 100 kit on the Illumina platform, respectively. Results: Tier I or II alterations were detected in 64.2% (52/81) of patients. Biomarkers for potential targeted therapy were detected in 55.6% of patients (45/81), and clinical trials are underway. ERBB2 amplification is actionable and was detected in 4.9% of patients (4/81). Among biomarkers showing potential for possible targeted therapy, TP53 mutation (38.3%, 35 variants in 31 patients, 31/81) and FGFR2 amplification (6.2%, 5/81) were detected the most. Conclusions: Next-generation sequencing of cfDNA is a promising technique for the molecular profiling of GC. Evidence suggests that cfDNA analysis can provide accurate and reliable information on somatic genomic alterations in patients with GC, potentially replacing tissue biopsy as a diagnostic and prognostic tool. Through cfDNA analysis for molecular profiling, it may be possible to translate the molecular classification into therapeutic targets and predictive biomarkers, leading to personalized treatment options for patients with GC in the future.

Brief Communication2024-03-01 Clinical Chemistry

A Liquid Chromatography-Tandem Mass Spectrometry Method for Simultaneously Determining Meropenem and Linezolid in Blood and Cerebrospinal Fluid

Joanna Berska , Ph.D., Jolanta Bugajska , Ph.D., and Krystyna Sztefko , Ph.D.

Ann Lab Med 2024; 44(2): 174-178

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Abstract : Antibiotic therapy requires appropriate dosage of drugs for effective treatment. Too low antibiotic concentrations may lead to treatment failure and the development of resistant pathogens, whereas overdosing may cause neurological side effects or hemolytic diseases. Meropenem and linezolid are used only in the treatment of serious infections or when other antibiotics are no longer effective as well as for treating central nervous system infections. It is difficult or sometimes even impossible to predict the relation between dosing of antibiotics and its cerebrospinal fluid (CSF) concentration; thus, a method of determining antibiotics not only in the blood but also in the CSF is needed. Analytical method validation is an integral part of good laboratory practice and ensures high accuracy of the results. We performed complete validation process according to the Food and Drug Administration and European Medicine Agency, covering the aspects precision, specificity, accuracy, recovery, limit of detection, limit of quantification, stability, carry-over, and matrix effects. Our liquid chromatography-tandem mass spectrometry method for the simultaneous measurement of meropenem and linezolid in different matrix meets all the acceptance criteria. The method was successfully applied to determine meropenem and linezolid concentrations in serum and CSF samples obtained from children treated with these antibiotics.

Letter to the Editor2024-03-01 Diagnostic Hematology

Concurrent Pleural and Pericardial Involvement in a Patient With De Novo Pure Erythroid Leukemia

Yun Zhang , B.S. Med., Kechao Li , B.S. Med., Xue Li , B.S. Med., Hui Wang , M. Med., Ting Li , M. Med., and Fang Long , M. Med.

Ann Lab Med 2024; 44(2): 179-182

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Letter to the Editor2024-03-01 Clinical Microbiology

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Letter to the Editor2024-03-01 Diagnostic Genetics

Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)

Jiyeon Kim , M.D., Joonsang Yu , M.D., Seunghoo Lee , M.D., Ph.D., Sollip Kim , M.D., Ph.D., In-Seob Lee , M.D., Ph.D., Woochang Lee , M.D., Ph.D., and Sail Chun , M.D., Ph.D.

Ann Lab Med 2024; 44(2): 188-191

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