The Latest Pathology Articles

The latest pathology articles from leading medical journals in a single view.

• Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy.24th November 2020
  Hereditary hemochromatosis is predominantly caused by the HFE p.C282Y homozygous pathogenic variant. Liver carcinoma and mortality risks are increased in individuals with clinically diagnosed hereditary hemochromatosis, but risks are unclear in mostly undiagnosed p.C282Y homozygotes identified in community genotyping.To estimate the incidence of primary hepatic carcinoma and death by HFE variant status.Cohort study of 451 186 […]
• Thyroid paraganglioma: A diagnostic pitfall in thyroid FNA.24th November 2020
  Thyroid paragangliomas are extremely rare and often are misdiagnosed by preoperative fine-needle aspiration (FNA) because their cytologic features overlap with those of other thyroid neoplasms. The objective of this study was to review the cytomorphology in a series of thyroid paragangliomas and correlate the findings with histopathology.Five thyroid paraganglioma cases that underwent FNA were reviewed. […]
• Development and validation of a quantitative electron microscopy score to assess acute cellular stress in the human exocrine pancreas.22nd November 2020
  The pancreas is particularly sensitive to acute cellular stress, but this has been difficult to evaluate using light microscopy. Pancreatic ischaemia associated with deceased organ donation negatively impacts whole-organ and isolated-islet transplantation outcomes. Post-mortem changes have also hampered accurate interpretation of ante-mortem pancreatic pathology. A rigorous histological scoring system accurately quantifying ischaemia is required to […]
• Sinonasal analogue HPV related breast multiphenotypic carcinoma, a report of a case with the first description in the breast.20th November 2020
  High grade basal-like breast carcinomas are triple negative, express basal cytokeratins, and are known for the overall poor prognosis and aggressive behavior. HPV related multiphenotypic sino-nasal carcinoma has overlapping histology with basal-like breast carcinomas, but carry the defining feature of association with high risk HPV.We present a case of a perimenopausal woman with a non-healing […]
• Lineage-Independent Tumors in Bilateral Neuroblastoma.19th November 2020
  Childhood tumors that occur synchronously in different anatomical sites usually represent metastatic disease. However, such tumors can be independent neoplasms. We investigated whether cases of bilateral neuroblastoma represented independent tumors in two children with pathogenic germline mutations by genotyping somatic mutations shared between tumors and blood. Our results suggested that in both children, the lineages […]
• Fine needle aspiration of salivary gland carcinomas with high-grade transformation: A multi-institutional study of 22 cases and review of the literature.19th November 2020
  High-grade transformation (HGT) is a rare process whereby conventional low- to intermediate-grade salivary gland carcinomas (SGC) transform into high-grade, poorly or undifferentiated malignancies with focal or complete loss of their conventional histomorphologic features. Because tumors with HGT are associated with a worse prognosis than their conventional counterparts, preoperative recognition of HGT may be of benefit […]
• Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.17th November 2020
  Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection.To evaluate if deep learning approaches identify more germline pathogenic variants in patients with cancer.A cross-sectional study of a standard germline detection method and a deep learning method in 2 convenience cohorts with prostate […]
• Mixed large cell neuroendocrine carcinoma and squamous cell carcinoma of the colon: detailed molecular characterisation of two cases indicates a distinct colorectal cancer entity.16th November 2020
  We present two rare cases of mixed large cell neuroendocrine carcinoma and squamous cell carcinoma of the colon. A literature search revealed only three published cases with similar histology but none of these reports provided profound molecular and mutational analyses. Our two cases exhibited a distinct, colon-like immunophenotype with strong nuclear CDX2 and β-catenin expression […]
• The Skinner Burial of Ontario, Canada, and the Question of Paget’s Disease in the Americas.16th November 2020
  To examine a possible case of Paget’s disease of bone (PDB) in an Indigenous pre-contact male from Canada, individual D of the Skinner site in Ontario.Radiographs, CT scan and histological analysis.The histological analysis revealed the mosaic pattern that characterizes PDB. CT scans show advanced sclerosis of the cranium and a diminished diplӧe with osteolytic lesions.The […]
• Implementation and assessment of a telecytology quality assurance program.15th November 2020
  The College of American Pathologists mandates that telepathology services are included in laboratory quality management programs. The aim of this study was to assess a telecytology quality assurance (QA) process that we implemented in 2015.Each month, a cytotechnologist randomly selected 3 telecytology fine-needle aspiration (FNA) cases from each cytopathologist on the FNA service that month. Data […]
• Higher prevalence of pulmonary macrothrombi in SARS-CoV-2 than in influenza A: autopsy results from ‘Spanish flu’ 1918/1919 in Switzerland to Coronavirus disease 2019.13th November 2020
  Similar to the influenza A pandemic in 1918/1919, the new Coronavirus disease 2019 (COVID-19) has spread globally. The causes of death in COVID-19 are frequently compared to a seasonal influenza outbreak. Complete COVID-19 autopsy studies were almost non-existent in the first months of the outbreak and are still rare with respect to the number of […]
• Cytologically targeted next-generation sequencing: a synergy for diagnosing urothelial carcinoma.13th November 2020
  Cytology and cystoscopy are used to detect urothelial carcinoma (UC), but together they still fail to detect some UC cases and are not suitable for screening asymptomatic individuals. Mutations are present in more than 98% of UC, mutations have therapeutic significance, and they can be detected by next generation sequencing (NGS) in urine samples. We […]
• TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms.12th November 2020
  Perivascular epithelioid cell tumors (PEComas) form a family of rare mesenchymal neoplasms that typically display myomelanocytic differentiation. Upregulation of mTOR signaling due the inactivation of TSC1/2 (Tuberous Sclerosis 1 and 2) is believed to be a key oncogenic driver in this disease. Recently, a subgroup of PEComas harboring TFE3 (Transcription Factor E3) rearrangements and presenting […]
• KPNA2 expression is a potential marker for differential diagnosis between osteosarcomas and other malignant bone tumor mimics.12th November 2020
  Karyopherin α2 (KPNA2), a member of the karyopherin α family, has been studied in several cancers but has not yet been substantially investigated in malignant bone tumors. The purpose of the current study was to evaluate the KPNA2 expression level and its utility as a novel diagnostic biomarker in osteosarcomas and malignant bone tumor mimics, […]
• P63-negative pulmonary NUT carcinoma arising in the elderly: a case report.12th November 2020
  Pulmonary NUT carcinoma is rare, but lethal, thus, must not be overlooked. The definitive diagnosis is made by a NUT monoclonal antibody or gene analysis, but these are not always routinely available. Therefore, the diagnosis depends on this rare disease being suspected from the clinical and pathological findings. Generally, NUT carcinoma of the lung occurs […]
• Non coding RNAs as the critical factors in chemo resistance of bladder tumor cells.12th November 2020
  Bladder cancer (BCa) is the ninth frequent and 13th leading cause of cancer related deaths in the world which is mainly observed among men. There is a declining mortality rates in developed countries. Although, the majority of BCa patients present Non-Muscle-Invasive Bladder Cancer (NMIBC) tumors, only 30% of patients suffer from muscle invasion and distant […]
• Co-occurrence of malignant neoplasm and Hyperostosis Frontalis Interna in an Iron Age individual from Münsingen-Rain (Switzerland): A multi-diagnostic study.12th November 2020
  To re-analyze one of the oldest cases of malignant bone neoplasm with different analytical techniques.The available skeletal remains of grave 138 (G138) from the Iron Age necropolis of Münsingen-Rain (Switzerland, 420-240 BC).The bones are analyzed by means of morphological, radiographic, histological, and biogeochemical methods.The individual, a male aged between 35-50 years old, presents morphologically and […]
• Chronic lymphocytic leukemia and second primary nonlymphoid malignancies: cytopathologic study of 17 cases.10th November 2020
  Second primary nonlymphoid malignancies (SPNLM) have long been recognized as a complication of chronic lymphocytic leukemia (CLL).A search was made of our cytopathology database for cases of CLL that also contained a SPNLM.Seventeen cases from 13 known CLL patients [M:F = 2.3:1; age range: 47-77 years, x = 67 years] met criteria for this study. […]
• Myxoid neoplasms of bone and soft tissue: a pattern-based approach.10th November 2020
  The accurate diagnosis of musculoskeletal neoplasms is difficult but a pattern-based approach combined with ancillary testing has been shown to improve diagnostic accuracy. The pattern-based approach is particularly appropriate for myxoid lesions.The authors reviewed their personal experience of over 3 decades of diagnosing myxoid neoplasms of musculoskeletal lesions.The authors found that myxoid lesions can be […]
• Cytopathology of extra-renal perivascular epithelioid cell tumor (PEComa): a series of 7 cases and review of the literature.9th November 2020
  Perivascular epithelioid cell tumor (PEComa) is a family of rare mesenchymal tumors consisting of histologically and immunohistochemically distinctive perivascular epithelioid cells. Relatively little is known about the cytopathology of extra-renal PEComas. Because of a considerable range of morphology and their rarity, accurate cytologic classification can be challenging. We evaluated cytologic characteristics and diagnostic pitfalls of […]
• Experience on the use of The Paris System for Reporting Urinary Cytopathology: review of the published literature.8th November 2020
  The Paris System for Reporting Urinary Cytology (TPS) was first published in 2016 with clear objectives to standardize cytologic diagnostic criteria and provide uniform reporting, in order to improve patient stratification and associated clinical management. The aim of this paper is to evaluate the performance of TPS and review the literature published since TPS was […]
• A dual process model for paleopathological diagnosis.3rd November 2020
  This paper aims to provide an explicit theoretical model for the cognitive processes involved in paleopathological diagnosis.The approach adopted is a dual process model (DPM). DPMs recognize that cognition is a result of both Type 1 (intuitive) and Type 2 (analytical) processes. DPMs have been influential for understanding decision-making in a range of fields, including […]
• Determinants of p16/Ki-67 adequacy and positivity in HPV-positive women from a screening population.3rd November 2020
  The objective of this study was to describe the determinants of adequacy and positivity of the p16/Ki-67 assay in a human papillomavirus (HPV)-positive screening population enrolled within the New Technologies for Cervical Cancer 2 (NTCC2) study.ThinPrep slides were immunostained for p16/Ki-67; each slide had 3 reports from different laboratories. The authors included population-related, sampling-related/staining-related, and […]
• Urinary tract cytology: a cytologic-histopathologic correlation with The Paris System, an institutional study.2nd November 2020
  Urothelial carcinoma (UC) requires lifelong monitoring, commonly through urinary cytology and cystoscopy. Urine cytology has a relatively high sensitivity for detecting high-grade urothelial carcinoma (HGUC); however, its sensitivity for low-grade urothelial neoplasm (LGUN) is significantly lower with wide interobserver variability. The Paris System (TPS) was proposed to create standardized diagnostic categories with defined cytomorphologic criteria. […]
• High-grade urothelial carcinoma with hypochromatic chromatin in urine cytology.2nd November 2020
  Some high-grade urothelial carcinomas (UCs) in urine cytology have hypochromatic chromatin, but the incidence and criteria for diagnosis are not well described.Urine cytology cases with biopsy follow up were reviewed.Cytospin preparations from 331 cases with biopsy follow up (230 benign/low-grade UC, 101 malignant) were reviewed. There were no false-positive cases. Cases with malignant cells with […]
• Osteolytic lesions on the os petrosum of a Bronze Age individual from La Llana cave (Northern Spain) compatible with a possible case of otitis media. A multifaceted methodological approach.2nd November 2020
  To encourage the use of different methodological approaches for the identification of paleopathological lesions and to evaluate osteolytic lesions found on a temporal bone from La Llana cave (Spain).Cranial remains recovered from from La Llana cave (Spain) dated to the Bronze Age, 3300 ± 25 BP (1631-1509 cal BC).The cranium underwent macroscopic, microscopic and computed tomography scan examinations.The […]
• Acinar cell induced autolysis is a frequent occurrence in CytoLyt-fixed pancreatic fine needle aspiration specimens: An analysis of 157 cytology samples.2nd November 2020
  Although 10% formalin is a standard preservative in pancreatic FNAs, the effect of CytoLyt on pancreatic tissue preservation has not been systematically explored.Smears and cell blocks from CytoLyt-fixed (CF-CBs) and formalin-fixed (FF-CBs) pancreatic FNAs were blindly reviewed without knowledge of the fixative used, and the presence of tissue/tumor autolysis was noted. Controls included FF-CBs from […]
• Ocular cytology: Diagnostic features and ongoing practices.2nd November 2020
  Ocular cytology specimens are small, with limited options for a repeat biopsy. Appropriate handling of these specimens and triaging for ancillary testing can be taxing. In this article, the author reviews a selection of potentially challenging diagnoses and current common practices and methods used in diagnosing ocular diseases by cytology. The majority of cytology specimens […]
• Putting morphology to the test: An established classification scheme reliably stratifies salivary gland cytology by risk of malignancy with substantial interobserver agreement.2nd November 2020
  The Milan System for Reporting Salivary Gland Cytopathology describes several salivary gland fine-needle aspiration cytology (SGFNAC) morphologies developed by Griffith et al. Basaloid neoplasms are pleomorphic (PB) or monomorphic with fibrillary (MBFib), hyaline (MBHy), or other (MBOther) matrix. Oncocytoid neoplasms can be pleomorphic (PO), demonstrate granular and/or vacuolated cytoplasm (OGV), or be monomorphic with mucinous […]
• Guar bean in urinary cytology: a morphologic pitfall.1st November 2020
  Various types of contaminants can be encountered in cytologic specimens. This study describes a vegetable material that we encountered in ileal conduit urine specimens. We aim to describe the cytomorphology and the source of origin of this vegetable material.The cytology database for the past 5 years (January 2015-April 2020) was searched for ileal conduit urine […]
• SWI/SNF-deficiency defines highly aggressive undifferentiated endometrial carcinoma.30th October 2020
  Dedifferentiated/undifferentiated endometrial carcinoma (DDEC/UEC) is an endometrial cancer characterized by the presence of histologically undifferentiated carcinoma. Genomic inactivation of core switch/sucrose nonfermentable (SWI/SNF) complex proteins was recently identified in approximately two-thirds of DDEC/UEC. The aim of this study was to delineate the clinical behavior of SWI/SNF-deficient DDEC/UEC in comparison to SWI/SNF-intact DDEC/UEC. The study cohort […]
• Utilization of cytology smears improves success rates of RNA-based next-generation sequencing gene fusion assays for clinically relevant predictive biomarkers.29th October 2020
  The use of RNA-based next-generation sequencing (NGS) assays to detect gene fusions for targeted therapy has rapidly become an essential component of comprehensive molecular profiling. For cytology specimens, the cell block (CB) is most commonly used for fusion testing; however, insufficient cellularity and/or suboptimal RNA quality are often limiting factors. In the current study, the […]
• Circ_0001421 facilitates glycolysis and lung cancer development by regulating miR-4677-3p/CDCA3.28th October 2020
  Lung cancer (LC) is a malignant tumor originating in the bronchial mucosa or gland of the lung. Circular RNAs (circRNAs) are proved to be key regulators of tumor progression. However, the regulatory effect of circ_0001421 on lung cancer tumorigenesis remains unclear.The expression levels of circ_0001421, microRNA-4677-3p (miR-4677-3p) and cell division cycle associated 3 (CDCA3) were […]
• Formalin fixation for optimal concordance of programmed death-ligand 1 immunostaining between cytologic and histologic specimens from patients with non-small cell lung cancer.27th October 2020
  Immunohistochemical staining of programmed death-ligand 1 (PD-L1) is used to determine which patients with non-small cell lung cancer (NSCLC) may benefit most from immunotherapy. Therapeutic management of many patients with NSCLC is based on cytology instead of histology. In this study, concordance of PD-L1 immunostaining between cytology cell blocks and their histologic counterparts was analyzed. […]
• Global impact of the COVID-19 pandemic on cytopathology practice: Results from an international survey of laboratories in 23 countries.27th October 2020
  To the authors’ knowledge, the impact of the coronavirus disease 2019 (COVID-19) pandemic on cytopathology practices worldwide has not been investigated formally. In the current study, data from 41 respondents from 23 countries were reported.Data regarding the activity of each cytopathology laboratory during 4 weeks of COVID-19 lockdown were collected and compared with those obtained […]
• Hürthle cell lesions of the thyroid: Progress made and challenges remaining.27th October 2020
  Hürthle cell-predominant thyroid fine needle aspirations (FNA) are encountered frequently in routine practice, yet they are often challenging to diagnose accurately and are associated with significant interobserver variability. This is largely due to the ubiquity of Hürthle cells in thyroid pathology, ranging from nonneoplastic conditions to aggressive malignancies. Although limitations in cytomorphologic diagnoses likely will […]
• Colposcopic endocervical brushing cytology appears to be more sensitive than histologic endocervical curettage for detecting endocervical adenocarcinoma.24th October 2020
  Colposcopic endocervical brushing cytology (CEB) is more sensitive than endocervical curettage (ECC) for detecting squamous intraepithelial lesions. There are no data on performance of CEB for detecting endocervical adenocarcinoma.A total of 151 patients were identified in a word search for “endocervical adenocarcinoma” in surgical pathology reports from January 2007 to June 2019. To measure sensitivity, […]
• Cytological interpretation of p16 immunohistochemistry in head and neck carcinomas: does the choice of fixative matter?24th October 2020
  Fine-needle aspiration (FNA) of nodal metastases plays a key role in the diagnosis of oropharyngeal squamous cell carcinoma (OPSCC). Because of significant clinical implications of human papillomavirus (HPV)-related OPSCC, immunohistochemistry for p16 as a surrogate marker for high-risk HPV is an important ancillary test. After our laboratory switched from CytoLyt to formalin fixative for FNA […]
• Gastric adenocarcinoma of the fundic gland type: clinicopathological features of eight patients treated with endoscopic submucosal dissection.24th October 2020
  Gastric adenocarcinoma of the fundic gland type (GA-FG) has been added to the 2019 edition of the World Health Organization’s list of digestive system-associated cancers. This lesion differentiates toward the fundic gland and mostly involves chief cell-predominant differentiation with low-grade cytology. Clinicians and pathologists are still unaware of this rare disease; consequently, some cases are […]
• Detection and stage classification of Plasmodium falciparum from images of Giemsa stained thin blood films using random forest classifiers.24th October 2020
  The conventional method for the diagnosis of malaria parasites is the microscopic examination of stained blood films, which is time consuming and requires expertise. We introduce computer-based image segmentation and life stage classification with a random forest classifier. Segmentation and stage classification are performed on a large dataset of malaria parasites with ground truth labels […]
• Interobserver study on histologic features of idiopathic non-cirrhotic portal hypertension.24th October 2020
  Histologic features of idiopathic non-cirrhotic portal hypertension (INCPH) may overlap with those without INCPH. Recently, these features have been recognized as part of the larger spectrum of porto-sinusoidal vascular disease (PSVD). We assessed interobserver agreement on histologic features that are commonly associated with INCPH and studied whether a provision of relevant clinical history improves interobserver […]
• The utility of high-risk human papillomavirus E6/E7 mRNA in situ hybridization in assessing HPV status on cell block.23rd October 2020
  Assessment of human papillomavirus (HPV) status is critical to the treatment and prognosis of patients with oropharyngeal squamous cell carcinoma. Patients often present with enlarged cervical lymph nodes which are amenable to fine needle aspiration (FNA) and cell block creation. The most widely used method for assessing HPV status is the surrogate marker p16. Other […]
• A new 7-point method facilitates accurate diagnosis of high-grade urothelial carcinoma in routine urinary cytology practice.23rd October 2020
  This study was designed to identify the minimal and necessary cell morphologies to be considered for high-precision diagnosis of high-grade urothelial carcinoma (HGUC) in a routine urinary cytology practice.We included 338 urine cytology specimens from 11 medical facilities in Japan. Six experts evaluated these Papanicolaou-stained specimens using their own diagnostic criteria to categorize them within […]
• Digital imaging techniques applied to a case of concha bullosa from an early medieval funerary area in central Italy.23rd October 2020
  Concha bullosa is a rather common condition of the nasal turbinates, rarely reported in archaeological skeletal collections. This paper examines a case of concha bullosa as seen in a female cranium from a burial in central Italy, dated to the Longobard domination in the Peninsula (mid-7th- early 8th century CE).The individual under investigation (T86/17) comes […]
• A 13th-century cystic echinococcosis from the cemetery of the monastery of Badia Pozzeveri (Lucca, Italy).23rd October 2020
  To differentially diagnose a calcified formation recovered from a 13th century AD grave from the Tuscan monastery of Badia Pozzeveri, Lucca, Italy.A calcified formation from the thoraco-abdominal region of a skeleton buried in the monastery cemetery.Cone Beam Computed Tomography, Scanning Electron Microscope and Energy Dispersive X-Ray Spectroscopy.A hollow, calcified ovoid formation was identified as typical […]
• An analysis of HER2 amplification in cervical adenocarcinoma: correlation with clinical outcomes and the International Endocervical Adenocarcinoma Criteria and Classification.22nd October 2020
  Few studies have explored HER2 status in cervical adenocarcinoma, particularly in the gastric-type adenocarcinoma (GAC), a nonhuman-papillomavirus-related subtype with poor clinical outcomes. In this study, we investigated HER2 expression and amplification by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) in 209 well annotated cervical adenocarcinomas diagnosed using the International Endocervical Adenocarcinoma Criteria and Classification. […]
• A probable case of multiple myeloma from Bronze Age China.22nd October 2020
  Paleopathological evidence of cancer from past populations is rare, especially outside of Europe and North Africa. This study expands upon the current temporal and spatial distribution of cancer by presenting a probable case of multiple myeloma from Bronze Age China.The human skeletal remains of an adult male from the Qijia culture horizon (1750-1400 BCE) of […]
• Endoscopic and clinicopathological characteristics of colorectal T/NK cell lymphoma.21st October 2020
  Colorectal T/natural killer (NK)-cell lymphomas (TNKCL) are very rare. Endoscopic and clinicopathological characteristics of colorectal TNKCL have not been clearly demonstrated. In this study, we demonstrated the clinical characteristics of colorectal TNKCL.Endoscopic and clinicopathological characteristics were investigated in 27 patients with colorectal monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL), adult T-cell leukemia/lymphoma (ATLL), and other types […]
• Evidence-based diagnostic accuracy measurement in urine cytology using likelihood ratios.19th October 2020
  Recent cytology classification systems have become more evidence-based and advocate for the use of risk of malignancy (ROM) as a measure of test performance. From the statistical viewpoint, ROM represents the post-test probability of malignancy, which changes with the test result and also with the prevalence of malignancies (or pre-test probability) in each individual practice […]
• Cytomorphologic features of NTRK-rearranged thyroid carcinoma.19th October 2020
  NTRK-rearranged thyroid carcinomas (NRTC), though rare, harbor a potential therapeutic target. The cytomorphologic features by fine needle aspiration (FNA) and the utility of preoperative molecular testing for NRTC remain largely uncharacterized. We provide a detailed cytomorphologic analysis of an institutional NRTC cohort with clinical, radiologic, histopathologic, and molecular correlations.Our NRTC FNA cohort included 21 specimens […]
• Identifying sialoliths through SEM technology.17th October 2020
  To define SEM characteristics that may aid identification of sialoliths.Two sialoliths from modern patients affected by sialadenitis.Samples were coated with silver and subjected to scanning electron microscopy using an energy-dispersive X-ray spectroscopy detector. Samples were then sectioned to permit study of the internal structure.Sialoliths show an external smooth surface with no distinctive features. Internal structures […]
• Impact of a genomic classifier on indeterminate thyroid nodules: an institutional experience.17th October 2020
  Indeterminate thyroid cytology (ITC) occurs in 20% to 25% of cases, and the associated risk of malignancy ranges from 5% to 30%. The genomic classifier ThyroSeq (CBLPath/UPMC, Rye Brook, NY), a targeted next-generation sequencing technology, could classify ITC nodules as malignant and nonmalignant. We sought to characterize our institutional experience with ThyroSeq testing.We retrospectively identified […]
• Role of Genetic Variants and Gene Expression in the Susceptibility and Severity of COVID-19.16th October 2020
  Since its first report in December 2019, coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has rapidly emerged as a pandemic affecting nearly all countries worldwide. As the COVID-19 pandemic progresses, the need to identify genetic risk factors for susceptibility to this serious illness has emerged. Host genetic factors, along […]
• Sustainability in Healthcare: Perspectives and Reflections Regarding Laboratory Medicine.16th October 2020
  Healthcare structures serve to protect and improve public health; however, they can have negative effects on human well-being and the environment. Thus, sustainability is an important target in a rapidly changing healthcare environment. We analyzed the state of the art in research on healthcare and sustainability by exploring literature on different healthcare systems and their […]
• Quantification of Thioguanine in DNA Using Liquid Chromatography-Tandem Mass Spectrometry for Routine Thiopurine Drug Monitoring in Patients With Pediatric Acute Lymphoblastic Leukemia.16th October 2020
  We developed an assay to measure DNA-incorporated 6-thioguanine (DNA-TG) and validated its clinical applicability in Korean pediatric patients with acute lymphoblastic leukemia (ALL) in order to improve individualized thiopurine treatment and reduce the life-threatening cytotoxicity.The DNA-TG assay was developed based on liquid chromatography-tandem mass spectrometry, with isotope-labeled TG-d3 and guanine-d3 as internal standards. This method […]
• Establishment of Pediatric Reference Intervals for Routine Laboratory Tests in Korean Population: A Retrospective Multicenter Analysis.16th October 2020
  Reference intervals defined for adults or children of other ethnicities cannot be applied in the evaluation of Korean pediatric patients. Pediatric reference intervals are difficult to establish because children are in their growing stage and their physiology changes continuously. We aimed to establish reference intervals for routine laboratory tests for Korean pediatric patients through retrospective […]
• Laboratory Diagnostic Methods for Clostridioides difficile Infection: the First Systematic Review and Meta-analysis in Korea.16th October 2020
  Various methods are used for the diagnosis of Clostridioides difficile infection (CDI). We systematically analyzed and investigated the performance of current laboratory diagnostic methods for CDI.We performed systematic review and meta-analysis of studies in PubMed, Web of Science, Cochrane Library, and KoreaMed. The following methods were evaluated: glutamate dehydrogenase (GDH) enzyme immunoassays (GDH EIAs), toxin […]
• Relationship Between Rotavirus P[6] Infection in Korean Neonates and Histo-Blood Group Antigen: a Single-Center Study.16th October 2020
  Rotaviruses are a major cause of pediatric gastroenteritis. The rotavirus P[6] genotype is the most prevalent genotype isolated from Korean neonates but has rarely been reported in other countries. Histo-blood group antigen (HBGA) is known to play an important role in rotavirus infection. We investigated the relationship between rotavirus genotype and HBGA-Lewis blood type in […]
• Prediction of HLA-DQ in Deceased Donors and its Clinical Significance in Kidney Transplantation.16th October 2020
  HLA-DQ typing in deceased donors is not mandatory in Korea. Therefore, when patients develop DQ antibodies after kidney transplantation (KT) from deceased donor, it is impossible to determine whether they are donor-specific antibodies (DSA). We developed DQ prediction programs for the HLA gene and evaluated their clinical utility.Two HLA-DQ prediction programs were developed: one based […]
• Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma.16th October 2020
  Hepatocellular carcinoma (HCC) is the second-most-common cause of cancer-related deaths worldwide, and an accurate and non-invasive biomarker for the early detection and monitoring of HCC is required. We assessed pathogenic variants of HCC driver genes in cell-free DNA (cfDNA) from HCC patients who had not undergone systemic therapy.Plasma cfDNA was collected from 20 HCC patients, […]