Annals of Laboratory Medicine最新文献

{"title":"Assessing the Relevance of Non-molecular Prognostic Systems for Myelodysplastic Syndrome in the Era of Next-Generation Sequencing.","authors":"Marco Lincango, Verónica Andreoli, Hernán García Rivello, Andrea Bender, Ana I Catalán, Marilina Rahhal, Rocío Delamer, Mariana Asinari, Adrián Mosquera Orgueira, María Belén Castro, María José Mela Osorio, Alicia Navickas, Sofia Grille, Evangelina Agriello, Jorge Arbelbide, Ana Lisa Basquiera, Carolina B Belli","doi":"10.3343/alm.2024.0089","DOIUrl":"10.3343/alm.2024.0089","url":null,"abstract":"<p><strong>Background: </strong>The Molecular International Prognostic Scoring System (IPSS-M) has improved the prediction of clinical outcomes for myelodysplastic syndromes (MDS). The Artificial Intelligence Prognostic Scoring System for MDS (AIPSS-MDS), based on classical clinical parameters, has outperformed the IPSS, revised version (IPSS-R). For the first time, we validated the IPSS-M and other molecular prognostic models and compared them with the established IPSS-R and AIPSS-MDS models using data from South American patients.</p><p><strong>Methods: </strong>Molecular and clinical data from 145 patients with MDS and 37 patients with MDS/myeloproliferative neoplasms were retrospectively analyzed.</p><p><strong>Results: </strong>Prognostic power evaluation revealed that the IPSS-M (Harrell's concordance [C]-index: 0.75, area under the receiver operating characteristic curve [AUC]: 0.68) predicted overall survival better than the European MDS (EuroMDS; C-index: 0.72, AUC: 0.68) and Munich Leukemia Laboratory (MLL) (C-index: 0.70, AUC: 0.64) models. The IPSS-M prognostic discrimination was similar to that of the AIPSS-MDS model (C-index: 0.74, AUC: 0.66) and outperformed the IPSS-R model (C-index: 0.70, AUC: 0.61). Considering simplified low- and high-risk groups for clinical management, after restratifying from IPSS-R (57% and 32%, respectively, hazard ratio [HR]: 2.8; <i>P</i>=0.002) to IPSS-M, 12.6% of patients were upstaged, and 5% were downstaged (HR: 2.9; <i>P</i>=0.001). The AIPSS-MDS recategorized 51% of the low-risk cohort as high-risk, with no patients being downstaged (HR: 5.6; <i>P</i><0.001), consistent with most patients requiring disease-modifying therapy.</p><p><strong>Conclusions: </strong>The IPSS-M and AIPSS-MDS models provide more accurate survival prognoses than the IPSS-R, EuroMDS, and MLL models. The AIPSS-MDS model is a valid option for assessing risks for all patients with MDS, especially in resource-limited centers where molecular testing is not currently a standard clinical practice.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"44-52"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141756869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic <i>MYBPC3</i> Variants in an Italian Cohort.","authors":"Silvia Caroselli, Marco Fabiani, Caterina Micolonghi, Camilla Savio, Giacomo Tini, Beatrice Musumeci, Erika Pagannone, Aldo Germani, Fabio Libi, Vincenzo Visco, Antonio Pizzuti, Camillo Autore, Simona Petrucci, Speranza Rubattu, Maria Piane","doi":"10.3343/alm.2024.0201","DOIUrl":"10.3343/alm.2024.0201","url":null,"abstract":"<p><p>Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, it yields inconclusive or negative results in 40-60% of HCM cases, owing to, among other causes, technical limitations such as the inability to detect pathogenic intronic variants. Therefore, we aimed to increase the diagnostic yield of molecular analysis for HCM by improving the <i>in-silico</i> detection of intronic variants in <i>MYBPC3</i> that may escape detection by algorithms normally used with tagged diagnostic panels. We included 142 HCM probands with negative results in Illumina TruSight Cardio panel analysis, including exonic regions of 174 cardiomyopathy genes. Raw data were re-analyzed using existing bioinformatics tools. The spliceogenic variant c.1224-80G>A was detected in three patients (2.1%), leading us to reconsider their molecular diagnosis. These patients showed late onset and mild symptoms, although no peculiar phenotypic characteristics were shared. Collectively, rare spliceogenic <i>MYBPC3</i> variants may play a role in causing HCM, and their systematic detection should be performed to provide more comprehensive solutions in genetic testing using multigenic panels.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"96-100"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142360878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Bidirectional ABO- and RhD-Incompatible Liver Transplantation in a Mongolian Patient With Asian-Type DEL.","authors":"Takho Kang, Ryoojung Choi, Dong-Sik Kim, Duck Cho, Dae Won Kim","doi":"10.3343/alm.2024.0399","DOIUrl":"10.3343/alm.2024.0399","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"109-111"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endogenous Thrombin Potential Level Helps Predict High Blood Loss in Patients Undergoing Cardiac Surgery.","authors":"Yujin Jung, Jae Woong Choi, Ho Young Hwang, Ja Yoon Gu, Kyung Hwan Kim, Hyun Kyung Kim","doi":"10.3343/alm.2024.0216","DOIUrl":"10.3343/alm.2024.0216","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"105-108"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carrier Frequency and Incidence of <i>MUTYH</i>-Associated Polyposis Based on Database Analysis in East Asians and Koreans.","authors":"Jong Eun Park, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Chang-Seok Ki, Sun-Young Kong","doi":"10.3343/alm.2024.0242","DOIUrl":"10.3343/alm.2024.0242","url":null,"abstract":"<p><strong>Background: </strong><i>MUTYH</i>-associated polyposis is an autosomal recessive disorder associated with an increased lifetime risk of colorectal cancer and a moderately increased risk of ovarian, bladder, breast, and endometrial cancers. We analyzed the carrier frequency and estimated the incidence of <i>MUTYH</i>-associated polyposis in East Asian and Korean populations, for which limited data were previously available.</p><p><strong>Methods: </strong>We examined 125,748 exomes from the gnomAD database, including 9,197 East Asians, and additional data from 5,305 individuals in the Korean Variant Archive and 1,722 in the Korean Reference Genome Database. All <i>MUTYH</i> variants were interpreted according to the American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines and the Sequence Variant Interpretation guidelines from ClinGen.</p><p><strong>Results: </strong>The global carrier frequency of <i>MUTYH</i>-associated polyposis was 1.29%, with Europeans (non-Finnish) having the highest frequency of 1.86% and Ashkenazi Jews the lowest at 0.06%. East Asians and Koreans had a carrier frequency of 0.35% and 0.37% and an estimated incidence of 1 in 330,409 and 1 in 293,304 in Koreans, respectively, which were substantially lower than the global average of 1 in 24,160 and the European (non-Finnish) incidence of 1 in 11,520.</p><p><strong>Conclusions: </strong>This was the first study to investigate the frequency of carriers of <i>MUTYH</i>-associated polyposis in East Asians, including specific subgroups, utilizing gnomAD and a Korean genome database. Our data provide valuable reference information for future investigations of <i>MUTYH</i>-associated polyposis to understand the genetic diversity and specific variants associated with this condition in East Asian populations.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"77-84"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Non-Cryptic <i>NUP98</i> Rearrangements Associated With Myeloid Neoplasms and Their Poor Prognostic Impact.","authors":"Min-Seung Park, Boram Kim, Jun Ho Jang, Chul Won Jung, Hee-Jin Kim, Hyun-Young Kim","doi":"10.3343/alm.2024.0190","DOIUrl":"10.3343/alm.2024.0190","url":null,"abstract":"<p><strong>Background: </strong><i>NUP98</i> rearrangements (<i>NUP98</i>r), associated with various hematologic malignancies, involve more than 30 partner genes. Despite their clinical significance, reports on the clinicopathological characteristics of rare <i>NUP98</i>r remain limited. We investigated the characteristics of patients with myeloid neoplasms harboring <i>NUP98</i>r among those identified as having 11p15 translocation in chromosomal analysis.</p><p><strong>Methods: </strong>We retrospectively reviewed results from bone marrow chromosomal analyses conducted between 2011 and 2023 and identified 15 patients with 11p15 translocation. Subsequently, <i>NUP98</i>r were evaluated using FISH and/or reverse transcription PCR, and clinical and laboratory data of the patients were analyzed.</p><p><strong>Results: </strong><i>NUP98</i>r were identified in 11 patients initially diagnosed as having AML (N=8), myelodysplastic syndrome (N=2), or chronic myelomonocytic leukemia (N=1), with a median age of 44 yrs (range, 4-77 yrs). Three patients had a history of chemotherapy. In total, five <i>NUP98</i> fusions were identified: <i>NUP98::DDX10</i> (N=3), <i>NUP98::HOXA9</i> (N=2), <i>NUP98::PSIP1</i> (N=2), <i>NUP98::PRRX1</i> (N=1), and <i>NUP98::HOXC11</i> (N=1). Patients with <i>NUP98</i>r exhibited a poor prognosis, with a median overall survival of 12.0 months (95% confidence interval [CI], 3.4-29.6 months) and a 5-yr overall survival rate of 18.2% (95% CI, 5.2%-63.7%).</p><p><strong>Conclusions: </strong>Our study revealed the clinical and genetic characteristics of patients with myeloid neoplasms harboring rare and non-cryptic <i>NUP98</i>r. Given its association with poor prognosis, a comprehensive evaluation is crucial for identifying previously underdiagnosed <i>NUP98</i>r in patients with myeloid neoplasms.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"53-61"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609711/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants.","authors":"Melania Olivieri, Marco Rosetti, Giovanni Poletti, Massimo Maffei, Domenico Coviello, Massimo Mogni, Francesca Capalbo, Morandini Maria Caterina, Valentina Polli, Alice Clementoni, Evita Massari, Marta Monti, Sauro Maoggi, Tommaso Fasano","doi":"10.3343/alm.2024.0182","DOIUrl":"10.3343/alm.2024.0182","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"101-104"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the Disk Diffusion Test for <i>Bacteroides fragilis</i> Group Clinical Isolates.","authors":"Yangsoon Lee, Mi-Hyun Bae, Hyukmin Lee, Myungsook Kim, Kyungwon Lee","doi":"10.3343/alm.2024.0159","DOIUrl":"10.3343/alm.2024.0159","url":null,"abstract":"<p><strong>Background: </strong><i>Bacteroides fragilis</i> group (BFG) isolates are the most frequently isolated gram-negative anaerobic bacteria and exhibit higher levels of antimicrobial resistance than other anaerobic bacteria. Reliable susceptibility testing is needed because of reports of resistance to the most active antibiotics. Recently, the European Committee on Antimicrobial Susceptibility Testing (EUCAST) introduced disk zone diameter breakpoints. We evaluated the disk diffusion test (DDT) for susceptibility testing of BFG isolates compared with the agar dilution method.</p><p><strong>Methods: </strong>In total, 150 BFG isolates were collected from three institutes in Korea. The agar dilution method was conducted according to the CLSI guidelines. DDT was performed following the EUCAST guideline. Fastidious anaerobe agar supplemented with 5% defibrinated horse blood was used as the culture medium. Nine antimicrobials were evaluated: penicillin, cefoxitin, cefotetan, imipenem, meropenem, piperacillin-tazobactam, clindamycin, moxifloxacin, and metronidazole.</p><p><strong>Results: </strong>The categorical agreement (CA) between the two methods was >90.0% for imipenem, meropenem, clindamycin, and metronidazole. However, the CA for piperacillintazobactam was low, at 83.2%. Major errors were found: 5.4% for imipenem, 7.4% for meropenem, and 12.8% for piperacillin-tazobactam. All minor errors were <10%. We propose using the area of technical uncertainty (ATU) zone-overlapping area for susceptible and resistant strains to reduce errors in the DDT. Outside the ATU, the CAs of cefoxitin, cefotetan, and piperacillin-tazobactam were >90.0%, whereas that of moxifloxacin was increased to 88.5%.</p><p><strong>Conclusions: </strong>The DDT can be a useful alternative antimicrobial susceptibility test for BFG isolates when using the ATU zone to reduce errors.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"70-76"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma.","authors":"Seok Jin Kim, Jin Ju Kim, Mi Ri Park, Bon Park, Kyung Ju Ryu, Sang Eun Yoon, Won Seog Kim, Saeam Shin, Seung-Tae Lee","doi":"10.3343/alm.2024.0257","DOIUrl":"10.3343/alm.2024.0257","url":null,"abstract":"<p><p>We explored the utility of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) sequencing as a noninvasive diagnostic tool for detecting central nervous system (CNS) involvement in patients with diffuse large B-cell lymphoma (DLBCL). Secondary CNS involvement in DLBCL, although rare (~5% of cases), presents diagnostic and prognostic challenges during systemic disease progression or relapse. Effective treatment is impeded by the blood-brain barrier. This was a prospective cohort study (Samsung Lymphoma Cohort Study III) involving 17 patients with confirmed CNS involvement. High-throughput sequencing was conducted using targeted gene panels designed to detect low-frequency variants and copy number alterations pertinent to lymphomas in ctDNA extracted from archived CSF samples. Despite challenges such as low DNA concentrations affecting library construction, the overall variant detection rate was 76%. Detected variants included those in genes commonly implicated in CNS lymphoma, such as MYD88. The study highlights the potential of CSF ctDNA sequencing to identify CNS involvement in DLBCL, providing a promising alternative to more invasive diagnostic methods such as brain biopsy, which are not always feasible. Further validation is necessary to establish the clinical utility of this method, which could significantly enhance the management and outcomes of DLBCL patients with suspected CNS involvement.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"90-95"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Toward High-Quality Real-World Laboratory Data in the Era of Healthcare Big Data.","authors":"Sollip Kim, Won-Ki Min","doi":"10.3343/alm.2024.0258","DOIUrl":"10.3343/alm.2024.0258","url":null,"abstract":"<p><p>With Industry 4.0, big data and artificial intelligence have become paramount in the field of medicine. Electronic health records, the primary source of medical data, are not collected for research purposes but represent real-world data; therefore, they have various constraints. Although structured, laboratory data often contain unstandardized terminology or missing information. The major challenge lies in the lack of standardization of test results in terms of metrology, which complicates comparisons across laboratories. In this review, we delve into the essential components necessary for integrating real-world laboratory data into high-quality big data, including the standardization of terminology, data formats, equations, and the harmonization and standardization of results. Moreover, we address the transference and adjustment of laboratory results, along with the certification for quality of laboratory data. By discussing these critical aspects, we seek to shed light on the challenges and opportunities inherent to utilizing real-world laboratory data within the framework of healthcare big data and artificial intelligence.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"1-11"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}