Annals of Laboratory Medicine最新文献

{"title":"Reclassification of Myelodysplastic Neoplasms According to the 2022 World Health Organization Classification and the 2022 International Consensus Classification Using Open-Source Data: Focus on <i>SF3B1-</i> and <i>TP53</i>-mutated Myelodysplastic Neoplasms.","authors":"Jiwon Yun, Hye Ryoun Kim","doi":"10.3343/alm.2024.0079","DOIUrl":"https://doi.org/10.3343/alm.2024.0079","url":null,"abstract":"<p><strong>Background: </strong>In 2022, the WHO and International Consensus Classification (ICC) published diagnostic criteria for myelodysplastic neoplasms (MDSs). We examined the influence of the revised diagnostic criteria on classifying MDSs in a large population.</p><p><strong>Methods: </strong>We retrieved an open-source pre-existing dataset from cBioPortal and included 2,454 patients with MDS in this study. Patients were reclassified based on the new diagnostic 2022 WHO and ICC criteria. Survival analysis was performed using Cox regression to validate the new criteria and to assess risk factors.</p><p><strong>Results: </strong>Based on the 2022 WHO criteria, 1.4% of patients were reclassified as having AML. The 2022 WHO criteria provide a superior prognostic/diagnostic model to the 2017 WHO criteria (Akaike information criterion, 14,152 vs. 14,516; concordance index, 0.705 vs. 0.681). For classifying MDS with low blast counts and <i>SF3B1</i> mutation, a variant allele frequency cut-off of 5% (2022 WHO criteria) and the absence of <i>RUNX1</i> co-mutation (2022 ICC criteria) are diagnostically relevant. For classifying MDSs with mutated <i>TP53</i>, a blast count cut-off of 10% (2022 ICC criteria) and multi-hit <i>TP53</i> (2022 WHO criteria) are independent risk factors in cases with ≥10% blasts.</p><p><strong>Conclusions: </strong>Our findings support the refinements of the new WHO criteria. We recommend the complementary use of the new WHO and ICC criteria in classifying <i>SF3B1-</i> and <i>TP53</i>-mutated MDSs for better survival prediction.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141750969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Analysis of AB vs. ABO-specific Plasma for Desensitization in Blood Group O Recipients: An <i>In Vitro</i> Study.","authors":"Young Ae Lim","doi":"10.3343/alm.2023.0393","DOIUrl":"10.3343/alm.2023.0393","url":null,"abstract":"<p><p>Neutralizing capacity measurement (NCM) of soluble ABH substances (SAS) in plasma was assessed to guide the selection of the appropriate ABO group of fresh-frozen plasma (FFP) for plasma exchange (PE) in blood group O recipients with ABO-incompatible transplantations. Neutralizing capacity was assessed by measuring anti-A and/or anti-B titers in samples comprising one unit of O FFP and 10 O EDTA plasma samples and subtracting the binary logarithm of the titer in each group with a saline dilution. Ten EDTA plasma samples with Lewis b (Le^b) antigen positivity and 10 sets of pooled FFP from each blood group were used as diluents. In O FFP, the NCM values (mean±SD) were 3.4±0.52 (2.6±0.52) and 2.6±0.52 (1.5±0.3) in B and AB for IgM (total antibody) anti-B (both <i>P</i><0.001), and in the 10 O EDTA plasma samples, they were 3.9±0.88 (3.1±0.88) and 3.2±0.79 (2.4±0.97) for IgM (<i>P</i>=0.0013) and total anti-B (<i>P</i>=0.025), respectively. <i>In vitro</i> analysis revealed that B FFP is more effective than AB FFP in reducing IgM and total anti-B antibody titers in O recipients, regardless of Le^b antigen positivity.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"359-362"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139490771","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":"Detection of a High-Dose Hook Effect and Evaluation of Dilutions of Urine Myoglobin Specimens Using a Serum Myoglobin Assay.","authors":"Joshua Joon Hyung Hunsaker, Sonia Leilani La'ulu, Emily Zupan, Dhwani Patel, Vrajesh Pandya, Joseph William Rudolf","doi":"10.3343/alm.2023.0427","DOIUrl":"10.3343/alm.2023.0427","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"367-370"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140118632","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":"<i>TSHR</i> Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.","authors":"Hai-Yang Zhang, Feng-Yao Wu, Xue-Song Li, Ping-Hui Tu, Cao-Xu Zhang, Rui-Meng Yang, Ren-Jie Cui, Chen-Yang Wu, Ya Fang, Liu Yang, Huai-Dong Song, Shuang-Xia Zhao","doi":"10.3343/alm.2023.0337","DOIUrl":"10.3343/alm.2023.0337","url":null,"abstract":"<p><strong>Background: </strong>Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (<i>TSHR</i>) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype-phenotype relationships for most <i>TSHR</i> variants associated with CH remain unexplored. We aimed to identify <i>TSHR</i> variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between <i>TSHR</i> genotypes and clinical phenotypes.</p><p><strong>Methods: </strong>In total, 367 patients with CH were recruited for <i>TSHR</i> variant screening using whole-exome sequencing. The effects of the variants were evaluated by <i>in-silico</i> programs such as SIFT and polyphen2. Furthermore, these variants were transfected into 293T cells to detect their Gs/cyclic AMP and Gq/11 signaling activity.</p><p><strong>Results: </strong>Among the 367 patients with CH, 17 <i>TSHR</i> variants, including three novel variants, were identified in 45 patients, and 18 patients carried biallelic <i>TSHR</i> variants. <i>In vitro</i> experiments showed that 10 variants were associated with Gs/cyclic AMP and Gq/11 signaling pathway impairment to varying degrees. Patients with <i>TSHR</i> biallelic variants had lower serum TSH levels and higher free triiodothyronine and thyroxine levels at diagnosis than those with <i>DUOX2</i> biallelic variants.</p><p><strong>Conclusions: </strong>We found a high frequency of <i>TSHR</i> variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by <i>TSHR</i> biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by <i>TSHR</i> biallelic variants is relatively mild. Our study expands the <i>TSHR</i> variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"343-353"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140020861","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":"Direct LDL Cholesterol Assay vs. Estimated Equations in Patients With Hypertriglyceridemia or Low LDL Cholesterol Levels.","authors":"Jennifer Rodríguez-Domínguez, Álvaro Piedra-Aguilera, María Martínez-Bujidos, Susana Malumbres-Serrano, Cristian Morales-Indiano, Carla Fernández-Prendes","doi":"10.3343/alm.2023.0387","DOIUrl":"10.3343/alm.2023.0387","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"363-366"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139490773","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":"<i>NUP214</i> Rearrangements in Leukemia Patients: A Case Series From a Single Institution.","authors":"Yu Jeong Choi, Young Kyu Min, Seung-Tae Lee, Jong Rak Choi, Saeam Shin","doi":"10.3343/alm.2023.0301","DOIUrl":"10.3343/alm.2023.0301","url":null,"abstract":"<p><strong>Background: </strong>The three best-known <i>NUP214</i> rearrangements found in leukemia (<i>SET:: NUP214, NUP214::ABL1</i>, and <i>DEK::NUP214</i>) are associated with treatment resistance and poor prognosis. Mouse experiments have shown that <i>NUP214</i> rearrangements alone are insufficient for leukemogenesis; therefore, the identification of concurrent mutations is important for accurate assessment and tailored patient management. Here, we characterized the demographic characteristics and concurrent mutations in patients harboring <i>NUP214</i> rearrangements.</p><p><strong>Methods: </strong>To identify patients with <i>NUP214</i> rearrangements, RNA-sequencing results of diagnostic bone marrow aspirates were retrospectively studied. Concurrent targeted next-generation sequencing results, patient demographics, karyotypes, and flow cytometry information were also reviewed.</p><p><strong>Results: </strong>In total, 11 patients harboring <i>NUP214</i> rearrangements were identified, among whom four had <i>SET::NUP214</i>, three had <i>DEK::NUP214</i>, and four had <i>NUP214::ABL1</i>. All <i>DEK::NUP214</i>-positive patients were diagnosed as having AML. In patients carrying <i>SET::NUP214</i> and <i>NUP214::ABL1</i>, T-lymphoblastic leukemia was the most common diagnosis (50%, 4/8). Concurrent gene mutations were found in all cases. <i>PFH6</i> mutations were the most common (45.5%, 5/11), followed by <i>WT1</i> (27.3%, 3/11), <i>NOTCH1</i> (27.3%, 3/11), <i>FLT3</i>-internal tandem duplication (27.3%, 3/11), <i>NRAS</i> (18.2%, 2/11), and <i>EZH2</i> (18.2%, 2/11) mutations. Two patients represented the second and third reported cases of <i>NUP214::ABL1</i>-positive AML.</p><p><strong>Conclusions: </strong>We examined the characteristics and concurrent test results, including gene mutations, of 11 leukemia patients with <i>NUP214</i> rearrangement. We hope that the elucidation of the context in which they occurred will aid future research on tailored monitoring and treatment.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"335-342"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139037378","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":"The First Case of Pulmonary Mucormycosis Caused by <i>Lichtheimia ornata</i>.","authors":"Jungjun Lee, Dong-Gun Lee, Raeseok Lee, Jae-Ho Yoon, Kyongmin Sarah Beck, In Young Yoo, Yeon-Joon Park","doi":"10.3343/alm.2023.0426","DOIUrl":"10.3343/alm.2023.0426","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"371-374"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140108982","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":"Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies.","authors":"Yeeun Shim, Yu-Kyung Koo, Saeam Shin, Seung-Tae Lee, Kyung-A Lee, Jong Rak Choi","doi":"10.3343/alm.2023.0339","DOIUrl":"10.3343/alm.2023.0339","url":null,"abstract":"<p><strong>Background: </strong>Structural variants (SVs) are currently analyzed using a combination of conventional methods; however, this approach has limitations. Optical genome mapping (OGM), an emerging technology for detecting SVs using a single-molecule strategy, has the potential to replace conventional methods. We compared OGM with conventional diagnostic methods for detecting SVs in various hematologic malignancies.</p><p><strong>Methods: </strong>Residual bone marrow aspirates from 27 patients with hematologic malignancies in whom SVs were observed using conventional methods (chromosomal banding analysis, FISH, an RNA fusion panel, and reverse transcription PCR) were analyzed using OGM. The concordance between the OGM and conventional method results was evaluated.</p><p><strong>Results: </strong>OGM showed concordance in 63% (17/27) and partial concordance in 37% (10/27) of samples. OGM detected 76% (52/68) of the total SVs correctly (concordance rate for each type of SVs: aneuploidies, 83% [15/18]; balanced translocation, 80% [12/15] unbalanced translocation, 54% [7/13] deletions, 81% [13/16]; duplications, 100% [2/2] inversion 100% [1/1]; insertion, 100% [1/1]; marker chromosome, 0% [0/1]; isochromosome, 100% [1/1]). Sixteen discordant results were attributed to the involvement of centromeric/telomeric regions, detection sensitivity, and a low mapping rate and coverage. OGM identified additional SVs, including submicroscopic SVs and novel fusions, in five cases.</p><p><strong>Conclusions: </strong>OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"324-334"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140020863","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":"Manufacturing Cell and Gene Therapies: Challenges in Clinical Translation.","authors":"Na Kyung Lee, Jong Wook Chang","doi":"10.3343/alm.2023.0382","DOIUrl":"10.3343/alm.2023.0382","url":null,"abstract":"<p><p>The safety and efficacy of both cell and gene therapies have been demonstrated in numerous preclinical and clinical trials. Chimeric antigen receptor T (CAR-T) cell therapy, which leverages the technologies of both cell and gene therapies, has also shown great promise for treating various cancers. Advancements in pertinent fields have also highlighted challenges faced while manufacturing cell and gene therapy products. Potential problems and obstacles must be addressed to ease the clinical translation of individual therapies. Literature reviews of representative cell-based, gene-based, and cell-based gene therapies with regard to their general manufacturing processes, the challenges faced during manufacturing, and QC specifications are limited. We review the general manufacturing processes of cell and gene therapies, including those involving mesenchymal stem cells, viral vectors, and CAR-T cells. The complexities associated with the manufacturing processes and subsequent QC/validation processes may present challenges that could impede the clinical progression of the products. This article addresses these potential challenges. Further, we discuss the use of the manufacturing model and its impact on cell and gene therapy.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"314-323"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139740248","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":"Usefulness of Component-Resolved Diagnosis of Pollen-Food Allergy Syndrome.","authors":"Moon Won Lee, Hyun Ji Lee, Seulgi Moon, Kyung-Hwa Shin","doi":"10.3343/alm.2023.0466","DOIUrl":"10.3343/alm.2023.0466","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"378-380"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139904937","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}