Annals of Laboratory Medicine最新文献_第7页

Comparison of Measurable Residual Disease in Pediatric B-Lymphoblastic Leukemia Using Multiparametric Flow Cytometry and Next-Generation Sequencing. 使用多参数流式细胞仪和新一代测序技术比较小儿B淋巴细胞白血病的可测量残留病灶

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2024-07-01 Epub Date: 2024-01-19 DOI: 10.3343/alm.2023.0412

Sang Mee Hwang, Inseong Oh, Seok Ryun Kwon, Jee-Soo Lee, Moon-Woo Seong

{"title":"Comparison of Measurable Residual Disease in Pediatric B-Lymphoblastic Leukemia Using Multiparametric Flow Cytometry and Next-Generation Sequencing.","authors":"Sang Mee Hwang, Inseong Oh, Seok Ryun Kwon, Jee-Soo Lee, Moon-Woo Seong","doi":"10.3343/alm.2023.0412","DOIUrl":"10.3343/alm.2023.0412","url":null,"abstract":"Measurable residual disease (MRD) testing, a standard procedure in B-lymphoblastic leukemia (B-ALL) diagnostics, is assessed using multiparametric flow cytometry (MFC) and next-generation sequencing (NGS) analysis of immunoglobulin gene rearrangements. We evaluated the concordance between eight-color, two-tube MFC-MRD the LymphoTrack NGS-MRD assays using 139 follow-up samples from 54 pediatric patients with B-ALL. We also assessed the effect of hemodilution in MFC-MRD assays. The MRD-concordance rate was 79.9% (N=111), with 25 (18.0%) and 3 (2.2%) samples testing positive only by NGS-MRD (MFC-NGS+MRD) and MFC-MRD (MFC+NGS-MRD), respectively. We found a significant correlation in MRD values from total nucleated cells between the two methods (r=0.736 [0.647-0.806], P<0.001). The median MRD value of MFC-NGS+MRD samples was estimated to be 0.0012% (0.0001%-0.0263%) using the NGS-MRD assays. Notably, 14.3% of MFC-NGS+MRD samples showed NGS-MRD values below the limit of detection in the MFC-MRD assays. The percentages of hematogones detected in MFC-MRD assays significantly differed between the discordant and concordant cases (P<0.001). MFC and NGS-MRD assays showed relatively high concordance and correlation in MRD assessment, whereas the NGS-MRD assay detected MRD more frequently than the MFC-MRD assay in pediatric B-ALL. Evaluating the hematogone percentages can aid in assessing the impact of sample hemodilution.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"354-358"},"PeriodicalIF":4.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139490772","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}

引用次数: 0

A Severe Infection Caused by a White Colony-Producing Strain of Clostridioides difficile RTC41/ST588. 难辨梭状芽孢杆菌 RTC41/ST588 白色菌落菌株引发的严重感染。

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2024-07-01 Epub Date: 2024-03-07 DOI: 10.3343/alm.2023.0474

Se Yoon Park, Heejung Kim, Yangsoon Lee

引用次数: 0

Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China. 探索中国广州个体葡萄糖-6-磷酸脱氢酶活性的适当参考区间和临床决策限。

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2024-05-03 DOI: 10.3343/alm.2023.0477

Zhenyi Huang, Ziyan Li, Yating Li, Yunshan Cao, Suping Zhong, Jinlu Liu, Zhiqian Lin, Lijuan Lin, Yanping Fang, Jing Zeng, Zhaoying Su, Huibin Li, Jianfen Liang, Biqing Zhu, Zipei Lin, Yongxin Huang, Xuexi Yang, Lingxiao Jiang

引用次数: 0

The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation. 首例因 4q25 插入性易位导致 AVPR2 中断的先天性肾源性糖尿病患者

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2024-05-01 Epub Date: 2023-12-26 DOI: 10.3343/alm.2023.0361

Boram Kim, Yo Han Ahn, Jae Hyeon Park, Han Sol Lim, Seung Won Chae, Jee-Soo Lee, Hee Gyung Kang, Man Jin Kim, Moon-Woo Seong

引用次数: 0

Current Status of Flow Cytometric Immunophenotyping of Hematolymphoid Neoplasms in Korea. 韩国血淋巴肿瘤流式细胞免疫分型的现状。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2024-05-01 Epub Date: 2023-12-26 DOI: 10.3343/alm.2023.0298

Mikyoung Park, Jihyang Lim, Ari Ahn, Eun-Jee Oh, Jaewoo Song, Kyeong-Hee Kim, Jin-Yeong Han, Hyun-Woo Choi, Joo-Heon Park, Kyung-Hwa Shin, Hyerim Kim, Miyoung Kim, Sang-Hyun Hwang, Hyun-Young Kim, Duck Cho, Eun-Suk Kang

{"title":"Current Status of Flow Cytometric Immunophenotyping of Hematolymphoid Neoplasms in Korea.","authors":"Mikyoung Park, Jihyang Lim, Ari Ahn, Eun-Jee Oh, Jaewoo Song, Kyeong-Hee Kim, Jin-Yeong Han, Hyun-Woo Choi, Joo-Heon Park, Kyung-Hwa Shin, Hyerim Kim, Miyoung Kim, Sang-Hyun Hwang, Hyun-Young Kim, Duck Cho, Eun-Suk Kang","doi":"10.3343/alm.2023.0298","DOIUrl":"10.3343/alm.2023.0298","url":null,"abstract":"Background: Flow cytometric immunophenotyping of hematolymphoid neoplasms (FCI-HLN) is essential for diagnosis, classification, and minimal residual disease (MRD) monitoring. FCI-HLN is typically performed using in-house protocols, raising the need for standardization. Therefore, we surveyed the current status of FCI-HLN in Korea to obtain fundamental data for quality improvement and standardization.Methods: Eight university hospitals actively conducting FCI-HLN participated in our survey. We analyzed responses to a questionnaire that included inquiries regarding test items, reagent antibodies (RAs), fluorophores, sample amounts (SAs), reagent antibody amounts (RAAs), acquisition cell number (ACN), isotype control (IC) usage, positive/negative criteria, and reporting.Results: Most hospitals used acute HLN, chronic HLN, plasma cell neoplasm (PCN), and MRD panels. The numbers of RAs were heterogeneous, with a maximum of 32, 26, 12, 14, and 10 antibodies used for acute HLN, chronic HLN, PCN, ALL-MRD, and multiple myeloma-MRD, respectively. The number of fluorophores ranged from 4 to 10. RAs, SAs, RAAs, and ACN were diverse. Most hospitals used a positive criterion of 20%, whereas one used 10% for acute and chronic HLN panels. Five hospitals used ICs for the negative criterion. Positive/negative assignments, percentages, and general opinions were commonly reported. In MRD reporting, the limit of detection and lower limit of quantification were included.Conclusions: This is the first comprehensive study on the current status of FCI-HLN in Korea, confirming the high heterogeneity and complexity of FCI-HLN practices. Standardization of FCI-HLN is urgently needed. The findings provide a reference for establishing standard FCI-HLN guidelines.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"222-234"},"PeriodicalIF":4.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10813832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139037379","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}

引用次数: 0

Toward Standardization of Flow-Cytometric Immunophenotyping for the Diagnosis and Monitoring of Hematologic Malignancies. 为诊断和监测血液恶性肿瘤实现流式细胞免疫分型标准化。

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2024-05-01 Epub Date: 2023-12-26 DOI: 10.3343/alm.2023.0467

Seon Young Kim, Hee Jin Huh

引用次数: 0

Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome. ITGB3同源新突变双胞胎：格兰兹曼血栓形成样综合征病例报告

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2024-05-01 Epub Date: 2023-12-28 DOI: 10.3343/alm.2023.0375

Jaewoong Lee, Jong-Mi Lee, Hoon Seok Kim, Jin Jung, Yonggoo Kim, Suk Young Park, Myungshin Kim, Eunhee Han

引用次数: 0

Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity. 原发性高草酸尿的筛选和监测：高灵敏度气相色谱-质谱法定量测定血浆草酸盐。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2024-05-01 Epub Date: 2023-10-31 DOI: 10.3343/alm.2023.0178

Mehrdad Yazdanpanah, Jessie Cameron, Chandra Chappel, Libin Yuan

{"title":"Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity.","authors":"Mehrdad Yazdanpanah, Jessie Cameron, Chandra Chappel, Libin Yuan","doi":"10.3343/alm.2023.0178","DOIUrl":"10.3343/alm.2023.0178","url":null,"abstract":"Background: Plasma oxalate measurements can be used for the screening and therapeutic monitoring of primary hyperoxaluria. We developed a gas chromatography-mass spectrometry (GC-MS) assay for plasma oxalate measurements with high sensitivity and suitable testing volumes for pediatric populations.Methods: Plasma oxalate was extracted, derivatized, and analyzed by GC-MS. We measured the ion at m/z 261.10 to quantify oxalate and the 13C2-oxalate ion (m/z: 263.15) as the internal standard. Method validation included determination of the linear range, limit of blank, limit of detection, lower limit of quantification, precision, recovery, carryover, interference, and dilution effect. The cut-off value between primary and non-primary hyperoxaluria in a pediatric population was analyzed.Results: The detection limit was 0.78 μmol/L, and the linear range was up to 80.0 μmol/L. The between-day precision was 5.7% at 41.3 μmol/L and 13.1% at 1.6 μmol/L. The carryover was <0.2%. The recovery rate ranged from 90% to 110%. Interference analysis showed that Hb did not interfere with plasma oxalate quantification, whereas intralipids and bilirubin caused false elevation of oxalate concentrations. A cut-off of 13.9 μmol/L showed 63% specificity and 77% sensitivity, whereas a cut-off of 4.15 μmol/L showed 100% specificity and 20% sensitivity. The minimum required sample volume was 250 μL. The detected oxalate concentrations showed interference from instrument conditioning, sample preparation procedures, medications, and various clinical conditions.Conclusions: GC-MS is a sensitive assay for quantifying plasma oxalate and is suitable for pediatric patients. Plasma oxalate concentrations should be interpreted in a clinical context.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"235-244"},"PeriodicalIF":4.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10813830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410374","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}

引用次数: 0

Optimization of a Protocol for Isolating Cell-free DNA From Cerebrospinal Fluid. 优化从脑脊液中分离无细胞 DNA 的方案

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2024-05-01 Epub Date: 2023-12-28 DOI: 10.3343/alm.2023.0267

Ho Hyun Song, Hyeran Park, Doohwan Cho, Hae In Bang, Hyuk-Jin Oh, Jieun Kim

引用次数: 0

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines. 使用ClinGen指南重新评估意义不确定的纤维蛋白-1基因变体。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2024-05-01 Epub Date: 2023-10-16 DOI: 10.3343/alm.2023.0152

Seo Wan Kim, Boyeon Kim, Yoonjung Kim, Kyung-A Lee

{"title":"Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.","authors":"Seo Wan Kim, Boyeon Kim, Yoonjung Kim, Kyung-A Lee","doi":"10.3343/alm.2023.0152","DOIUrl":"10.3343/alm.2023.0152","url":null,"abstract":"Background: Marfan syndrome (MFS) is caused by fibrillin-1 gene (FBN1) variants. Mutational hotspots and/or well-established critical functional domains of FBN1 include cysteine residues, calcium-binding consensus sequences, and amino acids related to interdomain packaging. Previous guidelines for variant interpretation do not reflect the features of genes or related diseases. Using the Clinical Genome Resource (ClinGen) FBN1 variant curation expert panel (VCEP), we re-evaluated FBN1 germline variants reported as variants of uncertain significance (VUSs).Methods: We re-evaluated 26 VUSs in FBN1 reported in 161 patients with MFS. We checked the variants in the Human Genome Mutation Database, ClinVar, and VarSome databases and assessed their allele frequencies using the gnomAD database. Patients' clinical information was reviewed.Results: Four missense variants affecting cysteines (c.460T>C, c.1006T>C, c.5330G>C, and c.8020T>C) were reclassified as likely pathogenic and were assigned PM1_strong or PM1. Two intronic variants were reclassified as benign by granting BA1 (stand-alone). Four missense variants were reclassified as likely benign. BP5 criteria were applied in cases with an alternate molecular basis for disease, one of which (c.7231G>A) was discovered alongside a pathogenic de novo COL3A1 variant (c.1988G>T, p.Gly633Val).Conclusions: Considering the high penetrance of FBN1 variants and clinical variability of MFS, the detection of pathogenic variants is important. The ClinGen FBN1 VCEP encompasses mutational hotspots and/or well-established critical functional domains and adjusts the criteria specifically for MFS; therefore, it is beneficial not only for identifying pathogenic FBN1 variants but also for distinguishing these variants from those that cause other connective tissue disorders with overlapping clinical features.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"271-278"},"PeriodicalIF":4.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10813823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41231987","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}

引用次数: 0