Letter to the Editor2022-07-01 Clinical Microbiology

The First Case of Azorhizobium caulinodans Bacteremia in a Patient with Leukemia

Jae Hyeon Park , M.D., Taek Soo Kim , M.D., and Hyunwoong Park , M.D., Ph.D.

Ann Lab Med 2022; 42(4): 494-496

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Original Article2023-01-01 Diagnostic Genetics

Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea

Yoonjung Kim , M.D., Ph.D., Inho Park , Ph.D., Boyeon Kim , M.D., Ph.D., Yu Jeong Choi , M.D., Seoung Chul Oh , M.T., M.S., and Kyung-A Lee , M.D., Ph.D.

Ann Lab Med 2023; 43(1): 64-72

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Abstract : Background: Following success of the phase III PROfound trial, the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib was approved by the US Food and Drug Administration in May 2020 for adult patients with deleterious homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). As locally adopted multigene panel next-generation sequencing (NGS) assays for selecting PARP inhibitor candidates have not been thoroughly evaluated, we compared the analytical performance of the FoundationOne CDx (Foundation Medicine, Inc., Cambridge, MA, USA) (central laboratory) and other NGS assays (local laboratory) with samples from the PROfound trial in Korea. Methods: One hundred PROfound samples (60 HRR mutation [HRRm] cases and 40 non-HRRm cases) were analyzed. The results of HRR gene mutation analysis were compared between the FoundationOne CDx and two other NGS assays [SureSelect Custom Design assay (Agilent Technologies, Inc., Santa Clara, CA, USA) and Oncomine Comprehensive assay (Thermo Fisher Scientific, Inc., Waltham, MA, USA)]. Results: The positive percent agreement for single nucleotide variants (SNVs) and insertion/deletions (indels) between the central laboratory and local laboratory was 98.7%–100.0%. The negative percent agreement and overall percent agreement (OPA) for SNVs and indels between central and local laboratories were both 100%. Compared with that of the FoundationOne CDx assay, the OPA for copy number variations of the Oncomine Comprehensive and SureSelect Custom assays reached 99.8%–100%. Most mCRPC patients harboring a deleterious genetic variant were successfully identified with both local laboratory assays. Conclusions: The NGS approach at a local laboratory showed comparable analytical performance for identifying HRRm status to the FoundationOne CDx assay used at the central laboratory.

Original Article2023-01-01 Diagnostic Genetics

Cost-Effectiveness Analysis of Germline and Somatic BRCA Testing in Patients With Advanced Ovarian Cancer

Jaehyeok Jang , M.D., Yoonjung Kim , M.D., Ph.D., Jae-Hoon Kim , M.D., Ph.D., Sun-Mi Cho , M.D., and Kyung-A Lee , M.D., Ph.D.

Ann Lab Med 2023; 43(1): 73-81

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Abstract : Background: BRCA testing is necessary for establishing a management strategy for ovarian cancer. Several BRCA testing strategies, including germline and somatic testing, are implemented in clinical practice in Korea. We aimed to comparatively evaluate their cost-effectiveness from patients’ perspective. Methods: We developed a decision model comprising five BRCA testing strategies implemented in Korea: (1) germline testing first, followed by somatic tumor testing for patients without a germline variant; (2) somatic testing first, followed by germline testing for patients with a variant detected by somatic testing; (3) both germline and somatic testing; (4) germline testing alone; and (5) somatic testing alone, with no testing as the comparator. One-way sensitivity analysis was conducted to test the uncertainty of key parameters. Results: Assuming a willingness-to-pay of $20,000 per progression-free life-year gain (PF-LYG), all five strategies were considered cost-effective. Strategy 4 was the most cost-effective option, with an incremental cost-effectiveness ratio (ICER) of $2,547.7 per PF-LYG, followed by strategy 1, with an ICER of $3,978.4 per PF-LYG. Even when the parameter values were varied within the possible range, the ICERs of all strategies did not exceed the willingness-to-pay threshold. Conclusions: Considering the importance of knowing a patient’s BRCA gene status, germline testing first, followed by somatic testing, may be a reasonable option.

Original Article2022-05-01 Transfusion Medicine

Questionnaire Survey on Current Red Blood Cell Transport and Storage in Korea for Reducing Wastage

Mikyoung Park , M.D., Ph.D., Mina Hur , M.D., Ph.D., Hahah Kim , M.D., Ph.D., Kyungmi Oh , R.N., Ph.D., Hyunmi Kim , R.N., Young Hye Song , R.N., Ph.D., Dae-Hyun Ko , M.D., Ph.D., and Yousun Chung , M.D.

Ann Lab Med 2022; 42(3): 342-351

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Abstract : Background: To ensure safe red blood cell (RBC) transfusion practice, it is important to comply with storage and transport requirements of RBC units. We conducted a comprehensive survey on the practice of RBC transport and storage to explore the awareness of and compliance with the 30-minute rule, the current status of RBC unit transport, and possible utility of temperature indicators (TIs) to reduce RBC wastage. Methods: From June to August of 2019, 64 blood bank physicians (14 questions) in 64 secondary- and tertiary-care hospitals and 673 nurses (13 questions) in 42 tertiary-care hospitals replied to a questionnaire survey. The results of the survey were analyzed with descriptive statistics. Results: Among the physicians surveyed, 97.0% (N=62) of hospitals had transfusion guidelines in place. The RBC wastage in 2018 ranged from less than five units to more than 200 units. Among the nurses surveyed, 99.4% (N=669) were aware of and complied with the 30-minute rule; 13.5% (N=91) of the nurses had experience of RBC wastage due to violation of the 30-minute rule. Both physicians (67%, N=43) and nurses (83.1%, N=559) responded that TIs would help reduce RBC wastage. Conclusions: This is the first survey on the practices related to RBC transport and storage in Korea. This study provides fundamental data on current practice for the blood cold chain, insights into RBC wastage, and highlights the utility of TIs.

Original Article2023-03-01 Diagnostic Hematology

Clinical, Mutational, and Transcriptomic Characteristics in Elderly Korean Individuals With Clonal Hematopoiesis Driver Mutations

Inki Moon , M.D., M.S., Min Gyu Kong , M.D., M.S., Young Sok Ji , M.D., M.S., Se Hyung Kim , M.D., Ph.D., Seong Kyu Park , M.D., Ph.D., Jon Suh , M.D., Ph.D., and Mi-Ae Jang , M.D., Ph.D.

Ann Lab Med 2023; 43(2): 145-152

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Abstract : Background: Clonal hematopoiesis of indeterminate potential (CHIP), which is defined as the presence of blood cells originating from somatically mutated hematopoietic stem cells, is common among the elderly and is associated with an increased risk of hematologic malignancies. We investigated the clinical, mutational, and transcriptomic characteristics in elderly Korean individuals with CHIP mutations. Methods: We investigated CHIP in 90 elderly individuals aged ≥60 years with normal complete blood counts at a tertiary-care hospital in Korea between June 2021 and February 2022. Clinical and laboratory data were prospectively obtained. Targeted next-generation sequencing of 49 myeloid malignancy driver genes and massively parallel RNA sequencing were performed to explore the molecular spectrum and transcriptomic characteristics of CHIP mutations. Results: We detected 51 mutations in 10 genes in 37 (41%) of the study individuals. CHIP prevalence increased with age. CHIP mutations were observed with high prevalence in DNMT3A (26 individuals) and TET2 (eight individuals) and were also found in various other genes, including KDM6A, SMC3, TP53, BRAF, PPM1D, SRSF2, STAG1, and ZRSR2. Baseline characteristics, including age, confounding diseases, and blood cell parameters, showed no significant differences. Using mRNA sequencing, we characterized the altered gene expression profile, implicating neutrophil degranulation and innate immune system dysregulation. Conclusions: Somatic CHIP driver mutations are common among the elderly in Korea and are detected in various genes, including DNMT3A and TET2. Our study highlights that chronic dysregulation of innate immune signaling is associated with the pathogenesis of various diseases, including hematologic malignancies.

Original Article2022-03-01 Transfusion Medicine

Perceptions and Experiences of Migrants in Korea Regarding Blood Donation in Association with Sociodemographic Status

Hyerin Kim , M.D., Kyung-Hwa Shin , M.D., Ph.D., Hyung-Hoi Kim , M.D., Ph.D., and Hyun-Ji Lee , M.D., Ph.D.

Ann Lab Med 2022; 42(2): 258-267

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Abstract : Background: With increasing number of migrants in Korea, there is an increasing need for blood products with rare blood antigens. Accordingly, the role of blood donors among migrants has been acknowledged. We investigated migrants’ experiences and perceptions of blood donation along with their sociodemographic status and identified the effects on self-reported blood donation status. Methods: A cross-sectional survey using a self-developed, structured questionnaire was conducted on 479 migrants. The questionnaire included items about experiences, knowledge, and perceptions on blood donation and sociodemographic factors of respondents. Results: Most migrants in this study were from Southeast Asia (54.7%) or China (39.9%). Among them, 28.6% (N=137) had donated blood previously, and 2.7% (N=13) had previously donated blood in Korea. All previous blood donors were volunteers, and the two major deterrents of blood donation for non-donors were the fear of pain and lack of knowledge about blood donation. In multivariable logistic regression analysis, the country of birth (odds ratio [OR]=2.65, P

Brief Communication2022-09-01 Diagnostic Hematology

Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation

Jikyo Lee , M.D., Sung Min Kim , B.S., Soonok Kim , M.T., Jiwon Yun , M.D., Dajeong Jeong , M.D., Young Eun Lee , M.D., Eun-Youn Roh , M.D., Ph.D., and Dong Soon Lee , M.D., Ph.D.

Ann Lab Med 2022; 42(5): 590-596

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Abstract : The translocation (3;21)(q26.2;q22.1) is a unique cytogenetic aberration that characterizes acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) in patients with AML and myelodysplastic syndrome (MDS) or a therapy-related myeloid neoplasm. Using multigene target sequencing and FISH, we investigated the clinical and genomic profiles of patients with t(3;21) over the past 10 years. The frequency of t(3;21) among myeloid malignancies was very low (0.2%). Half of the patients had a history of cancer treatment and the remaining patients had de novo MDS. Twenty-one somatic variants were detected in patients with t(3;21), including in CBL, GATA2, and SF3B1. Recurrent variants in RUNX1 (c.1184A>C, p.Glu395Ala) at the same site were detected in two patients. None of the patients with t(3;21) harbored germline predisposition mutations for myeloid neoplasms. MECOM rearrangement was detected at a higher rate using FISH than using G-banding, suggesting that FISH is preferable for monitoring. Although survival of patients with t(3;21) is reportedly poor, the survival of patients with t(3;21) in this study was not poor when compared with that of other AML patients in Korea.

Original Article2022-03-01 Clinical Microbiology

Diagnosis of Balamuthia mandrillaris Encephalitis by Thymine–Adenine Cloning Using Universal Eukaryotic Primers

Ju Yeong Kim , M.D., Ph.D., Myung-Hee Yi , Ph.D., Myungjun Kim , B.S., Joon-Sup Yeom , M.D., D.T.M.&H., Ph.D., Hyun Dong Yoo , M.D., Seong Min Kim , M.D., Ph.D., and Tai-Soon Yong , M.D., Ph.D.

Ann Lab Med 2022; 42(2): 196-202

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Abstract : Background: Identifying the causal pathogen of encephalitis remains a clinical challenge. A 50-year-old man without a history of neurological disease was referred to our department for the evaluation of an intracranial lesion observed on brain magnetic resonance imaging (MRI) scans, and the pathology results suggested protozoal infection. We identified the species responsible for encephalitis using thymine–adenine (TA) cloning, suitable for routine clinical practice. Methods: We extracted DNA from a paraffin-embedded brain biopsy sample and performed TA cloning using two universal eukaryotic primers targeting the V4-5 and V9 regions of the 18S rRNA gene. The recombinant plasmids were extracted, and the inserted amplicons were identified by Sanger sequencing and a homology search of sequences in the National Center for Biotechnology Information Basic Local Alignment Search Tool. Results: The infection was confirmed to be caused by the free-living amoeba Balamuthia mandrillaris. Two of 41 colonies recombinant with 18S V4-5 primers and 35 of 63 colonies recombinant with the 18S V9 primer contained B. mandrillaris genes; all other colonies contained human genes. Pathogen-specific PCR ruled out Entamoeba histolytica, Naegleria fowleri, Acanthamoeba spp., and Toxoplasma gondii infections. Conclusions: This is the first report of B. mandrillaris-induced encephalitis in Korea based on molecular identification. TA cloning with the 18S rRNA gene is a feasible and affordable diagnostic tool for the detection of infectious agents of unknown etiology.

Review Article2023-09-01

Artificial Intelligence in Point-of-Care Testing

Adil I. Khan , M.Sc., Ph.D., Mazeeya Khan , M.Sc., and Raheeb Khan , B.Sc.

Ann Lab Med 2023; 43(5): 401-407

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Abstract : With the projected increase in the global population, current healthcare delivery models will face severe challenges. Rural and remote areas, whether in developed or developing countries, are characterized by the same challenges: the unavailability of hospitals, lack of trained and skilled staff performing tests, and poor compliance with quality assurance protocols. Point-of-care testing using artificial intelligence (AI) is poised to be able to address these challenges. In this review, we highlight some key areas of application of AI in point-of-care testing, including lateral flow immunoassays, bright-field microscopy, and hematology, demonstrating this rapidly expanding field of laboratory medicine.

Letter to the Editor2022-03-01 Diagnostic Hematology

Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report

Hongkyung Kim , M.D., Hye Min Kim , M.D., Jin Ju Kim , M.D., Saeam Shin , M.D., Doh Yu Hwang , M.D., Seung-Tae Lee , M.D., and Jong Rak Choi , M.D.

Ann Lab Med 2022; 42(2): 282-285

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