Letter to the Editor2022-03-01 Diagnostic Hematology
Shinae Yu 
, M.D., Sae Am Song , M.D., Ph.D., Kyung Ran Jun , M.D., Ph.D., Ha Young Park , M.D., and Jeong Nyeo Lee , M.D., Ph.D.
Brief Communication2022-09-01 Diagnostic Hematology
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.
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 Transfusion Medicine
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.
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
Original Article2022-03-01 Clinical Microbiology
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.
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.
Original Article2022-11-01 Clinical Chemistry
Misuk Ji , M.D., Ph.D., Kwang-Rae Kim , M.D., Ph.D., Hyun-Ki Kim , M.D., Woochang Lee , M.D., Ph.D., Yeo-Min Yun , M.D., Ph.D., Sail Chun , M.D., Ph.D., and Won-Ki Min , M.D., Ph.D.
Abstract : Background: Anti-Müllerian hormone (AMH) is one of the most reliable markers of ovarian reserve. Automated AMH assays are widely used in clinical laboratories, but reference intervals for the Elecsys AMH assay for Asian populations have not yet been determined. We aimed to determine reference intervals in healthy Korean women. Methods: The study included 1,450 women aged 19 to 54 years who participated in the Korea National Health and Nutrition Examination Survey between 2013 and 2016. The study participants were divided into seven 5-year age groups. AMH and progesterone concentrations were measured using Roche Elecsys assays, and bone morphogenetic protein-15 (BMP15) was genotyped for the detection of major variants. Age group-specific reference intervals for AMH were established as recommended by the CLSI EP28-A3c guidelines. Results: The mean age was 37.4 years. AMH concentrations decreased with increasing age, especially after 40 years, with the median AMH decreasing from 30.9 pmol/L in participants of 19–24 years to 0.071 pmol/L in participants of 50–54 years. The mid-95 percentile AMH reference intervals decreased from 7.93–81.21 pmol/L in participants of 19–24 years to 0.07–3.86 pmol/L in participants of 50–54 years. Disease-associated BMP15 variants were not detected. Conclusions: We determined Elecsys AMH assay reference intervals in healthy Korean women. The results may provide basic information for the interpretation of AMH concentrations and assessment of ovarian reserve in Korean women.
Letter to the Editor2021-11-01 Diagnostic Hematology
Jee Ah Kim , M.D., Hyun-Young Kim , M.D., Seok Jin Kim , M.D., Hee-Jin Kim , M.D., and Sun-Hee Kim , M.D.
Original Article2022-05-01 Diagnostic Genetics
Sun Joo Yoon , M.D. , Won Kyung Kwon , M.D., Ph.D., Geehay Hong , M.D., Ja-Hyun Jang , M.D., Ph.D., Byong Chang Jeong , M.D., Ph.D., Jae Hyeon Kim , M.D., Ph.D., and Jong-Won Kim , M.D., Ph.D.
Abstract : Background: von Hippel–Lindau (VHL) disease is an autosomal dominant disorder caused by variants of the VHL tumor suppressor gene (VHL). Early detection and treatment are essential to prevent morbidity and mortality. We evaluated the effectiveness of surveillance strategies and the utility of a VHL clinic with a multidisciplinary team for the first time in Korea. Methods: The VHL clinic was organized at the Samsung Medical Center in 2011 and consisted of a multidisciplinary team, including an endocrinologist, urologist, general surgeon, neurosurgeon, ophthalmologist, otolaryngologist, and radiologist. Biochemical and imaging surveillance and personalized genetic counseling were conducted at the VHL clinic and patients were referred to the necessary departments upon detection of disease manifestation. We divided the patients in three groups (I–III) based on their compliance to VHL clinic attendance. Results: Between 2011 and 2018, 50 VHL patients were identified by VHL molecular analysis and referred to the VHL clinic. Most patients regularly participated in imaging of the central nervous system (43/50, 86.0%) and of the abdomen (46/50, 92.0%). However, there were differences in compliance to determination of the catecholamine level, audiometry, and ophthalmic examination among the three groups. Conclusions: We present the results of using a multidisciplinary team approach and showed that the VHL clinic strategy is useful for the comprehensive surveillance and management of VHL disease. We hope that VHL clinics will be widely set up in hospitals to improve prognosis in patients with VHL.
Letter to the Editor2022-05-01 Clinical Microbiology
Sang Hyuk Park , M.D., Ph.D., Hyun-Ki Kim , M.D., Hang Kang , Ph.D., Jung Heon Kim , Ph.D., Jaeseung Lee , M.S., Ji-Hun Lim , M.D., Ph.D., Seon-Ho Lee , M.D., Ph.D., and Joseph Jeong , M.D., Ph.D.
Brief Communication2022-05-01 Clinical Microbiology
Junhyup Song , M.D., Shinyoung Yoon , M.D., Yongha In , Ph.D., Daewon Kim , M.D., Hyukmin Lee , M.D., Dongeun Yong , M.D., Ph.D., and Kyoungwon Lee , M.D.
Abstract : Identifying Mycobacterium using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) is challenging. We evaluated the performance of MALDI-TOF MS in identifying nontuberculous mycobacteria (NTM) using the ASTA MicroIDSys system (ASTA Inc., Suwon, Korea) with the MycoDB v1.95s and upgraded MycoDB v2.0-beta databases. We tested 124 NTM isolates collected from Ogawa medium at Severance Hospital, Seoul, Korea, between January and April 2019. MicroIDSys scores were categorized into three groups: ≥140, reliable identification; 130–139, ambiguous identification; and
Editorial2021-07-01
Sun Young Cho , M.D., Ph.D. and Mina Hur , M.D., Ph.D.
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