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A Case of Primary Bone Marrow Diffuse Large B-cell Lymphoma Presenting With Fibrillar Projections and Hemophagocytic Lymphohistiocytosis.

Min Sun KIM ; Young Uk CHO ; Seongsoo JANG ; Eul Ju SEO ; Jung Hee LEE ; Chan Jeoung PARK

Annals of Laboratory Medicine.2017;37(6):544-546. doi:10.3343/alm.2017.37.6.544

No abstract available.
B-Lymphocytes* ; Bone Marrow* ; Lymphohistiocytosis, Hemophagocytic* ; Lymphoma, B-Cell*

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Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis.

In Young YOO ; Ju Sun SONG ; Chang Seok KI ; Jong Won KIM ; Hoon Suk CHA ; Yong Ki MIN

Annals of Laboratory Medicine.2017;37(6):540-543. doi:10.3343/alm.2017.37.6.540

Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas. Sanger sequencing of LEMD3 revealed a four-base-pair deletion in intron 2 (c.1560+3_1560+6del), which was inherited from his father. We found that this four-base-pair deletion in intron 2 causes aberrant splicing and consequent deletion of exon 2. To the best of our knowledge, this is the first report of genetically confirmed osteopoikilosis in Korea.
Bone Morphogenetic Proteins ; Exons ; Fathers ; Humans ; Introns* ; Korea ; Low Back Pain ; Nuclear Envelope ; Osteopoikilosis* ; Sciatica ; Skeleton ; Transforming Growth Factors ; Young Adult

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Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.

Jong Min KIM ; Chung LEE ; Ga In LEE ; Nayoung K D KIM ; Chang Seok KI ; Woong Yang PARK ; Byoung Joon KIM ; Sang Jin KIM

Annals of Laboratory Medicine.2017;37(6):536-539. doi:10.3343/alm.2017.37.6.536

Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull's eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes prominin-1, which is a 5-transmembrane glycoprotein also known as CD133 and is involved in photoreceptor disk morphogenesis. PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa. We report a case of STGD4 with a PROM1 p.R373C mutation in a Korean patient. Ophthalmic examinations of a 38-yr old man complaining of decreased visual acuity revealed bilateral atrophic macular lesions consistent with STGD4. Targeted exome sequencing of known inherited retinal degeneration genes revealed a heterozygous missense mutation c.1117C>T (p.R373C) of PROM1, which was confirmed by Sanger sequencing. To the best of our knowledge, this is the first case of a PROM1 mutation causing STGD4 in Koreans.
Atrophy ; Exome ; Glycoproteins ; Humans ; Macular Degeneration* ; Morphogenesis ; Mutation, Missense ; Retinal Degeneration ; Retinal Pigment Epithelium ; Retinitis Pigmentosa ; Visual Acuity

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Comparison of a New Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry Platform, ASTA MicroIDSys, With Bruker Biotyper for Species Identification.

Yangsoon LEE ; Ji Yeon SUNG ; Hyunsoo KIM ; Dongeun YONG ; Kyungwon LEE

Annals of Laboratory Medicine.2017;37(6):531-535. doi:10.3343/alm.2017.37.6.531

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, with its accuracy and speed, is widely used for bacterial identification. The ASTA MicroIDSys system (ASTA, Korea) was recently developed for species identification. We compared its performance with that of Bruker Biotyper (Bruker Daltonics, Germany). Microbes were recovered from sputum, urine, and pus samples from patients admitted to a tertiary care hospital in Korea from January to April 2016. Matrix solution (α-cyano-4-hydroxycinnamic acid) was used, and the peptide profiles acquired from the Microflex LT (Bruker Daltonics) and Tinkerbell LT (ASTA) were analyzed by using their respective software. From 5,322 isolates, Bruker Biotyper identified 163 species; fifty species from 4,919 isolates were identified more than 10 times, including Klebsiella pneumoniae (n=571), Acinetobacter baumannii (n=436), Pseudomonas aeruginosa (n=358), Escherichia coli (n=372), Staphylococcus aureus (n=511), S. epidermidis (n=444), Enterococcus faecium (n=262), E. faecalis (n=220), and Candida albicans (n=248). Identical results, confidence scores (≥ 2.0 for Bruker Biotyper), and acceptable scores (≥140 for ASTA MicroIDSys) were obtained for 86.1% of isolates. Of 4,267 isolates, 99.2% showed acceptable scores in both systems. Results from the ASTA MicroIDSys showed good agreement with those from the Bruker Biotyper. The ASTA MicroIDSys could reliably identify clinically important microorganisms.
Acinetobacter baumannii ; Candida albicans ; Enterococcus faecium ; Escherichia coli ; Humans ; Klebsiella pneumoniae ; Korea ; Mass Spectrometry* ; Pseudomonas aeruginosa ; Sputum ; Staphylococcus aureus ; Suppuration ; Tertiary Healthcare

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Clinical Usefulness of Human Epididymis Protein 4 in Lung Cancer.

Soo In CHOI ; Mi Ae JANG ; Byung Ryul JEON ; Hee Bong SHIN ; You Kyoung LEE ; Yong Wha LEE

Annals of Laboratory Medicine.2017;37(6):526-530. doi:10.3343/alm.2017.37.6.526

Human epididymis protein 4 (HE4) has been suggested as a useful new biomarker of lung cancer; however, few relevant large-scale studies have been published. In this study, we evaluated the utility of serum HE4 for lung cancer detection. HE4 levels were measured in serum samples from 100 lung cancer patients, 57 patients with benign lung diseases, and 274 healthy controls by using a chemiluminescent immunoassay, and variations in HE4 levels were analyzed by clinical status such as lung cancer, benign lung disease, and healthy condition, Tumor, Lymph Nodes, Metastasis (TNM) stage, tumor score, and histological cancer type. Lung cancer patients had significantly higher serum HE4 levels than patients with benign lung diseases and healthy controls (P<0.0001). The area under the ROC curve for HE4 was 0.84 (95% confidence interval, 0.78–0.89; P<0.0001) between lung cancer patients and healthy controls. Serum HE4 levels were significantly higher in patients with advanced disease (according to TNM stage) than in healthy controls (P<0.0001). HE4 levels were significantly elevated in patients with tumors of all types, those of different histological subgroups, and those with the smallest tumors (P=0.002). This report supports the potential of serum HE4 as an ancillary diagnostic marker for lung cancer detection.
Biomarkers, Tumor ; Epididymal Secretory Proteins ; Humans* ; Immunoassay ; Lung Diseases ; Lung Neoplasms* ; Lung* ; Lymph Nodes ; Male ; Neoplasm Metastasis ; ROC Curve

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Evaluation of the Triage TOX Drug Screen Assay for Detection of 11 Drugs of Abuse and Therapeutic Drugs.

Hae In BANG ; Mi Ae JANG ; Yong Wha LEE

Annals of Laboratory Medicine.2017;37(6):522-525. doi:10.3343/alm.2017.37.6.522

The demand for rapid and broad clinical toxicology screens is on the rise. Recently, a new rapid toxicology screening test, the Triage TOX Drug Screen (Alere Inc., USA), which can simultaneously detect 11 drugs of abuse and therapeutic drugs with an instrument-read cartridge, was developed. In the present study, we evaluated the efficacy of this new on-site immunoassay using 105 urine specimens; the results were compared with those obtained by using ultra-performance liquid chromatography with tandem mass spectrometry (UPLC-TMS). Precision was evaluated according to the CLSI EP12-A2 for analyte concentrations near the cutoff, including C₅₀ and±30% of C₅₀, for each drug using standard materials. The C₅₀ specimens yielded 35–65% positive results and the ±30% concentration range of all evaluated drugs encompassed the C₅–C₉₅ interval. The overall percent agreement of the Triage TOX Drug Screen was 92.4–100% compared with UPLC-TMS; however, the Triage TOX Drug Screen results showed some discordant cases including acetaminophen, amphetamine, benzodiazepine, opiates, and tricyclic antidepressants. The overall performance of the Triage TOX Drug Screen assay was comparable to that of UPLC-TMS for screening of drug intoxication in hospitals. This assay could constitute a useful screening method for drugs of abuse and therapeutic drugs in urine.
Acetaminophen ; Amphetamine ; Antidepressive Agents, Tricyclic ; Benzodiazepines ; Chromatography, Liquid ; Immunoassay ; Mass Screening ; Methods ; Street Drugs* ; Tandem Mass Spectrometry ; Toxicology ; Triage*

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A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.

Sun Ah CHOI ; Soo Yeon KIM ; Jihoo YOON ; Joongmoon CHOI ; Sung Sup PARK ; Moon Woo SEONG ; Hunmin KIM ; Hee HWANG ; Ji Eun CHOI ; Jong Hee CHAE ; Ki Joong KIM ; Seunghyo KIM ; Yun Jin LEE ; Sang Ook NAM ; Byung Chan LIM

Annals of Laboratory Medicine.2017;37(6):516-521. doi:10.3343/alm.2017.37.6.516

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations. A founder effect of the p.Ala275Asp variant was demonstrated by haplotype analysis using single-nucleotide polymorphic (SNP) markers. Multiple ligation-dependent probe amplification (MLPA) and comparative genomic hybridization plus SNP array were used to detect exonic deletions or uniparental disomy (UPD). RESULTS: The most prevalent pathogenic variant was c.824C>A (p.Ala275Asp) found in 7/10 (70%) alleles. Two pathogenic frameshift variants were found: c.135delC (p.Cys46Alafs*12) and c.337_353delinsG (p.Ile113Glyfs*4). Haplotype analysis suggested that the Korean patients with MLC harbored a founder mutation in p.Ala275Asp. The p.(Ile113Glyfs*4) was identified in a homozygous state, and a family study revealed that only the mother was heterozygous for this variant. Further analysis of MLPA and SNP arrays for this patient demonstrated loss of heterozygosity of chromosome 22 without any deletion, indicating UPD. The maternal origin of both chromosomes 22 was demonstrated by haplotype analysis. CONCLUSIONS: This study is the first to describe the mutational spectrum of Korean patients with MLC, demonstrating a founder effect of the p.Ala275Asp variant. This study also broadens our understanding of the mutational spectrum of MLC1 by demonstrating a homozygous p.(Ile113Glyfs*4) variant resulting from UPD of chromosome 22.
Alleles ; Chromosomes, Human, Pair 22* ; Comparative Genomic Hybridization ; Exons ; Founder Effect ; Haplotypes ; Humans ; Leukoencephalopathies* ; Loss of Heterozygosity ; Megalencephaly ; Mothers ; Seizures ; Uniparental Disomy*

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Comparison of Traditional and Reverse Syphilis Screening Algorithms in Medical Health Checkups.

Eun Hee NAH ; Seon CHO ; Suyoung KIM ; Han Ik CHO ; Jong Yil CHAI

Annals of Laboratory Medicine.2017;37(6):511-515. doi:10.3343/alm.2017.37.6.511

BACKGROUND: The syphilis diagnostic algorithms applied in different countries vary significantly depending on the local syphilis epidemiology and other considerations, including the expected workload, the need for automation in the laboratory and budget factors. This study was performed to investigate the efficacy of traditional and reverse syphilis diagnostic algorithms during general health checkups. METHODS: In total, 1,000 blood specimens were obtained from 908 men and 92 women during their regular health checkups. Traditional screening and reverse screening were applied to the same specimens using automatic rapid plasma regain (RPR) and Treponema pallidum latex agglutination (TPLA) tests, respectively. Specimens that were reverse algorithm (TPLA) reactive, were subjected to a second treponemal test performed by using the chemiluminescent microparticle immunoassay (CMIA). RESULTS: Of the 1,000 specimens tested, 68 (6.8%) were reactive by reverse screening (TPLA) compared with 11 (1.1%) by traditional screening (RPR). The traditional algorithm failed to detect 48 specimens [TPLA(+)/RPR(−)/CMIA(+)]. The median TPLA cutoff index (COI) was higher in CMIA-reactive cases than in CMIA-nonreactive cases (90.5 vs 12.5 U). CONCLUSIONS: The reverse screening algorithm could detect the subjects with possible latent syphilis who were not detected by the traditional algorithm. Those individuals could be provided with opportunities for evaluating syphilis during their health checkups. The COI values of the initial TPLA test may be helpful in excluding false-positive TPLA test results in the reverse algorithm.
Agglutination ; Automation ; Budgets ; Epidemiology ; Female ; Humans ; Immunoassay ; Latex ; Male ; Mass Screening* ; Plasma ; Syphilis* ; Syphilis, Latent ; Treponema pallidum

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Utility of a Direct 16S rDNA PCR and Sequencing for Etiological Diagnosis of Infective Endocarditis.

Min Sun KIM ; Jeonghyun CHANG ; Mi Na KIM ; Sang Ho CHOI ; Sung Ho JUNG ; Jae Won LEE ; Heungsup SUNG

Annals of Laboratory Medicine.2017;37(6):505-510. doi:10.3343/alm.2017.37.6.505

BACKGROUND: Cases of infective endocarditis (IE) require prompt etiological diagnosis for effective treatment. Molecular methods can aid in rapid and reliable diagnosis of culture-negative IE cases. We evaluated the utility of 16S rDNA PCR and sequencing in determining the causative agents of IE in valve tissues, especially when specimens were obtained after initiation of antimicrobial therapy. METHODS: We performed 16S rDNA PCR and sequencing in heart valve specimens and medical records review of 80 patients who underwent protocol-based cardiac surgery from 2013 to 2015. One patient did not meet the criteria for IE. Sixty-five (81.3%) and 14 pa-tients (17.5%) were diagnosed as having definite IE and possible IE, respectively. Blood and heart valve biopsy tissue were examined by using routine microbiological methods. RESULTS: Blood cultures in our hospital were IE-positive for 33 patients (41.8%), whereas 49 patients (62.0%) showed positive blood cultures when initial blood cultures performed at the referring hospital were included. Eighteen (22.8%) and 40 patients (50.6%) were IE-positive in valve tissue cultures and 16S rDNA PCR, respectively. Bacteria in the Streptococcus mitis group (n=26) were the most common etiological agents of IE. Eight (10.1%) culture-negative specimens tested positive by 16S rDNA PCR. In five of eight PCR-positive and culture-negative cases, fastidious or anaerobic organisms were the cause of IE. CONCLUSIONS: Direct 16S rDNA PCR and sequencing can be used as a supplementary method to conventional blood and biopsy culture testing, especially in culture-negative IE cases that are negative for IE by culture.
Bacteria ; Biopsy ; Diagnosis* ; DNA, Ribosomal* ; Endocarditis* ; Heart Valves ; Humans ; Medical Records ; Methods ; Polymerase Chain Reaction* ; Streptococcus mitis ; Thoracic Surgery

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Multicenter Evaluation of an Image Analysis Device (APAS): Comparison Between Digital Image and Traditional Plate Reading Using Urine Cultures.

John GLASSON ; Rhys HILL ; Michael SUMMERFORD ; Dianne OLDEN ; Fotula PAPADOPOULOS ; Stephen YOUNG ; Steven GIGLIO

Annals of Laboratory Medicine.2017;37(6):499-504. doi:10.3343/alm.2017.37.6.499

BACKGROUND: The application of image analysis technologies for the interpretation of microbiological cultures is evolving rapidly. The primary aim of this study was to establish whether the image analysis system named Automated Plate Assessment System (APAS; LBT Innovations Ltd., Australia) could be applied to screen urine cultures. A secondary aim was to evaluate differences between traditional plate reading (TPR) and the reading of cultures from images, or digital plate reading (DPR). METHODS: A total of 9,224 urine samples submitted for culture to three clinical laboratories, two in Australia and one in the USA, were included in the study. Cultures were prepared on sheep blood and MacConkey agar plates and read by panels of three microbiologists. The plates were then presented to APAS for image capture and analysis, and the images and results were stored for later review. RESULTS: Image analysis of cultures using APAS produced a diagnostic sensitivity and specificity of 99.0% and 84.5%, respectively. Colonies were detected by APAS on 99.0% of blood agar plates with growth and on 99.5% of MacConkey agar plates. DPR agreed with TPR for colony enumeration on 92.1% of the plates, with a sensitivity of 90.8% and specificity of 92.8% for case designation. However, several differences in the classification of colony morphologies using DPR were identified. CONCLUSIONS: APAS was shown to be a reliable screening system for urine cultures. The study also showed acceptable concordance between DPR and TPR for colony detection, enumeration, and case designation.
Agar ; Australia ; Classification ; Mass Screening ; Sensitivity and Specificity ; Sheep

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