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Minimal residual disease (MRD) following B-lymphoblastic leukemia (B-ALL) treatment has gained prognostic importance. Clonal immunoglobulin heavy chain (IGH) gene rearrangement is a useful follow-up marker in B-ALL owing to its high positivity rate. We evaluated the performance and clinical applicability of a next-generation sequencing (NGS) assay for IGH rearrangement in B-ALL MRD monitoring. IGH rearrangement was tested by using fluorescence PCR-fragment analysis and the NGS assay in eight B-ALL patients. The NGS assay was run on two platforms: the Ion Torrent PGM (Thermo Fisher Scientific, USA) (18 samples from 1st to 7th patients) and the MiSeq system (Illumina, USA) (four samples from 8th patient). All initial diagnostic samples and four follow-up samples were positive for clonal IGH rearrangement with fluorescence PCR-fragment analysis and the NGS assay, and six follow-up samples were positive only with NGS. In one case with BCR-ABL1 translocation, BCR-ABL1 quantitative PCR was negative but the NGS IGH assay was positive just prior to full-blown relapse, suggesting the high sensitivity and clinical utility of the NGS assay. The NGS assay is proposed for MRD monitoring in B-ALL Additional studies are needed to confirm the clinical implications of cases showing positive results only in NGS.
Fluorescence ; Follow-Up Studies ; Gene Rearrangement ; Humans ; Immunoglobulin Heavy Chains* ; Immunoglobulins* ; Leukemia* ; Neoplasm, Residual* ; Polymerase Chain Reaction ; Recurrence

7.PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.

Sun Mi CHO ; Saeam SHIN ; Kyung A LEE

Annals of Laboratory Medicine 2016;36(6):555-560

BACKGROUND: This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis. METHODS: The study population consisted of 116 Korean subjects (65 males, 51 females; mean age, 30.4 yr, range, 1-88 yr) diagnosed with idiopathic chronic pancreatitis (ICP), idiopathic recurrent acute pancreatitis (IRAP), or idiopathic acute pancreatitis (IAP). We analyzed sequences of targeted regions in the PRSS1, SPINK1, CFTR, and CTRC genes, copy numbers of PRSS1 and SPINK1, and clinical data from medical records. RESULTS: We identified three types of pathogenic PRSS1 variants in 11 patients, including p.N29I (n=1), p.R122H (n=1), and p.G208A (n=9). Sixteen patients exhibited heterozygous pathogenic variants of SPINK1, including c.194+2T>C (n=12), p.N34S (n=3), and a novel pathogenic splicing variation c.194+1G>A. A heterozygous CFTR p.Q1352H pathogenic variant was detected in eight patients. One patient carried a heterozygous CTRC p.P249L pathogenic variant, which is a known high-risk variant for pancreatitis. All patients had normal PRSS1 and SPINK1 gene copy numbers. Weight loss occurred more frequently in patients carrying the p.G208A pathogenic variant, while pancreatic duct stones occurred more frequently in patients with the c.194+2T>C pathogenic variant. CONCLUSIONS: Pathogenic variants of PRSS1, SPINK1, and CFTR were associated with idiopathic pancreatitis, while pathogenic variants of CTRC were not. Copy number variations of PRSS1 and SPINK1 were not detected.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group/*genetics ; Carrier Proteins/*genetics ; Child ; Child, Preschool ; Chymotrypsin/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; DNA Copy Number Variations ; Female ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Pancreatitis, Chronic/*genetics/pathology ; Polymorphism, Genetic ; Republic of Korea ; Trypsin/*genetics ; Young Adult

8.The Frequency of Unexpected Antibodies and Clinical Characteristics of Transfusion Candidates in a General Hospital During the Past 12 Years.

Saeam SHIN ; Yangsoon LEE ; Kwang Kuk YOON ; Yong Ah KIM

Journal of Laboratory Medicine and Quality Assurance 2012;34(2):99-105

BACKGROUND: Unexpected antibodies are an important cause of hemolytic transfusion reaction. Thus, unexpected antibody screening and identification tests should be performed before every transfusion. We evaluated the frequency and distribution of unexpected antibodies and the clinical characteristics of patients in a Korean secondary general hospital with 745 beds in the past 12 years. METHODS: Between March 2000 and October 2011, unexpected antibody screening and an identification test using the Bio-Rad ID-System (Bio-Rad, USA) were performed in 72,600 patients. RESULTS: Of the 72,600 patients, 467 (0.64%) showed positive results for antibody screening tests. Among them, alloantibodies were identified in 324 (69.4%) patients and the types of alloantibodies were not identified in 64 (13.7%) patients. Autoantibodies were detected in 71 (15.2%) patients and panagglutination reactions were detected in 8 (1.7%). Of the 467 cases, 164 (35.1%) had a history of transfusion in our hospital. Among the 324 patients in whom alloantibodies were identified, anti-E (37.3%), anti-Lea (16.7%), anti-E and anti-c (14.8%), anti-C and anti-e (5.6%), anti-Leb (4.9%), anti-D (4.6%), anti-Jka (3.1%), anti-S (2.5%), and anti-M (1.9%) were detected. In 41 of the 324 (12.7%) of these patients, the types of antibodies were identified with the NaCl/Enzyme gel test but not with the LISS/Coombs gel test. CONCLUSIONS: Among the 467 patients, 130 (27.8%) in whom unexpected antibodies were detected, were scheduled for surgery. Because 101 of these 130 patients (77.7%) were unimmunized, unexpected antibody screening may be important in secondary hospitals with patients who do not have a detailed transfusion history. We identified Rh, P, and Lewis group antibodies more efficiently with a combination of the LISS/Coombs gel test and the NaCl/Enzyme gel test.
Antibodies ; Autoantibodies ; Blood Group Incompatibility ; Hospitals, General ; Humans ; Isoantibodies ; Mass Screening

9.Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia.

Nae YU ; Saeam SHIN ; Jong Rak CHOI ; Yoonjung KIM ; Kyung A LEE

Annals of Laboratory Medicine 2017;37(2):177-179

10.Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray.

Moonhee OH ; In Jeong CHO ; Saeam SHIN ; Seung Tae LEE ; Jong Rak CHOI

Annals of Laboratory Medicine 2016;36(2):191-193

1.First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome.

2.A Case of STIL-TAL1-positive T-lymphoblastic Leukemia With a Minor Philadelphia-positive Clone

3.Isochromosome 1q in Childhood Burkitt Lymphoma: The First Reported Case in Korea.

4.Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia.

5.Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion.

6.Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia.

7.PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.

8.The Frequency of Unexpected Antibodies and Clinical Characteristics of Transfusion Candidates in a General Hospital During the Past 12 Years.

9.Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia.

10.Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray.

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