A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy

No abstract available.

A Case of Bone Marrow Necrosis in B-Acute Lymphoblastic Leukemia with Philadelphia Chromosome at Presentation

Bone marrow necrosis (BMN) is a pathologic state which is derived from various disease entities. Most commonly, it is accompanied by hematologic malignancies such as acute leukemia. The patients with marrow necrosis are generally known to have dismal prognoses but variations exist according to early diagnosis. Here we report a case of BMN in an acute lymphoblastic leukemia patient with Philadelphia chromosome at presentation.

Platelet Function Analyzer-200 P2Y Results Are Predictive of the Risk of Major Adverse Cardiac Events in Korean Patients Receiving Clopidogrel Therapy Following Acute Coronary Syndrome

BACKGROUND: Clopidogrel is one of the most commonly used anti-platelet agents in cardiovascular diseases. We analyzed the relationship between the platelet function analyzer (PFA)-200 P2Y (INNOVANCE PFA-200 System, Siemens Healthcare, Germany) results and occurrence of major adverse cardiac events (MACEs) in Korean patients with recent-onset acute coronary syndrome (ACS) taking clopidogrel. METHODS: Between August 2013 and June 2016, we prospectively enrolled 106 patients with recent-onset ACS who had been treated with clopidogrel. We obtained blood samples and measured closure time (CT) using the PFA-200 P2Y test. Patients were divided into two groups on the basis of a CT cut-off value of 106 seconds. We compared patient characteristics and various MACEs that occurred during the follow-up period. RESULTS: The CTs for 78 patients exceeded the cut-off value. At the time of these analyses, 11 patients had been diagnosed with MACEs. In the time-to-event analysis, there was a difference between the two groups (P<0.001). After adjusting other variables associated with MACE occurrence, CT value was the strongest predictor of MACEs, with a 7.30-fold occurrence risk (P=0.002). CONCLUSIONS: We found a strong relationship between CT and MACE risk in Korean patients with recent-onset ACS taking clopidogrel. Accordingly, PFA-200 P2Y results could be used as a predictive marker for MACE risk in such patients.

A Case with Changes in Autoantibodies with Mimicking Specificity in a Patient with Hepatocellular Carcinoma / 대한수혈학회지

Changes in autoantibodies with mimicking specificity for Rh antigens are quite rare. Here, we report a 73-year-old male patient with hepatocellular carcinoma that showed changes in the autoantibodies with mimicking specificity. He was admitted to our hospital with mental alterations and hypoglycemia. The antibody identification test for RBC transfusion showed a pattern of agglutination, suggesting anti-E alloantibody and anti-c autoantibody. The patient was then diagnosed with hepatocellular carcinoma, and after 18 months, the antibody identification test showed a different pattern of agglutination, suggesting anti-E alloantibody and anti-C autoantibody. We recommend a careful evaluation to make sure an appropriate transfusion is performed when encountering fluctuating autoantibodies with mimicking specificity.

Revisiting the Pre-transfusion Test: A Case of Acute Hemolytic Transfusion Reaction due to Multiple Alloantibodies of Anti-E, Anti-c, Anti-Jk(b) / 대한수혈학회지

We report a case of acute hemolytic transfusion reaction due to multiple alloantibodies. A 41-year-old male with multiple histories of transfusion was admitted for jaundice and oliguria after receiving two units of red blood cells in a local clinic. He showed acute renal failure and disseminated intravascular coagulation. Direct Coombs test was negative and antibody screening test showed strong positive results. Anti-E, anti-c, and anti-Jk(b) antibodies were identified in two panels of unexpected antibody assays. Acute hemolytic transfusion was diagnosed, and he was discharged after 1 month of supportive treatment. Unexpected antibody detection tests, including the antiglobulin phase, should be performed to prevent adverse transfusion reactions by unexpected antibodies. Better precision and quality control are necessary when performing pre-transfusion tests.

A Case of Acute Promyelocytic Leukemia with Co-existence of BCR-ABL1 and PML-RARA Rearrangements Detected by PCR

Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia (AML) characterized by PML-RARA fusion and specific morphology. The BCR-ABL1 rearrangement is mainly observed in patients with chronic myeloid leukiemia (CML). However, it is also found in patients with acute lymphoblastic leukemia (ALL) and in a few patients with AML. However, it is very rarely observed in patients with APL. Here, we report a case of APL with t(15;17) and co-existence of PML-RARA and BCR-ABL1. Further study with more cases is warranted to find the right treatment and prognostic significance.

NUP98 Rearrangement in Acute Myelomonocytic Leukemia With t(11;19)(p15;p12): The First Case Report Worldwide

No abstract available.

A Rare der(Y)t(Y;1)(q12;q12) in a Patient with Essential Thrombocythemia

Among hematologic diseases, structural abnormalities of autosomal chromosomes are well-known, but cases involving the sex chromosomes are uncommon. Duplications of the long arm of chromosome 1 have been reported in several hematologic diseases including myelodysplastic syndrome, myeloproliferative neoplasms, acute myeloid leukemia, acute lymphoblastic leukemia, and Burkitt lymphoma. However, dup(1q) as a der(Y)t(Y;1)(q12;q12) is very rare. Here, we report a case of essential thrombocythemia harboring der(Y)t(Y;1)(q12;q12) with literature review.

Evaluation of Platelet count by the CELL-DYN Sapphire CD61 Immunoplatelet Method in Patients with Hematologic Diseases Receiving Chemotherapy

BACKGROUND: The automated hematologic analyzer has increased the precision and accuracy for platelet counting. However, spurious elevations of automated platelet counts occur occasionally in patients receiving chemotherapy or radiotherapy for solid organ tumors, leukemia, and other lymphomas. The CELL-DYN Sapphire analyzer (Abbott, USA) detects platelets with a CD61 monoclonal antibody and uses both impedance and optical technologies; thus, it is expected to present more accurate platelet counts. METHODS: We evaluated platelet counts obtained with the CELL-DYN Sapphire impedance, optical, and CD61 methods and compared them with the results obtained with the XE-2100 analyzer (Sysmex, Japan). We analyzed 111 samples from hospitalized patients with various hematologic diseases, who were receiving chemotherapy or radiotherapy. RESULTS: The results from the impedance, optical, and CD61 methods of CELL-DYN Sapphire and those from XE-2100 showed significant linearity, with correlation coefficients greater than 0.99. Three cases had significantly different platelet counts among the different methods used. Microscopic examination of these three cases showed very low platelet counts that corresponded with the low counts from the CD61 methods. It should be noted that because the automated blood counter assesses cell populations by their dimensions, many cellular fragments that were of the same size or smaller than platelets were thus counted as platelets. CONCLUSIONS: The CELL-DYN Sapphire analyzer has good precision, linearity and performance, comparable with the XE-2100 analyzer. As the CD61 methods of CELL-DYN Sapphire is specific for platelet, this method may reduce the interference from other blood components and count the exact platelet numbers.

Difference of Rh Phenotype between Irregular Antibody Positive Patients and RhD Positive Population in Korea / 대한수혈학회지

BACKGROUND: The Rh system is the most important blood group after ABO in the transfusion field. Nearly half of irregular antibodies with specificity are related to Rh antigens in Korea. Formation of alloantibody for red blood cells is considered variable according to Rh phenotype of patients. We therefore studied the significance of Rh phenotype in Korean irregular antibody positive patients. METHODS: We performed retrospective reviews for the results of antibody identification tests performed from Jun. 2004 to Nov. 2013 in our university medical center. Rh phenotype, direct antiglobulin test, and antibody specificity were investigated. Rh phenotype was tested using RhD+ phenotype ID-card (DiaMed GmBH, Switzerland). RESULTS: A total of 504 patients were included. Of 504 patients, 495 (98.2%) were RhD positive. The proportion of Rh phenotype differed significantly between irregular antibody positive patients and known RhD positive Korean population in CDe phenotype (59.0% vs 39.4%, P<0.0001) and CcDEe phenotype (22.6% vs 38.4%, P<0.0001), respectively. The percentage of other Rh phenotype was not different in two groups. Formation of anti-E antibody in E negative patients was significantly higher than that of anti-C formation in C negative patients (P<0.0001). Sixteen patients showed antibodies with specificity for their own Rh system antigens. CONCLUSION: A significant disproportion of Rh phenotype was observed between irregular antibody positive patients and RhD positive Korean population. There would be a difference of immunogenicity among C/c and E/e antigens. E antigen matching might be considered first for patient required chronic transfusion if additional RBC matching would be implemented.

Diagnostic Utility of Multiprobe Fluorescence in situ Hybridization Assay for Detecting Cytogenetic Aberrations in Acute Leukemia

BACKGROUND: Specific cytogenetic aberrations detected by conventional karyotyping or FISH play a major role in the diagnosis, prognosis, and treatment of patients with acute leukemia. The FISH technique enhances the capacity of conventional karyotyping to detect subtle chromosomal aberrations. Multiprobe FISH assay (Cytocell, UK) can hybridize multiple probes to a single slide, thereby increasing the detection rate of cytogenetic aberrations. This study aimed to evaluate multiprobe FISH in detecting cytogenetic abnormalities in acute leukemia. METHODS: Thirty newly diagnosed acute leukemia patients who attended the hematology clinic at Dong-A University Hospital from October 2008 to October 2012 were enrolled in the study. The multiprobe FISH results were compared with those of G-banding. RESULTS: Multiprobe FISH detected the chromosomal aberrations identified by G-banding, as well as additional aberrations in 6 of 30 (20.0%) cases, which included ETV6/RUNX1 translocation, p16 deletion, TP53 deletion, and IGH break-apart. CONCLUSIONS: The multiprobe FISH assay was a more sensitive and reliable technique compared with G-banding. It was also more cost-effective and yielded faster results.

Outbreak of Pseudomonas Oryzihabitans Pseudobacteremia Related to Contaminated Equipment in an Emergency Room of a Tertiary Hospital in Korea

Pseudomonas oryzihabitans is frequently found in various sites within hospital settings, including sink drains and respiratory therapy equipment. Although it rarely causes human infections, P. oryzihabitans has recently been considered a potential nosocomial pathogen, especially in immunocompromised hosts. We report our experience of an outbreak of P. oryzihabitans pseudobacteremia, presumably due to faulty aseptic preparation of a saline gauze canister.

Shigella boydii Bacteremia in an Ederly Patient with No Underlying Disease / 대한임상미생물학회지

Shigella bacteremia is rare, occurring mainly in children. Shigella species often cause diarrhea or gastrointestinal inflammation in humans and are rarely associated with bacteremia. This report describes an unusual case of Shigella boydii bacteremia in an 84-year-old patient visiting our hospital after experiencing nausea, vomiting, and febrile sensation for 2 days. Peripheral blood cultures revealed S. boydii and 16S rDNA sequence analysis produced the same result. However, the organism was not isolated from the patient's stool. She was started on ciprofloxacin, to which this organism is sensitive, and was subsequently discharged with instructions to complete a 14-day course of ciprofloxacin. Shigellosis is usually a self-limiting enteric disease. However, in contrast to its isolation from both blood and stool, isolation of the organism from blood only is associated with a high mortality rate. As is frequently pointed out, blood cultures should be obtained from elderly or immunocompromised patients with acute febrile gastroenteritis to detect infection caused by enteric pathogens, including Shigella.

A Rare Case of a de novo Proximal Deletion of 13q in a Neonate with Congenital Megacolon

Chromosome 13q deletion syndrome, which is relatively rare, is characterized by a wide spectrum of phenotypes resulting from a partial deletion of the long arm of the chromosome 13. The main clinical features are mental retardation, developmental delay, craniofacial dysmorphism, and various congenital defects. Here, we report a de novo interstitial deletion in chromosome 13 (q21.3q31) in a neonate with congenital megacolon (Hirschsprung disease) confirmed by biopsy. A short tandem repeat analysis (D13S317) was used to compare the loci on the chromosomes of the patient and the parents, the latter representing the normal karyotype, to determine how the features of the profile peaks relate to the deletion. The clinical data were also compared with those of similar cases in previously published reports.

A Case of Clostridium difficile Bacteremia in a Patient with Loop Ileostomy

Clostridium difficile, an anaerobic, spore-forming, gram-positive, rod-shaped bacterium, is the most common nosocomial pathogen causing pseudomembranous colitis. C. difficile is not intrinsically invasive and rarely infects extraintestinal sites. The bacterium, therefore, is not commonly detected in blood cultures. Here, we report a case of C. difficile bacteremia in a patient who had underwent loop ileostomy because of rectal obstruction following metastatic colon cancer originated from prostate cancer.

A Case of Clostridium difficile Bacteremia in a Patient with Loop Ileostomy

Clostridium difficile, an anaerobic, spore-forming, gram-positive, rod-shaped bacterium, is the most common nosocomial pathogen causing pseudomembranous colitis. C. difficile is not intrinsically invasive and rarely infects extraintestinal sites. The bacterium, therefore, is not commonly detected in blood cultures. Here, we report a case of C. difficile bacteremia in a patient who had underwent loop ileostomy because of rectal obstruction following metastatic colon cancer originated from prostate cancer.

A Case of Near-triploidy in Myelodysplastic Syndrome with del(5q) Combined with del(1p) and del(13q)

Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies and compared to near-triploidy in lymphoid malignancies, near-triploidy in myeloid malignancies is associated with poor outcomes. Few studies on near-triploidy in myelodysplastic syndrome (MDS) have been reported, and the clinicopathologic significance of this condition is still unclear. Here, we report a novel case of MDS with near-triploidy and multiple structural chromosomal abnormalities: del(5q) combined with del(1p) and del(13q). These abnormalities were detected by cytogenetic analysis with array comparative genomic hybridization (CGH). Our results suggest that array CGH can be a useful tool for detecting chromosomal abnormalities in patients with MDS.

Comparison of Capillary Electrophoresis with Cellulose Acetate Electrophoresis for the Screening of Hemoglobinopathies / 대한진단검사의학회지

BACKGROUND: beta-thalassemia is primarily found in individuals of Mediterranean and Southeast Asian ancestry. With rapid growth in the Southeast Asian segments of the Korean population, the geographic distribution of hemoglobinopathies is expected to become significantly different from what it is today. In this study, Hb fractions were measured in patients with hypochromic microcytosis to detect thalassemia and Hb variants. To evaluate the feasibility of replacing cellulose acetate electrophoresis (CA) with capillary electrophoresis (CE) in a clinical laboratory, both techniques were performed and the outcomes were compared. METHODS: To evaluate hemoglobinopathies, complete blood cell counts (CBC), CA, and CE were carried out on samples from healthy and microcytic hypochromic groups. The microcytic hypochromic group consisted of 103 patients whose mean corpuscular volume (MCV) was less than 75 fL and mean corpuscular hemoglobin (MCH) was less than 24 pg. Quantitative analysis of Hb fractions was performed on 143 whole blood samples. RESULTS: There was a good correlation for measurements of HbA (r=0.9370, P<0.0001), HbA2 (r=0.8973 P<0.0001), and HbF (r= 0.8010, P=0.0304) between the two methods. In the microcytic hypochromic group, there were 29 cases (28.2%) with decreased HbA2, 2 cases (1.9%) with increased HbA2, 3 cases (2.9%) with increased HbF, and 2 cases (1.9%) with increased HbA2 and HbF. CONCLUSIONS: CE is comparable to CA for reliable measurement of Hb fractions. It is suitable for screening of hemoglobinopathies in many clinical laboratories.

Serial Interferon-gamma Release Assays for the Diagnosis of Latent Tuberculosis Infection in Patients Treated with Immunosuppressive Agents / 대한진단검사의학회지

BACKGROUND: We assessed the efficacy of serial interferon-gamma release assays (IGRAs) for the diagnosis of latent tuberculosis infection (LTBI) in patients receiving immunosuppressive agents for treatment of rheumatic diseases in Korea. METHODS: Of 276 patients who underwent consecutive screening with one of two IGRAs [QuantiFERON-TB Gold or QuantiFERON-TB Gold In-Tube], 66 patients were evaluated by the serial IGRA for detection of LTBI during therapy with immunosuppressive agents. Information on clinical diagnosis, medication, previous TB, blood cell count, tuberculin skin test, and interferon-gamma (IFN-gamma) level measured by IGRA was collected. RESULTS: Of the 66 patients, the initial IGRA was positive in 24.2%, negative in 65.2%, and indeterminate in 10.6%. Forty-six patients (69.7%) showed consistent IGRA results during follow-up, and 13 patients (19.7%) had consistently positive results. IGRA conversion rate was 12.1% (8/66) and reversion rate was 4.5% (3/66). Conversion of IGRA results was only observed in ankylosing spondylitis patients, and the median interval between the two tests in patients with conversion was 8.5 months. The mean IFN-gamma level in the group of patients with consistently positive IGRA results was higher than that in the group with inconsistently positive results, although this trend was not statistically significant (P=0.293). Indeterminate results were observed most frequently in patients with systemic lupus erythematosus. CONCLUSIONS: In patients receiving immunosuppressive agents, both IGRA conversions and reversions were observed. Serial IGRA testing may not be needed in patients with a positive initial IGRA result showing high IFN-gamma levels, because of high consistency in the test results.

Comparison of an Automated Repetitive Sequence-based PCR Microbial Typing System with IS6110-Restriction Fragment Length Polymorphism for Epidemiologic Investigation of Clinical Mycobacterium tuberculosis Isolates in Korea / 대한진단검사의학회지

Tuberculosis remains a severe public health problem worldwide. Presently, genotyping is used for conducting epidemiologic and clinical studies on tuberculosis cases. We evaluated the efficacy of the repetitive sequence-based PCR (rep-PCR)-based DiversiLab(TM) system (bioMerieux, France) over the IS6110-restriction fragment length polymorphism analysis for detecting Mycobacterium tuberculosis. In all, 89 clinical M. tuberculosis isolates collected nationwide from Korea were used. The DiversiLab system allocated the 89 isolates to 8 groups with 1 unique isolate when a similarity level of 95% was applied. Seventy-six isolates of the Beijing family and 13 isolates of non-Beijing family strains were irregularly distributed regardless of rep-PCR groups. The DiversiLab system generated a rapid, sensitive, and standardized result. It can be used to conduct molecular epidemiologic studies to identify clinical M. tuberculosis isolates in Korea.