The t(8;21)(q22;q22) is one of the most frequent structural chromosomal anomaly found in AML, occurring in about 5% of all AML and in 10% of AML with maturation (M2). And approximately 3.4% of AML with t(8;21)(q22;q22) occurs as a complex chromosomal abnormality and occasionally shows discrepancy between cytogenetic and molecular genetic analyses. We report a case of 42 yr old male patient that revealed morphological characteristics of AML-M2 and karyotypic abnormality of 45,X,-Y,t(8;17)(q22;p13) without visible involvement of chromosome 21 by conventional cytogenetic study with masked t(8;21) identified by FISH using RUNX1/RUNX1T1 probes. FISH confirmed nuc ish (RUNX1T1x3),(RUNX1x3), (RUNX1T1 con RUNX1x1). According to the results of conventional cytogenetic and FISH analyses, the karyotype was revised to 45,X,-Y,t(8;17;21)(q22;p13;q22).
Chromosome Aberrations ; Chromosomes, Human, Pair 21 ; Cytogenetics ; Humans ; Karyotype ; Leukemia, Myeloid, Acute ; Male ; Masks ; Molecular Biology

Structural abnormalities of the long arm of chromosome 3 (3q) have been associated with elevated platelet count and hyperplasia of megakaryocytes with dysplasia in various hematological malignancies. Some cases of chronic myeloid leukemia (CML) may acquire inv(3) (q21q26) or t(3;3)(q21;q26), and such a finding usually indicates accelerated or blast phase of their disease. We report a case of concomitant inv(3) (q21q26) and cryptic BCR/ABL1 rearrangement in the blast crisis of CML. The patient was 17-year-old male and showed marked leukocytosis and thrombocytosis at admission. Leukocyte differentials showed eosinophilia, basophilia and increased blasts. The bone marrow was hypercellular with granulocytic hyperplasia, and dysmorphic megakaryocytes were frequently observed. Conventional cytogenetic analysis revealed only an inv(3)(q21q26) and no Philadelphia chromosome was observed. FISH and RT-PCR analyses confirmed cryptic BCR/ABL1 rearrangement. The patient responded poorly with imatinib and induction chemotherapy, and expired during the course of 2nd chemotherapy with increased dose of imatinib.
Adolescent ; Arm ; Benzamides ; Blast Crisis ; Bone Marrow ; Chromosomes, Human, Pair 3 ; Cytogenetic Analysis ; Eosinophilia ; Hematologic Neoplasms ; Humans ; Hyperplasia ; Induction Chemotherapy ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukocytes ; Leukocytosis ; Male ; Megakaryocytes ; Philadelphia Chromosome ; Piperazines ; Platelet Count ; Pyrimidines ; Thrombocytosis ; Imatinib Mesylate

A malignant plasma cell clone usually produces a single abnormal monoclonal protein with a constant isotype. However, switching of paraprotein isotype has been reported to be a transient phenomenon associated with the recovery of B-cell function, and, in some cases, the switching might be misinterpreted as relapse. In August 2008, we encountered a case of a 59-year-old man with proteinuria and high IgG level (5.6 g/dL), kappa free light chain level of 2,660 mg/L, reversed A/G ratio (0.51), and multiple osteolytic lesions. Plasma cells, which accounted for 57% of all the nucleated cells, in bone marrow aspirates were positive for kappa immunostaining. Serum protein electrophoresis showed one M-spike, concentration of 4.87 g/dL in the beta region. Immunofixation electrophoresis revealed the peak as an IgG-kappa monoclonal protein; therefore, a diagnosis of plasma cell myeloma was made. Complete remission was achieved after chemotherapy, and autologous peripheral stem cell collection was performed. In March 2009, the patient underwent high-dose chemotherapy and autologous peripheral stem cell transplantation support. After 2 months, serum protein electrophoresis showed 2 M-spikes in the gamma region with positive IgM-lambda, IgG-lambda, and IgG-kappa, and these bands persisted. The electrophoretic mobility of the IgG-kappa protein was different from that of the original disease protein, and bone marrow results were the same as the previous ones. Although immunoglobulin isotype switch is known to have a benign course, it always requires careful monitoring because, in rare cases, true clonal switching may occur.
B-Lymphocytes ; Bone Marrow ; Clone Cells ; Electrophoresis ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Immunoglobulin Class Switching ; Immunoglobulin G ; Immunoglobulins ; Light ; Middle Aged ; Multiple Myeloma ; Peripheral Blood Stem Cell Transplantation ; Plasma ; Plasma Cells ; Proteinuria ; Recurrence ; Stem Cells

BACKGROUND: Anti-streptolysin O (ASO) test is usually used to diagnose group A streptococcal infection-related diseases, such as rheumatic fever, reactive arthritis, and various infectious diseases. Despite the recent declining incidence of these diseases, ASO test is still frequently performed as a screening test to diagnose rheumatic diseases. This study re-evaluated the clinical usefulness of ASO test in systemic rheumatic diseases (SRD). METHODS: ASO tests was performed in 825 patients between April and October in 2010. ASO levels were compared between SRD and non-SRD groups of patients. The results of ASO, C-reactive protein (CRP), and rheumatoid factor (RF) were compared among 6 subgroups of SRD: rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, Behcet disease, Sjogren's syndrome and others. RESULTS: Positive results in ASO test (>200 IU/mL) were observed in 15.3% (126/825) of the patients tested. None of the ASO positive patients was, however, diagnosed with rheumatic fever or reactive arthritis. There were no statistically significant differences in the mean value (P=0.688) or positive rate (P=0.835) of ASO test between SRD and non-SRD groups. Positive rates of ASO test were also not statistically significant different among six subgroups of SRD patients (all P>0.05), whereas those of CRP and RF tests were significantly different. CONCLUSIONS: The usefulness of ASO test is very low for diagnosing SRD, although it is frequently carried out as a screening test. We suggest that ASO test must be performed selectively when diseases from group A streptococcal infection are suspected.
Arthritis, Reactive ; Arthritis, Rheumatoid ; Behcet Syndrome ; C-Reactive Protein ; Communicable Diseases ; Humans ; Incidence ; Lupus Erythematosus, Systemic ; Mass Screening ; Rheumatic Diseases ; Rheumatic Fever ; Rheumatoid Factor ; Sjogren's Syndrome ; Spondylitis, Ankylosing ; Streptococcal Infections

BACKGROUND: Iron deficiency anemia (IDA) is the most common anemia followed by anemia of chronic disease (ACD). Reticulocyte indices have been shown to be helpful indicators for detecting IDA. We investigated whether RBC and reticulocyte indices can be used to differentiate ACD from IDA. METHODS: A total of 85 women showing microcytic hypochromic anemia (38 IDA and 47 ACD cases) were enrolled. IDA was defined as those with ferritin level of <6 microg/dL and total iron binding capacity (TIBC) of >450 microg/dL. ACD was defined as ferritin level of > or =6 microg/dL, TIBC of < or =450 microg/dL, and presence of underlying diseases. We measured complete blood count, TIBC, iron, ferritin, and RBC and reticulocyte indices. The mean values of each item were compared between the two groups and sensitivity and specificity of each item in the differential diagnosis of ACD from IDA were determined by ROC curve analysis. RESULTS: In ACD, most of the RBC and reticulocyte indices were significantly higher than in IDA: mean cell volume (MCV), mean cell hemoglobin (MCH), mean cell hemoglobin concentration (MCHC), cellular hemoglobin concentration mean (CHCM), cellular hemoglobin content (CH), red cell distribution width (RDW), reticulocyte hemoglobin content (CHr), and mature RBC cellular hemoglobin content (CHm). All these indices, except MCV showed significant correlations with ferritin and/or TIBC. CHr level of > or =24.6 pg could be used to differentiate ACD from IDA with 85.1% sensitivity and 81.6% specificity. CONCLUSIONS: The reticulocyte indices, especially CHr, are useful for the differential diagnosis of microcytic hypochromic anemias, ACD and IDA.
Adult ; Anemia ; Anemia, Hypochromic ; Anemia, Iron-Deficiency ; Blood Cell Count ; Chronic Disease ; Diagnosis, Differential ; Erythrocyte Indices ; Female ; Ferritins ; Hemoglobins ; Humans ; Iron ; Reticulocytes ; ROC Curve ; Sensitivity and Specificity

BACKGROUND: Accumulation of genetic aberrations in MDS is closely associated with progression to AML. FLT3-ITD is commonly found in AML and less frequently in MDS. FLT3-ITD in MDS is associated with a high risk of transformation to AML. Recently, significant interaction of NPM1 and FLT3-ITD was described in AML. This study was conducted to investigate the incidence and prognostic role of FLT3-ITD and NPM1 mutations (NPM1mt) on paired samples at diagnosis of MDS and AML. METHODS: Patients who were diagnosed as MDS transforming to AML were included. FLT3-ITD was detected by PCR, and NPM1mt was confirmed by direct sequencing after screening for NPM by immunohistochemistry. RESULTS: AML developed in 12.0% (43/357) of MDS patients. FLT3-ITD was detected in none of MDS and 14.7% (5/34) of AML. NPM1mt was detected in 2.4% (1/41) of MDS and 11.6% (5/43) of AML. One patient with type B NPM1mt at MDS transformed to type A NPM1mt at AML. FLT3-ITD positive AML showed a tendency of shorter survival and a significantly longer time to achieve complete remission than FLT3-ITD negative AML (P=0.007). Normal karyotype AML with FLT3-ITD showed shorter overall survival than that group of AML without FLT3-ITD (P=0.017). CONCLUSIONS: MDS patients acquired FLT3-ITD during AML transformation, and FLT3-ITD positive AML, especially that with normal karyotype, predicted a poor outcome. NPM1mt was identified in both MDS and AML. NPM1mt was rarely found in MDS patients, and mostly was acquired after AML transformation. Clonal evolution of NPM1mt subtype was found in one patient during acute transformation.
Clonal Evolution ; Humans ; Incidence ; Karyotype ; Mass Screening ; Polymerase Chain Reaction

BACKGROUND: Previous studies have shown that thyroglobulin (Tg) measurement in fine-needle aspirates (FNA) of lymph nodes can assist in evaluating cervical lymph node metastasis. In this study, we evaluated the diagnostic performances of FNA-Tg, serum-Tg, and FNA-Tg/serum-Tg in detecting lymph node metastasis. METHODS: We retrospectively analyzed the diagnostic performances of FNA-Tg and serum-Tg in 641 cases (518 patients) with papillary thyroid cancer that underwent ultrasonography-guided fine-needle aspiration of cervical lymph nodes between March 2009 and February 2010. RESULTS: The number of lymph nodes and median FNA-Tg level of the positive lymph node cytology group were 99 and 1,300 ng/mL (range, 0.2-5,000), respectively, whereas corresponding values in the negative cytology group were 359 and 4.7 ng/mL (range, 0.1-1,173). The AUCs of FNA-Tg, serum-Tg, and FNA-Tg/serum-Tg ratio were 0.93 (95% CI, 0.90-0.97), 0.64 (95% CI, 0.57-0.70), and 0.83 (95% CI, 0.78-0.88), respectively. The sensitivity and specificity of FNA-Tg were 90.9% and 98.3%, respectively, and the percentage agreement with the cytology results was 96.7%. CONCLUSIONS: The agreement of FNA-Tg with the cytology results was good at the cutoff value of 35.9 ng/mL. The measurement of FNA-Tg in cases with uninterpretable cytology results can be useful in evaluating lymph node metastasis of papillary thyroid cancer.
Area Under Curve ; Biopsy, Fine-Needle ; Lymph Nodes ; Neoplasm Metastasis ; Retrospective Studies ; Sensitivity and Specificity ; Thyroglobulin ; Thyroid Gland ; Thyroid Neoplasms

BACKGROUND: Our objective was to evaluate the accuracy of cardiovascular disease (CVD) risk score classification by direct LDL cholesterol (dLDL-C), calculated LDL cholesterol (cLDL-C), and non-HDL cholesterol (non-HDL-C) compared to classification by reference measurement procedures (RMPs) performed at the CDC. METHODS: Weexamined 175 individuals, including 138 with CVD or conditions that may affect LDL-C measurement. dLDL-C measurements were performed using Denka, Kyowa, Sekisui, Serotec, Sysmex, UMA, and Wako reagents. cLDL-C was calculated by the Friedewald equation, using each manufacturer's direct HDL-C assay measurements, and total cholesterol and triglyceride measurements by Roche and Siemens (Advia) assays, respectively. RESULTS: For participants with triglycerides <2.26 mmol/L (<200 mg/dL), the overall misclassification rate for the CVD risk score ranged from 5% to 17% for cLDL-C methods and 8% to 26% for dLDL-C methods when compared to the RMP. Only Wako dLDL-C had fewer misclassifications than its corresponding cLDL-C method (8% vs 17%; P<0.05). Non-HDL-C assays misclassified fewer patients than dLDL-C for 4 of 8 methods (P<0.05). For participants with triglycerides > or =2.26 mmol/L (> or =200 mg/dL) and <4.52 mmol/L (<400 mg/dL), dLDL-C methods, in general, performed better than cLDL-C methods, and non-HDL-C methods showed better correspondence to the RMP for CVD risk score than either dLDL-C or cLDL-C methods. CONCLUSIONS: Except for hypertriglyceridemic individuals, 7 of 8 dLDL-C methods failed to show improved CVD risk score classification over the corresponding cLDL-C methods. Non-HDL-C showed overall the best concordance with the RMP for CVD risk score classification of both normal and hypertriglyceridemic individuals.
Cardiovascular Diseases ; Cholesterol ; Cholesterol, LDL ; Humans ; Indicators and Reagents ; Triglycerides

BACKGROUND: Hyperleukocytosis is a medical emergency that is characterized by increased blood viscosity and predisposition to various neurological, pulmonary, and gastrointestinal complications. In addition, patients are at risk of the tumor lysis syndrome because of the increased tumor burden. Therapeutic leukapheresis is an important treatment for these emergent states. In this study, we retrospectively analyzed therapeutic leukapheresis procedures that were performed in our institution during the last 10 yr. METHODS: We retrospectively analyzed therapeutic leukapheresis procedures conducted from July 2005 to March 2015 at a tertiary care hospital. We present our observations, especially the procedural characteristics and hematological parameters before and after the aforementioned procedures. RESULTS: Seventy-two patients underwent a total of 146 therapeutic leukapheresis procedures. The average presenting white blood cell (WBC) count was 268×10(3)/µL, and ranged from 54×10(3)/µL to 673×10(3)/µL. After an average of two sessions, a statistically significant drop in the WBC counts was observed. The average WBC removal rates during the initial and entire therapeutic leukapheresis procedures of each patient were 33% and 46%, respectively. The platelet count and hemoglobin concentration were significantly reduced. CONCLUSIONS: Therapeutic leukapheresis significantly reduces peripheral WBC counts and is a safe and effective procedure for the treatment of hyperleukocytosis.
Blood Viscosity ; Emergencies ; Humans ; Leukapheresis* ; Leukemia ; Leukocytes ; Platelet Count ; Retrospective Studies ; Tertiary Healthcare* ; Tumor Burden ; Tumor Lysis Syndrome

BACKGROUND: Hemoglobin A1c (HbA1c) is a good marker for monitoring glycemic control. The Samsung LABGEO PT10 HbA1c test (Samsung Electronics, Korea) was developed as a point-of-care testing approach. This study evaluated the levels of HbA1c in three different types of blood specimens using two different methods. METHODS: We used correlation analyses to compare the results obtained using Samsung LABGEO PT10 and Bio-Rad Variant II Turbo (Bio-Rad Laboratories, USA) to determine the levels of HbA1c in three different types of blood samples: capillary blood, EDTA whole blood, and lithium (Li)-heparin whole blood. RESULTS: The correlation coefficient for the level of HbA1c in capillary blood based on LABGEO PT10 vs. that in EDTA whole blood based on the Variant II Turbo was r=0.9619; that in capillary blood based on LABGEO PT10 vs. that in Li-heparin whole blood based on the Variant II Turbo was r=0.9619; that in capillary blood vs. that in EDTA whole blood based on the LABGEO PT10 was r=0.9697; that in capillary blood vs. that in Li-heparin whole blood based on the LABGEO PT10 was r=0.9724; and that in EDTA whole blood vs. that in Li-heparin whole blood based on the LABGEO PT10 was r=0.9730. CONCLUSIONS: The LABGEO PT10 was suitable for analyzing HbA1c. The results for the measurement of HbA1c levels in capillary blood were comparable to that in the whole blood samples. Additionally, LABGEO PT10 can be used for patients who are unable to take venipuncture.
Capillaries ; Edetic Acid ; Humans ; Lithium ; Phlebotomy ; Point-of-Care Systems ; Point-of-Care Testing