Emergence of new clonal chromosomal abnormality (CCA) has been reported in Philadelphia-negative cells in patients with chronic myeloid leukemia (CML) undergoing the tyrosine kinase inhibitor (TKI) treatment. However, the time of emergence and clinical significance of CCA remains to be elucidated. In this study, we report a CML patient undergoing TKI treatment who developed myelodysplastic syndrome (MDS) after 206 months since the diagnosis of CML. Results of droplet digital PCR performed with serial bone marrow samples revealed that monosomy 7 in Philadelphia-negative cells appeared at the time of MDS development that did not exist initially at the time of CML diagnosis.

Emergence of new clonal chromosomal abnormality (CCA) has been reported in Philadelphia-negative cells in patients with chronic myeloid leukemia (CML) undergoing the tyrosine kinase inhibitor (TKI) treatment. However, the time of emergence and clinical significance of CCA remains to be elucidated. In this study, we report a CML patient undergoing TKI treatment who developed myelodysplastic syndrome (MDS) after 206 months since the diagnosis of CML. Results of droplet digital PCR performed with serial bone marrow samples revealed that monosomy 7 in Philadelphia-negative cells appeared at the time of MDS development that did not exist initially at the time of CML diagnosis.

BACKGROUND: Pleural effusion is a common clinical problem and many clinical and laboratory evaluations, such as tumor marks, have been studied to discriminate malignant pleural fluid from benign pleural fluid. However their usefulness in the diagnosis of pleural effusion is still not established fully. We studied the diagnostic value of cyfra 21-1 in diagnosis of malignant pleural effusion. METHODS: Pleural fluid was obtained from 45 patients with malignant diseases(32 lung cancer patients, 13 metastatic malignant diseases) and 47 patients with benign diseases. The level of cyfra 21-1 in the pleural fluid and serum were determined using a CYFRA 21-1 enzyme immunoassay kit(Cis-Bio International Co.). The t-test was used for comparison between two diseases groups and receiver operating characteristic(ROC) curves were constructed by calculating the sensitivities and specificities of the cyfra 21-1 at several points to determine the diagnostic accuracy of the cyfra 21-1. RESULTS: In patients with primary lung cancer, the level of cyfra 21-1 in the pleural fluid was significantly higher than those of patients with benign diseases and had positive correlations between the level of cyfra 21-1 in the pleural fluid and serum levels. In the ROC curve analysis of the pleural fluid, the curve for primary lung cancer group was located closer to the left upper corner and the cut off value, sensitivity and specificity of the cyfra 21-1 of the primary lung cancer group was determined as 22.25ng/ml, 81.8% and 78.7% respectively. CONCLUSIONS: Our data indicates that the measurement of cyfra 21-1 level in pleural effusion has useful diagnostic value to discriminate malignant pleural effusion in primary lung cancer from benign pleural effusion.
Diagnosis ; Diagnosis, Differential* ; Humans ; Immunoenzyme Techniques ; Lung Neoplasms ; Pleural Effusion* ; Pleural Effusion, Malignant ; ROC Curve

BACKGROUND: Although bone marrow (BM) or mobilized peripheral blood (PB) is frequently used as the source of hematopoietic stem cells, hematopoietic stem cell transplantation (HSCT) using cord blood (CB) is gradually gaining popularity in many countries. However, BM or PB is still preferred over CB in Korea. Therefore, we tried to assess the awareness of CB transplantation (CBT) among domestic HSCT physicians and develop strategies for boosting its utilization by administering questionnaires to some of these physicians. METHODS: A direct questionnaire survey was conducted using the "Audience Response System" among 301 members who attended the annual meeting of the Korean Society of Blood and Marrow Transplantation. The data were analyzed for only 67 board certified physicians who were directly involved in HSCT activities. RESULTS: The poor outcomes resulting from insufficient experience in CBT was designated by the physicians as the main reason for the low domestic implementation of HSCT using CB. Other reasons identified in the survey were distrust in the quality and management of domestic CB and the high cost of obtaining CB. CONCLUSION: Increasing the use of donated CB would foremost require increasing the inventory of donated CB containing a sufficient cell number for CBT and securing structured quality control of the CB banks. In addition, it would be necessary to minimize CB supply costs and continue to provide academic data, including CBT guidelines, so that clinicians could perform CBT with more confidence.
Bone Marrow ; Cell Count ; Fetal Blood* ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Korea ; Quality Control ; Surveys and Questionnaires

Translocations leading to fusions between the immunoglobulin heavy chain gene (IGH) and various partner genes have been reported in B-cell precursor acute lymphoblastic leukemia (B-ALL). However, submicroscopic deletions within IGH in B-ALL have not been rigorously assessed. In this study, we investigated characteristics of IGH submicroscopic deletions, by FISH, in B-ALL with IGH rearrangements. FISH was performed by using commercially available IGH dual-color break-apart rearrangement probes (Abbott/Vysis, Downers Grove, IL, USA; Kreatech, Amsterdam, Netherlands). The study group included seven B-ALL patients with IGH rearrangements, observed by FISH. Among them, two exhibited deletion of the 5' variable region of IGH by FISH. The B-ALL in these two patients included two kinds of abnormal cells; one had an IGH rearrangement without any IGH submicroscopic deletion, while the other had an IGH submicroscopic deletion, which showed that one normal fusion signal and one 3' IGH signal were detected. Thus, submicroscopic deletion of the IGH 5' variable region may have occurred in either the native or rearranged chromosome 14. These findings indicate that B-ALL with IGH rearrangements may be accompanied by submicroscopic deletions of the IGH 5' variable region, which can be detected by FISH. The clinical significance of such deletions is unclear, but the loss of part of the IGH gene in B-ALL warrants further study.
Adult ; Child ; Female ; *Gene Deletion ; *Gene Rearrangement ; Humans ; Immunoglobulin Heavy Chains/*genetics ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Middle Aged ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*genetics/pathology ; Young Adult

A genomic instability called chromothripsis occurs as a single catastrophic event, generating massive complex genomic rearrangement with a possible characteristic pattern of copy number oscillations. Here, we report a case of secondary plasma cell leukaemia (PCL) showing chromothripsis identified by single nucleotide polymorphism array (SNP-A)-based karyotyping. A 53-year-old male patient was diagnosed as having secondary PCL four years after he was diagnosed with multiple myeloma, and he died four days later due to intracerebral haemorrhage. Chromosomal analysis and fluorescence in situ hybridization (FISH) revealed the deletions of 13q and 17p and an insertion of 1q. Further, genomic aberrations that were not detected by chromosomal analysis and FISH were identified by SNP-A. In particular, SNP-A revealed numerous alternating copy number state switches involving one, two, or three copy number states on chromosome 7q, suggesting the presence of chromothripsis. The present case suggests that chromothripsis may occur in secondary PCL and can be inferred from genomic copy number profiles identified by SNP-A.
Fluorescence ; Genomic Instability ; Humans ; In Situ Hybridization ; Karyotyping ; Male ; Middle Aged ; Multiple Myeloma ; Plasma Cells* ; Polymorphism, Single Nucleotide

BACKGROUND: With cases of chronic obstructive pulmonary disease(COPD), weight loss and low body weight have been found to correlate with increased mortality and poor prognosis. Therefore, nutritional aspects are an important part of the treatment in cases of COPD. In Korea, there is only limited data available for the changes of resting pulmonary function in relation to nutritional status. This study was carried out to investigated the differences of resting pulmonary function in relation to the nutritional status of patients with COPD. METHOD: 83 stable patients, with moderate to severe COPD, were clinically assessed for their nutritional status and resting pulmonary function. The patients' nutritional status was evaluated by body weight and fat-free mass (FFM), which was assessed by bioelectrical impedance analysis. According to their nutritional status, the 83 patients were divided into two groups, designated as the depleted, and non-depleted, groups. RESULT: Of the 83 patients, 31% were characterized by body weight loss and depletion of FFM, whereas 28% had either weight loss or depleted FFM. In the depleted group, significantly lower peak expiratory flow rate(p<0.05) and Kco(p<0.01), but significantly higher airway resistance(Raw, p<0.05) were noted. There was no difference for the non-depleted group in forced expiratory volume at one second, residual volume, inspiratory vital capacity, or total lung capacity. Maximal inspiratory pressure(PImax) was also significantly lower in the depleted group(p<0.05). CONCLUSION: We conclude, from our clinical studies, that nutritional depletion is significantly associated with the change in resting pulmonary function for patients with moderate to severe COPD.
Body Weight ; Electric Impedance ; Forced Expiratory Volume ; Humans ; Korea ; Mortality ; Nutritional Status* ; Prognosis ; Pulmonary Disease, Chronic Obstructive* ; Residual Volume ; Total Lung Capacity ; Vital Capacity ; Weight Loss

A variant Philadelphia chromosome (Ph) is generated from translocation of one or more partner chromosomes in addition to chromosomes 9 and 22. We have described the cases of 2 patients bearing variant Ph detected by interphase FISH but not detected by G-banded karyotyping and metaphase FISH. FISH was performed using BCR/ABL dual color dual fusion translocation probes (Abbott Molecular, USA). A 52-year-old man was diagnosed with acute leukemia of mixed phenotype. G-banded karyotyping showed 46,XY,t(9;22)(q34;q11.2)[12]/47,idem,+der(22)t(9;22)[5]/46,XY[3]. Interphase FISH revealed nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[329/450]/(ABL1,BCR)x4(ABL1 con BCRx3)[5/450]/(AL1,BCR)x3(ABL1 con BCRx1)[44/450]. Metaphase FISH showed ish (9;22)(ABL1+,BCR1+;BCR+,ABL+)[22]/der(22)(BCR+,ABL1+)[3]. The other case was that of a 31-yr-old male patient diagnosed with CML in the blastic phase. G-banded karyotyping of all 20 metaphase cells showed 47,XYYc,dup(1)(q21q32),del(7)(p11.2),t(9;22)(q34;q11.2). Interphase FISH revealed nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[254/600]/(ABL1,BCR)x3(ABL1 con BCRx1)[191/600]. Metaphase FISH showed ish t(9;22)(ABL1+,BCR+;BCR+,ABL1+)[16]. These results suggest that typical t(9;22) and variant Ph may coexist in the same patient, and interphase FISH may facilitate the detection of the variant Ph that cannot be detected by G-banded karyotyping alone.
Adult ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Humans ; In Situ Hybridization, Fluorescence/*methods ; Interphase ; Karyotyping ; Leukemia/diagnosis/genetics ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/genetics ; Male ; Metaphase ; Middle Aged ; Phenotype ; *Philadelphia Chromosome ; Translocation, Genetic

BACKGROUND: Dyspnea and a limitation in exercise performance are important cause of disability in patients with chronic obstructive pulmonary disease (COPD). A depleted nutritional state is a common problem in pati ents with a severe degree of chronic airflow limitation. This study was carried out to assess the factors determining the maximum exercise capacity in patients with COPD. METHODS: The resting pulmonary function, nutritional status, and maximum exercise performance was assessed in 83 stable patients with moderate to severe COPD. The nutritional status was evaluated by bioelectrical impedance analysis. Maximum exercise performance was evaluated by maximum oxygen uptake(VO2max). RESULTS: Among the 83 patients, 59% were characterized by nutritional depletion. In the delpleted group, a significantly lower peak expiratory flow rate(p<0.05), Kco(p<0.01) and maximum inspiratory pressure(p<0.05), but a significantly higher airway resistance(p<0.05) was observed. The maximum oxygen uptake and the peak oxygen pulse were lower in the depleted group. The VO2max correlated with some of the measures of the body composition : fat-free mass (FFM), fat mass (FM), body mass index(BMI), intracellular water index (ICW index), and pulmonary function: forced vital capacity(FVC), forced inspiratory vital capacity(FIVC), diffusion capacity(DLCO) : or maximum respiratory pressure: maximum inspiratory pressure(PImax), maximum expiratory pressure(PEmax). Stepwise regression analysis demonstrated that the FFM, DLCO and FIVC accounted for 68.8% of the variation in the VO2max. CONCLUSIONS: The depletion of the FFM is significant factor for predicting the maximum exercise performance in patients with moderated to severe COPD.
Body Composition ; Diffusion ; Dyspnea ; Electric Impedance ; Humans ; Nutritional Status ; Oxygen ; Pulmonary Disease, Chronic Obstructive*

Trisomy 22 is closely associated with inv(16) or t(16;16) and could be a marker of cryptic rearrangement of CBFB/MYH11 in acute myeloid leukemia (AML). Trisomy 22 not associated with CBFB/MYH11 rearrangement is a rare event. Here, we report a case diagnosed as refractory anemia with excess blasts-2 (RAEB-2) with sole trisomy 22 in the absence of CBFB/MYH11 rearrangement. The cytogenetic study of bone marrow cells disclosed trisomy 22 in 10% of metaphase cells analyzed. The other chromosomal abnormalities were not found. Fluorescence in situ hybridization (FISH) using CBFB/MYH11 probe to detect cryptic inv(16)(p13q22) showed negative result. We also excluded rearrangements of chromosome 5, 7, 8, 20, and ETV6 by FISH. Sole trisomy 22 not associated with inv(16) is a true entity.
Anemia, Refractory ; Bone Marrow Cells ; Chromosome Aberrations ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 5 ; Cytogenetics ; Fluorescence ; In Situ Hybridization ; Leukemia, Myeloid, Acute ; Metaphase ; Myelodysplastic Syndromes ; Trisomy