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

Chromosomes forming a corresponding ring cannot be clearly defined by conventional cytogenetics or FISH. Karyotypic analyses using whole-genome single nucleotide polymorphism arrays (SNP-A) may result in the identification of previously cryptic lesions and allow for more precise definition of breakpoints. We describe a case of AML with metaphase cells bearing -5, del(11)(q22), and +r. With SNP-A, a 5p-terminal deletion (11 megabases [Mb]), a 5q-terminal deletion (27 Mb), an 11q-interstitial deletion (29 Mb), and a 21q gain (3 Mb) were identified. Therefore, the G-banded karyotype was revised as 46, XY, r(5)(p15. 2q33.2), del(11)(q14.1q23.2), dup(21)(q22.13q22.2)[18]/46,XY[2]. SNP-A could be a powerful tool for characterizing ring chromosomes in which the involved chromosomes or bands cannot be precisely identified by conventional cytogenetics or FISH.
Chromosome Deletion ; *Chromosomes, Human, Pair 5 ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Myeloid, Acute/*diagnosis/genetics ; Male ; Metaphase ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; *Polymorphism, Single Nucleotide ; *Ring Chromosomes

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

We reported on a 60-year-old man presenting lymphedema of both lower extremities and scrotum for 3 years with unknown cause. We took a computed tomography scan of the lower extremities as a follow-up. There were diffuse subcutaneous edema in both lower extremities and multiple enlarged lymph nodes along the para-aortic and bilateral inguinal areas. For further evaluation, biopsy of an enlarged inguinal lymph node was taken, yielding a diagnosis of primary amyloidosis. A treatment of chemotherapy for amyloidosis was recommended for him. To our knowledge, this is the first report of lymphedema presenting with primary amyloidosis in Asia. This case suggests that primary amyloidosis could be one of the differential diagnoses in patients with lymphedema in the lower extremities.
Amyloidosis* ; Asia ; Biopsy ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Edema ; Follow-Up Studies ; Humans ; Lower Extremity ; Lymph Nodes ; Lymphedema* ; Middle Aged ; Scrotum

Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease (EBV+ T-cell LPD) is characterized by a clonal proliferation of T-cells, which may trigger hemophagocytic lymphohistiocytosis (HLH). Chromosomal abnormalities in patients with HLH are usually found in association with underlying malignancies. We report here a case of systemic EBV+ T-cell LPD of childhood initially presenting with HLH. A 19-year-old man was admitted to the hospital with a 2-week history of fever. Laboratory data revealed pancytopenia, hypertriglyceridemia, high ferritin levels, and abnormalities in liver function tests. EBV infection was confirmed by serologic tests and real-time polymerase chain reaction. Examination of the bone marrow showed histiocytic hyperplasia and hemophagocytosis. Further investigation revealed atypical lymphoid cells expressing EBV-encoded RNA, CD3, CD4, and CD8. A chromosomal analysis displayed a complex karyotype. Despite intensive treatment, the patient died 15 days after initial presentation. In conclusion, systemic EBV+ T-cell LPD of childhood presenting with HLH and chromosomal abnormalities may progress rapidly and be fatal. Therefore, a diagnostic workup for chromosomal aberration is essential.
Bone Marrow ; Chromosome Aberrations* ; Epstein-Barr Virus Infections ; Ferritins ; Fever ; Herpesvirus 4, Human ; Humans ; Hyperplasia ; Hypertriglyceridemia ; Karyotype ; Liver Function Tests ; Lymphocytes ; Lymphohistiocytosis, Hemophagocytic* ; Pancytopenia ; Real-Time Polymerase Chain Reaction ; RNA ; Serologic Tests ; T-Lymphocytes* ; Young Adult

BACKGROUND: Smoking is the most important and consistent determinant of the development and progression of COPD(Ed Note : Define COPD). The fact that cigarette smokers develop a different type of COPD, chronic bronchitis and emphysema, with different clinical and pathological aspects, suggests that the development of COPD has a relationship with other smoking-associated factors beyoud just a simple smoking history. The aim of this was to analyze the smoking habits and history of patients with COPD and to evaluate the development of different types of COPD accordint to patient's smoking habits. METHOD: To evaluate the differences in the smoking patterens of patients with chronic bronchitis and emphysema, a pulmonary function test was conducted, and the smoking history and patterns was obtained through a smoking history questionnaire by a direct personal interview from 333 male cigarette smokers diagnosed with COPD, in the Yeungnam university medical center(190 patients diagnosed with chronic bronchitis, 143 patients diagnosed with emphysema). RESULT: The patients with emphysema smoked earlier and had a higher smoking history(ie, more pachyears, more total amounts of smoked cigarette, and more deep inhalation and longer duration of plain cigarette exposure) than those with chronic bronchitis. The depth of ingalation was also significantly higher in the emphysema patients after taking into account age, cumulative cagarette consumption and the type of cigarette smoked. CONCLUSION: Emphysema was more associated with the increasing degree of inhalation as assessed by the depth of inhalation. A high alveolar smoke exposure may be a significant risk factor for the development of emphysema.
Bronchitis, Chronic* ; Emphysema* ; Humans ; Inhalation ; Male ; Pulmonary Disease, Chronic Obstructive ; Respiratory Function Tests ; Risk Factors ; Smoke* ; Smoking* ; Tobacco Products

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