Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis presenting with peripheral cytopenias in combination with a hyperplastic bone marrow and an increased risk of evolution to acute myeloid leukemia (AML). Cytogenetic abnormalities are major determinants in the pathogenesis, diagnosis, and prognosis, and, increasingly, the basis for selection of drugs in individual patients with MDS. Chromosomal abnormalities are detected in 40~70% of patients with de novo MDS and in up to 80-95% of patients with therapy-related MDS. Frequent cytogenetic abnormalities are -5/del (5q), -7/del (7q), +8, del (20q), -Y, del (17p), and del (12p). These chromosome abnormalities are independent prognostic factors predicting overall survival and the likelihood of progression in AML. Continuing studies have been performed and they added and changed the significance of cytogenetic abnormalities. Moreover, molecular cytogenetic method, such as fluorescence in situ hybridization, has enriched the understanding of the biology of MDS and to be complement to the information. The aim of this article is to review the clinical significance of cytogenetic abnormalities in MDS.
Biology ; Bone Marrow ; Chromosome Aberrations ; Complement System Proteins ; Cytogenetics ; Fluorescence ; Hematopoiesis ; Humans ; In Situ Hybridization ; Karyotype ; Leukemia, Myeloid, Acute ; Myelodysplastic Syndromes ; Prognosis

Mucosa-associated lymphoid tissue (MALT) lymphoma is a common low grade B-cell lymphoma arising from a background of chronic inflammatory disease at a number of mucosal sites. The association between Helicobacter pylori and gastric MALT lymphoma is well known and it appears that H. pylori is critical for lymphomagenesis and also creates a microenvironment favoring the growth of neoplastic B cells. The understanding of MALT lymphoma biology has significantly improved, and at least 4 recurrent translocations t(11;18)/API2-MALT1, t(1;14)/IGH-BCL10, t(14;18)/IGH-MALT1 and t(3;14)/IGH-FOXP1 have been implicated in the pathogenesis of MALT lymphoma. Here, we review the recent advances in association of microorganisms with MALT lymphoma and the molecular genetics underlying the lymphoma development.
B-Lymphocytes ; Bacteria ; Biology ; Helicobacter pylori ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell ; Lymphoma, B-Cell, Marginal Zone ; Molecular Biology ; Translocation, Genetic

No abstract available.
Lymphoma* ; Primary Myelofibrosis*

Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs have identified multiple genes associated with IBMFSs and their pathways: genes involved in ribosome biogenesis, such as those associated with Diamond-Blackfan anemia and Shwachman-Diamond syndrome; genes involved in telomere maintenance, such as dyskeratosis congenita genes; genes encoding neutrophil elastase or neutrophil adhesion and mobility associated with severe congenital neutropenia; and genes involved in DNA recombination repair, such as those associated with Fanconi anemia. Early and adequate genetic diagnosis is required for proper management and follow-up in clinical practice. Recent advances using new molecular technologies, including next generation sequencing (NGS), have helped identify new candidate genes associated with the development of bone marrow failure. Targeted NGS using panels of large numbers of genes is rapidly gaining potential for use as a cost-effective diagnostic tool for the identification of mutations in newly diagnosed patients. In this review, we have described recent insights into IBMFS and how they are advancing our understanding of the disease's pathophysiology; we have also discussed the possible implications they will have in clinical practice for Korean patients.
Anemia, Diamond-Blackfan ; Organelle Biogenesis ; Blood Cells ; Bone Marrow* ; Diagnosis ; DNA ; Dyskeratosis Congenita ; Fanconi Anemia ; Follow-Up Studies ; Humans ; Leukocyte Elastase ; Neutropenia ; Neutrophils ; Phenotype ; Recombinational DNA Repair ; Ribosomes ; Telomere

PURPOSE: We explored changes in photoreceptor function and histology in an iodoacetic acid (IAA)-induced model of feline retinal degeneration. METHODS: From January to October 2014, we studied 11 adult felines (22 eyes) over 2 years of age divided into two groups (two in a control and nine in an IAA group). The mean body weights of these two groups were 1.75 ± 0.35 and 1.61 ± 0.19 kg, and the male:female sex ratios 1:1 and 2:7, respectively. Electroretinograms (ERGs) were obtained before injection and at 1–4 week post-injection (20 mg/kg IAA). Standard paraffin retinal sections were stained with hematoxylin/eosin and other sections subjected to immunohistochemistry. We histologically evaluated the outer nuclear layer, and photoreceptor cone and rod cells. RESULTS: In ERGs of the IAA group, both the rod and cone mean b wave amplitudes decreased significantly from week 1 to week 4 after injection (27.43, 29.41, 64.17, and 56.03; and 61.04, 51.25, 131.36, and 136.68 µV, respectively) compared to baseline (322.48 and 610.00 µV respectively) (p < 0.01). Optical microscopy revealed a significant decrease in the cell count of the outer nuclear retinal layer (16.83 ± 0.89 in the control and 11.98 ± 3.55 in the IAA groups, p < 0.01). Fluorescence microscopy revealed a significant reduction in the mean area per unit length of the rod cell layer (35,225.67 ± 2,477.02 and 14,903.62 ± 2,319.65 in the control and IAA groups, p < 0.01), but not in the cone cell count (26.16 ± 1.34 and 23.98 ± 6.16 in the control and IAA groups, p = 0.075). CONCLUSIONS ERGs revealed that functional b wave amplitudes fell after IAA-induce retinal degeneration in felines; histology showed that this was accompanied by reductions in the numbers of outer nuclear layers and rod cells. IAA induces photoreceptor degeneration in felines; further study is necessary.

We report a case that revealed the characteristics of acute myeloblastic leukemia with maturation (AML-M2) on the morphology of the bone marrow biopsy and 45,X,-Y in conventional cytogenetic study, but was confirmed to have a typical AML1/ETO translocation by molecular studies using reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization. Insertion of ETO gene on chromosome 8 into chromosome 21 in this patient resulted in the development of the chimeric gene, AML1/ETO, on the long arm of chromosome 21. Our final report on the patient's karyotype: 45,X,-Y.ish ins(21;8)(q22;q22q22)(AML1 +,ETO +;ETO +,AML1-). In case typical morphologic features compatible with recurrent cytogenetic abnormalities are shown, molecular studies in addition to conventional cytogenetic study might be required to confirm the diagnosis.
Arm ; Biopsy ; Bone Marrow ; Chromosome Aberrations ; Chromosomes, Human, Pair 21 ; Chromosomes, Human, Pair 8 ; Cytogenetics ; Diagnosis ; Fluorescence ; Humans ; In Situ Hybridization ; Karyotype ; Leukemia, Myeloid, Acute* ; Masks* ; Reverse Transcriptase Polymerase Chain Reaction

No abstract available.
Adult ; Anemia/diagnosis ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Bone Marrow Cells/cytology/pathology ; Elliptocytosis, Hereditary/*diagnosis/*genetics/pathology ; Female ; Heterozygote ; Humans ; Infant, Newborn ; Mutation, Missense ; Republic of Korea ; Spectrin/chemistry/*genetics ; Splenomegaly/ultrasonography

BACKGROUND: In acute lymphoblastic leukemia (ALL), the importance of argyrophilic nucleolar organizer regions (AgNOR) is not established. METHODS: NOR silver staining was carried out in 74 ALL patients. We analyzed the AgNOR parameters ; counting parameters including number of AgNOR per cell, percentage of cells with one cluster, and area parameters including mean AgNOR area, total AgNOR area, and its percentage of nuclear area by morphometry. Cyclin A index was evaluated by immunohistochemical stain. We compared the AgNOR parameters with cyclin A index and evaluated the differences of AgNOR parameters in accordance with FAB classification, immunophenotype, a new classification of ALL (ALL with maturation), and response to induction chemotherapy. RESULTS: A positive correlation was found between cyclin A index and AgNOR area parameters and a significant negative correlation was found between mean AgNOR area and number of AgNOR per cell (r=-0.433, P=0.000). AgNOR area parameters revealed the highest value in L3. The number of AgNOR per cell in T cell ALL was higher than non-T cell ALL (P=0.011), and the percentage of cells with one cluster was lower (P=0.002). The number of AgNOR per cell in ALLm was lower (P=0.004) and the percentage of cells with one cluster was higher than in typical ALL (P=0.002). In cases achieved complete remission (CR) after induction chemotherapy, the number of AgNOR per cell was higher (P=0.005) and the percentage of cells with one cluster was much lower than in cases failed to achieve CR (P=0.013). CONCLUSIONS: Our study indicates that the AgNOR area parameters are helpful to predict the proliferating activity of leukemic blasts in ALL. It is suggested that the number of AgNOR per cell and the percentage of cells with one cluster provide a valuable information to estimate the response to chemotherapy in ALL.
Classification ; Cyclin A ; Drug Therapy ; Humans ; Induction Chemotherapy ; Nucleolus Organizer Region* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Silver Staining

With increased infection by methicillin-resistant staphylococci, the use of glycopeptides has been increasing. Recently, staphylococci with decreased susceptibility to glycopeptides, especially teicoplanin, are increasingly reported. We isolated a Staphylococcus aureus strain isolated repeatedly from a wound culture, which showed susceptibility to teicoplanin by the disk diffusion method but showed growth on the Mueller-Hinton agar containing 6 g/mL of teicoplanin. This strain was clinically resistant to treatment at 200 mg/day of teicoplanin. By changing the treatment into combining rifampin (600 mg/day) and increasing the dose of teicoplanin (400 mg/day), the S. aureus was not isolated any more.
Agar ; Diffusion ; Glycopeptides ; Methicillin Resistance ; Rifampin ; Staphylococcus aureus* ; Staphylococcus* ; Teicoplanin* ; Wound Infection* ; Wounds and Injuries*