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Three-way Translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a Pediatric Case of Acute Myeloid Leukemia.

Kyung Ran JUN ; Jeong Nyeo LEE ; Jeong A PARK ; Hye Ran KIM ; Jeong Hwan SHIN ; Seung Hwan OH ; Ja Young LEE ; Sae Am SONG

The Korean Journal of Laboratory Medicine.2011;31(2):127-129. doi:10.3343/kjlm.2011.31.2.127

The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partners. We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever. A diagnosis of AML was made on the basis of the morphological evaluation and immunophenotyping of bone marrow specimens. Flow cytometric immunophenotyping showed blasts positive for myeloid lineage markers and aberrant CD19 expression. Karyotypic analysis showed 46,XX,t(1;9;11)(p34.2;p22;q23) in 19 of the 20 cells analyzed. This abnormality was involved in MLL/MLLT3 rearrangement, which was confirmed by qualitative multiplex reverse transcription-PCR and interphase FISH. She achieved morphological and cytogenetic remission after 1 month of chemotherapy and remained event-free for 6 months. Four cases of t(1;9;11)(v;p22;q23) have been reported previously in a series that included cases with other 11q23 abnormalities, making it difficult to determine the distinctive clinical features associated with this abnormality. To our knowledge, this is the first description of t(1;9;11) with clinical and laboratory data, including the data for the involved genes, MLL/MLLT3.
Antigens, CD19/metabolism ; Bone Marrow Cells/pathology ; Child, Preschool ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 9 ; Female ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Myeloid, Acute/*diagnosis/genetics/immunology ; Myeloid-Lymphoid Leukemia Protein/*genetics ; Nuclear Proteins/*genetics ; *Translocation, Genetic

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A Case of Brain Abscess Caused by Propionibacterium acnes 13 Months after Neurosurgery and Confirmed by 16S rRNA Gene Sequencing.

Soie CHUNG ; Jun Sik KIM ; Sang Won SEO ; Eun Kyung RA ; Sei Ick JOO ; So Yeon KIM ; Sung Sup PARK ; Eui Chong KIM

The Korean Journal of Laboratory Medicine.2011;31(2):122-126. doi:10.3343/kjlm.2011.31.2.122

Propionibacterium acnes is a gram-positive anaerobic bacillus and a normal inhabitant of the skin. Although it is often considered a contaminant of blood cultures, it can occasionally cause serious infections, including postoperative central nervous system infections. Here, we report the case of a 70-yr-old man who developed a large cerebral abscess caused by P. acnes 13 months after neurosurgery. Immediate gram staining of the pus from his brain revealed the presence of gram-positive coccobacilli. However, colony growth was observed only after 5 days of culture. Therefore, we performed 16S rRNA gene sequencing of the pus specimen. The isolate was identified as P. acnes. The colonies developed 9 days after the initial culture. The API Rapid ID 32A test (bioMerieux, France) was performed using a colony, but an unacceptable profile was obtained. Then, the pus was transferred into the enrichment broths of the BACTEC FX (Becton Dickinson, USA) and BacT/Alert 3D (bioMerieux, Organon Teknika, USA) systems, but only the BACTEC FX system could detect growth after 5 days. We performed 16S rRNA gene sequencing and API Rapid 32A profiling with a colony recovered from Brucella agar, which was inoculated with the microbial growth in the enrichment broth from the BACTEC FX system. The organism was identified as P. acnes by both methods. This case suggests that 16S rRNA gene sequencing may be a useful alternative for identifying slowly growing P. acnes from specimens that do not show growth after 5 days of culture.
Aged ; Brain Abscess/*diagnosis/microbiology ; Gram-Positive Bacterial Infections/*diagnosis/microbiology ; Humans ; Magnetic Resonance Imaging ; Male ; Neurosurgical Procedures ; Propionibacterium acnes/genetics/*isolation & purification ; RNA, Ribosomal, 16S/chemistry/*genetics ; Sequence Analysis, DNA ; Surgical Wound Infection/*diagnosis/microbiology

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A Case of Bacteremia by Neisseria gonorrhoeae Coincident with Massive Hemorrhage of Esophageal Varices.

Dahae WON ; Dongheui AN ; Mi Na KIM ; Young Sang LEE

The Korean Journal of Laboratory Medicine.2011;31(2):118-121. doi:10.3343/kjlm.2011.31.2.118

A 42-yr-old man with hepatitis B virus associated liver cirrhosis was admitted to the emergency room because of multiple seizures, a history of chills and myalgia over the previous 2 weeks, and 3 days of melena. He was febrile with a temperature of 38.0degrees C. There were no symptoms and signs related to the genitourinary system, skin, or joints. Three sets of blood cultures were obtained and oxidase-positive, gram-negative diplococci were detected after 25.9-26.9 hr of incubation in all aerobic vials. The organism was positive for catalase and oxidase, and was identified as Neisseria gonorrhoeae, using a Vitek Neisseria-Haemophilus Identification card (bioMerieux Vitek, Inc., USA). Further, 16S rRNA sequencing of this isolate revealed a 99.9% homology with the published sequence of N. gonorrhoeae strain NCTC 83785 (GenBank Accession No. NR_026079.1). Acute bleeding by variceal rupture seems to be a likely route of introduction of N. gonorrhoeae from the mucosa into the blood. To the best of our knowledge, this is the first case of gonococcal bacteremia in Korea.
Adult ; Bacteremia/complications/*diagnosis/microbiology ; Catalase/metabolism ; Esophageal and Gastric Varices/complications/*diagnosis ; Gastrointestinal Hemorrhage/*etiology ; Gonorrhea/complications/*diagnosis/microbiology ; Humans ; Ligation ; Liver Cirrhosis/diagnosis ; Male ; Neisseria gonorrhoeae/genetics/*isolation & purification ; Oxidoreductases/metabolism ; RNA, Ribosomal, 16S/chemistry/genetics ; Sequence Analysis, DNA

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Streptococcus suis Causes Septic Arthritis and Bacteremia: Phenotypic Characterization and Molecular Confirmation.

Hanah KIM ; Sang Hoon LEE ; Hee Won MOON ; Ji Young KIM ; Sun Hwa LEE ; Mina HUR ; Yeo Min YUN

The Korean Journal of Laboratory Medicine.2011;31(2):115-117. doi:10.3343/kjlm.2011.31.2.115

Streptococcus suis is a swine pathogen that causes meningitis, septicemia, pneumonia, and endocarditis. The first case of human S. suis infection was reported in Denmark in 1968, and since then, this infection with has been reported in many countries, especially in Southeast Asia because of the high density of pigs in this region. We report the case of a patient with septic arthritis and bacteremia caused by S. suis. Cases in which S. suis is isolated from the joint fluid are very rare, and to the best of our knowledge, this is first case report of S. suis infection in Korea. The identity of this organism was confirmed by phenotypic characterization and 16S rRNA sequence analysis. An 81-yr-old Korean woman who presented with fever, arthralgia, and headache was admitted to a secondary referral center in Korea. Culture of aspirated joint fluid and blood samples showed the growth of S. suis biotype II, which was identified by the Vitek2 GPI and API 20 Strep systems (bioMerieux, USA), and this organism was susceptible to penicillin G and vancomycin. The 16S rRNA sequences of the blood culture isolates showed 99% homology with those of S. suis subsp. suis, which are reported in GenBank. The patient's fever subsided, and blood and joint cultures were negative for bacterial growth after antibiotic therapy; however, the swelling and pain in her left knee joint persisted. She plans to undergo total knee replacement.
Aged, 80 and over ; Anti-Bacterial Agents/administration & dosage ; Arthritis, Infectious/complications/*diagnosis/microbiology ; Bacteremia/complications/*diagnosis/microbiology ; Female ; Humans ; Injections, Intravenous ; Microbial Sensitivity Tests ; Phenotype ; RNA, Ribosomal, 16S/chemistry/genetics ; Sequence Analysis, DNA ; Streptococcal Infections/complications/*diagnosis/microbiology ; Streptococcus suis/genetics/*isolation & purification

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Microorganisms Isolated from Blood Cultures and Their Antimicrobial Susceptibility Patterns At a University Hospital During 1994-2003.

Eun Mi KOH ; Sang Guk LEE ; Chang Ki KIM ; Myungsook KIM ; Dongeun YONG ; Kyungwon LEE ; June Myung KIM ; Dong Soo KIM ; Yunsop CHONG

The Korean Journal of Laboratory Medicine.2007;27(4):265-275. doi:10.3343/kjlm.2007.27.4.265

BACKGROUND: Blood culture is important for the determination of the etiologic agent of bacteremia. Analysis of blood culture results and antimicrobial susceptibility trend can provide clinicians with relevant information for the empirical treatment of patients. METHODS: The species and antimicrobial susceptibility of the isolates from blood cultures at the Severance Hospital during 1994-2003 were analysed. Blood specimens were cultured for 7 days using tryptic soy broth and thioglycollate medium. Identification of organism was based on conventional methods or commercial kit systems. Antimicrobial susceptibility was tested by a disk diffusion method. RESULTS: Of 536,916 blood specimens cultured, 24,877 (4.6%) from 13,102 patients were positive. Among the isolates, 93.1% were aerobic or facultative anaerobic bacteria, 3.3% anaerobes, and 3.6% fungi. Escherichia coli was isolated most frequently, followed by Staphylococcus aureus, -hemolytic Streptococcus, Enterococcus spp., and Klebsiella pneumoniae. The proportion of patients with Enterococcus faecium and K. pneumoniae gradually increased during this study. Enterococcus, S. aureus and alpha-hemolytic Streptococcus were frequently isolated from the age group of less than 2 yr. E. coli, Enterococcus spp., K. pneumoniae and S. aureus from the age group of over 50 yr. Oxacillin-resistant S. aureus decreased, whereas vancomycin-resistant E. faecium and imipenemresistant Pseudomonas aeruginosa and Acinetobacter baumannii increased. CONCLUSIONS: E. coli was the most common cause of bacteremia and S. aureus, -hemolytic Streptococcus, and K. pneumoniae were frequently isolated pathogens. The bacteremia due to Enterococcus, K. pneumoniae, fungi, vancomycin-resistant E. faecium, and imipenem-resistant P. aeruginosa and A. baumannii gradually increased during this period.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Anti-Bacterial Agents/therapeutic use ; Bacteremia/epidemiology/*microbiology ; Bacteria/drug effects/*isolation & purification ; Child ; Child, Preschool ; *Drug Resistance, Bacterial ; Drug Resistance, Fungal ; Fungemia/epidemiology/microbiology ; Hospitals, Teaching ; Humans ; Infant ; Microbial Sensitivity Tests ; Middle Aged ; Retrospective Studies ; Vancomycin/therapeutic use

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Distribution of TT Virus Genotypes and Genogroups in 69 Healthy and 59 Hepatitis B Virus Infected Korean Individuals.

Han Sung KIM ; Jae Seok KIM ; Min Jung PARK ; Wonkeun SONG ; Hee Jung KANG ; Kyu Man LEE

The Korean Journal of Laboratory Medicine.2007;27(4):257-264. doi:10.3343/kjlm.2007.27.4.257

BACKGROUND: TT virus (TTV) infection is highly prevalent in general population and patients with hepatitis B virus (HBV) infection. The aim of the present study was to determine the distribution of the genotypes and genogroups of TTV in healthy and HBV-infected individuals in Korea. METHODS: Distribution of TTV genotypes and genogroups was investigated in the serum samples of 69 healthy and 59 HBV-infected individuals. PCR products of N22 region were genotyped by sequence analysis. TTV genogroups were determined by 5 different genogroup-specific PCR assays. RESULTS: Among the 20 sequenced isolates, 9 (45%) were genotype 2, 8 (40%) were genotype 1, 2 (10%) were genotype 3, and 1 (5%) was genotype 4. TTV genogroup 4 was found most frequently (52/128), followed by genogroup 3 (42/128), genogroup 1 (35/128), genogroup 5 (32/128), and genogroup 2 (1/128). Mixed infections with different genogroups were frequent. CONCLUSIONS: TTV genotype 2 and 1 are predominant genotypes. TTV genotype 3 was detected for the first time in Korea. TTV genogroups 4 and 3 were predominant genogroups. No significant difference was observed in the distribution of TTV genogroups between healthy and HBV-infected individuals.
Adult ; Amino Acid Sequence ; DNA Virus Infections/diagnosis/*virology ; Female ; Genotype ; Hepatitis B/*complications/diagnosis ; Humans ; Korea ; Male ; Middle Aged ; Molecular Sequence Data ; Phylogeny ; Polymerase Chain Reaction/methods ; Torque teno virus/classification/*genetics

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A Case of CD45-, CD19- Precursor B Cell Acute Lymphoblastic Leukemia with an Atypical Morphology.

Heewon MOON ; Jungwon HUH ; Min Sun CHO ; Hyunsook CHI ; Wha Soon CHUNG

The Korean Journal of Laboratory Medicine.2007;27(4):253-256. doi:10.3343/kjlm.2007.27.4.253

The differential diagnosis of acute lymphoblastic leukemia (ALL) from other small round blue cell tumors in children is very important for proper treatment, but sometimes difficult. CD45 is expressed on almost all-human leukocytes and not expressed on other small round blue cell tumors. Moreover, CD19 is expressed on all stages of B lineage cells and loss of this antigen is very rare in precursor B-cell ALL. We report a case of ALL with atypical morphology and immunophenotype. A 6-yr-old girl presented with fever and weight loss. Many abnormal cells with variable sized, high nuclearcytoplasmic ratio and distinct nucleoli were counted 23% in bone marrow. The results of immunophenotyping were negative for CD45, CD19, CD10, CD20, CD3, CD5, CD7, CD56/16, CD13, and CD33 and positive for CD22, TdT, and CD34. The immunohistochemical staining of bone marrow biopsies was positive for CD79a, CD10, TdT and CD99. The cytogenetic study showed normal karyotype but amplification of MLL (myeloid/lymphoid or mixed lineage leukemia) gene was suggestive in the fluorescent in situ hybridization. The patient received the standard chemotherapy for acute lymphoblastic leukemia and reached complete remission.
Acute Disease ; Antigens, CD19/*analysis ; Antigens, CD45/*analysis ; Bone Marrow/*pathology ; Child ; Female ; Humans ; In Situ Hybridization ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/*pathology

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A Case of IgA kappa Light Chain Deposition Disease and Combined Adult Fanconi Syndrome with Auer rod-like Intracytoplasmic Inclusions in Plasma Cells and Proximal Renal Tubular Cells.

Jimin KAHNG ; Jeana KIM ; Suk Joon SHIN ; Kyungja HAN

The Korean Journal of Laboratory Medicine.2007;27(4):248-252. doi:10.3343/kjlm.2007.27.4.248

We report a case of IgA kappa light chain deposition disease and combined adult Fanconi syndrome with Auer rod-like intracytoplasmic inclusions in plasma cells and proximal renal tubular cells in a 54-yr-old female. Cytochemical stainings revealed a strong acid phosphatase activity of the inclusions and weak periodic acid-Schiff positivity, whereas the reactions for peroxidase and alpha-naphthyl acetate esterase were negative. An immunostaining verified IgA-kappa inside the plasma cells. Kidney biopsy revealed Bence Jones cast nephropathy with kappa light chain positivity, and Congo red staining was negative. Electron microscopy showed needle-shaped crystals located in tubular epithelial cells.
Fanconi Syndrome/diagnosis/etiology/*pathology ; Female ; Humans ; *Immunoglobulin A/analysis ; Immunoglobulin kappa-Chains/analysis ; Inclusion Bodies/*ultrastructure ; Kidney Tubules, Proximal/pathology/*ultrastructure ; Middle Aged ; Paraproteinemias/*pathology ; Plasma Cells/pathology/*ultrastructure

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A Case of Therapy-Related Acute Monocytic Leukemia following Low-dose of Etoposide Treatment for Hemophagocytic Lymphohistiocytosis.

Young Ik SEO ; Rojin PARK ; Tae Youn CHOI ; Jeung Won SHIN ; Jong Ho WON ; Hee Sook PARK ; Nam Soo LEE ; Duck CHO

The Korean Journal of Laboratory Medicine.2007;27(4):244-247. doi:10.3343/kjlm.2007.27.4.244

We report a case of therapy-related acute myeloid leukemia after low-dosed topoisomerase II inhibitor (etoposide) treatment for hemophagocytic lymphohistiocytosis (HLH). A 62-yr-old female patient had previously been treated with a HLH-94 protocol containing a low-dose of etoposide (total dose of 300 mg/m2). Thirty-one months later, the patient was admitted to the hematology department with general weakness and upper respiratory infection symptoms. Peripheral blood smear and bone marrow study revealed acute monocytic leukemia. There was no evidence of myelodysplastic syndrome, and a cytogenetic study showed no chromosomal abnormalities.
Bone Marrow/pathology ; Etoposide/administration & dosage/*adverse effects ; Female ; Humans ; Leukemia, Monocytic, Acute/*chemically induced/*diagnosis/therapy ; Lymphohistiocytosis, Hemophagocytic/complications/*drug therapy ; Middle Aged

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Prevalence of FLT3 Internal Tandem Duplication in Adult Acute Myelogenous Leukemia.

Jeong Nyeo LEE ; Hye Ran KIM ; Jeong Hwan SHIN ; Young Don JOO

The Korean Journal of Laboratory Medicine.2007;27(4):237-243. doi:10.3343/kjlm.2007.27.4.237

BACKGROUND: fms-like tyrosine kinase (FLT3), a member of the class III receptor tyrosine kinases, regulates the proliferation and differentiation of hematopoietic stem cells. An internal tandem duplication of the FLT3 gene (FLT3/ITD) has been reported in acute myelogenous leukemia (AML) and may be associated with a poor prognosis. In this study we determined the prevalence and prognostic significance of FLT3/ITD in adult AML patients. METHODS: This study included 52 adult de novo AML. Exon 14 and 15 of the FLT3 gene were amplified by PCR and the PCR products were analyzed by 3730XL DNA analyzer (Applied Biosystems, USA) and GeneMapper Software. RESULTS: FLT3/ITD was found in 15 (28.8%) of the 52 AML patients. The presence of FLT3/ITD was significantly associated with absolute leukocyte counts (P=0.002) and bone marrow blast counts (P=0.036). FLT3/ITD was also more frequent in patients with normal karyotype (7 of 18) than in those with cytogenetic aberrations (3 of 25). Patients with t (15;17) showed a higher prevalence of FLT3/ITD (2 of 7). FLT3/ITD was significantly associated with overall survival (P<0.042). CONCLUSIONS: Our data indicate that FLT3/ITD is a common alteration in adult AML patients. Although based on a study with a limited number of AML patients, FLT3/ITD is a prognostic marker in patients with AML.
Adult ; Aged ; Aged, 80 and over ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 17 ; Female ; Humans ; Leukemia, Myeloid, Acute/*genetics ; Male ; Middle Aged ; *Mutation ; Polymerase Chain Reaction ; Prognosis ; Survival Analysis ; Tandem Repeat Sequences/*genetics ; fms-Like Tyrosine Kinase 3/*genetics

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