A Case of Therapy-related Acute Lymphoblastic Leukemia with t(11;19)(q23;p13.3) and MLL/MLLT1 Gene Rearrangement / 대한진단검사의학회지

Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11q23 abnormalities are the most common karyotypic alterations in t-ALL. The t(11;19)(q23;p13) aberration is extremely rare and has not been confirmed at the molecular genetic level. Here, we report a case of t-ALL with t(11;19)(q23;p13.3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer. A 40-yr-old woman developed acute leukemia 15 months after undergoing 6 cycles of adjuvant chemotherapy (doxorubicin 60 mg/m2 and cyclophosphamide 600 mg/m2), radiation therapy (dose, 5,900 cGy), and anticancer endocrine therapy with tamoxifen. The complete blood cell counts and bone marrow examination showed increased blasts and the blasts showed B lineage immunophenotype (positive for CD19, CD34, and cytoplasmic CD79a). Cytogenetic analysis revealed the karyotype 47,XX,+X,t(11;19)(q23;p13.3)[4]/46,XX[16]. FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the MLL-MLLT1 gene rearrangement. The patient underwent induction chemotherapy with fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone (Hyper-CVAD) and achieved complete remission. Subsequently, she underwent consolidation chemotherapy, but died of brain ischemia in the pons and the region of the middle cerebral artery. To our knowledge, this is the first case report of t-ALL with t(11;19)(q23;p13.3) and the MLL-MLLT1 gene rearrangement.

Evaluation of the LG Advansure(TM) Malaria P.f./P.v. real-time QPCR for the Diagnosis of Malaria

BACKGROUND: Malaria is a problematic disease in Korea, and microscopic examination of Giemsa-stained blood smear has been used as the gold standard for its diagnosis. However, this technique is time-consuming and has low sensitivity in samples with low numbers of malarial parasites (<20 parasites/microL). Here, we evaluated the performance characteristics of the LG Advansure(TM) Malaria P.f./P.v. real-time QPCR (LG life sciences, Korea). METHODS: Blood samples from 173 persons who visited Korea University Ansan Hospital were evaluated. QPCR was performed in 73 malaria patients and 100 healthy subjects by using the LG Advansure Malaria P.f./P.v. real-time QPCRR kit, and the results were compared with those of microscopy. The detection limit of this kit was determined by serial dilution of Plasmodium-infected blood with normal blood (blood not infected with Plasmodium). RESULTS: Among the 73 patients that were microscopically confirmed to have malaria (Plasmodium vivax infection, N=70, P. falciparum infection, N=3), 69 patients were diagnosed with P. vivax infection and 3 were diagnosed with P. falciparum infection by LG Advansure(TM) Malaria P.f./P.v. real-time QPCR. Both the tests indicated absence of infection in the 100 healthy subjects. The detection limit of LG Advansure(TM) Malaria P.f./P.v. real-time QPCR was 0.1 parasite/microL. CONCLUSIONS: LG Advansure(TM) Malaria P.f./P.v. real-time QPCR is a very sensitive and specific technique and can be used as a confirmatory test for malaria.

The Frequency of Unexpected Antibodies by Using Two Micro-column Agglutination Systems: DiaMed-ID and Ortho BioVue Systems / 대한수혈학회지

BACKGROUND: Unexpected antibody screening and identification tests are very important for safe blood transfusion. The micro-column agglutination test (MCAT) is widely used due to its simplicity and efficiency for detecting alloantibodies. We analyzed the frequency of unexpected antibodies at three university hospital blood banks, which use two different MCAT systems. METHODS: From February 2002 to December 2009, a total of 295,876 unexpected antibody screening tests were performed at three university hospital blood banks. Two hospital blood banks (Anam and Ansan Hospitals) used the DiaMed-ID system (DiaMed Ag, Switzerland) and the other (Guro Hospital) used the Ortho BioVue system (Ortho-Clinical Diagnostics, USA) for antibody screening and identification tests. RESULTS: The rates of detecting unexpected antibodies on screening test based on the 'tests performed' and the 'persons tested' were 1.16% per test and 0.96% per person in Korea University Guro Hospital, 0.65% and 0.41% in Korea University Anam Hospital and 0.76% and 0.57% in Korea University Ansan hospital, respectively. There were significant differences in the frequencies based on the two different systems (P<0.001). Among the warm antibodies, Rh antibodies were more frequently detected by the DiaMed-ID system, and Lewis antibodies were most frequently detected by the Ortho BioVue System. CONCLUSION: We should carefully interpretate the frequency of unexpected antibodies in the Korean population because the frequencies of unexpected antibodies are different according to different employed micro-column agglutination systems.

Using Genotyping to Identify an A1B(weak) Blood Group / 대한수혈학회지

Since an exact ABO blood type match is essential for transfusion therapy, any ABO discrepancies should be resolved prior to the issuing of blood. The authors confirmed the ABO blood group of a 50-year-old male using genotyping. On a routine blood group test, the cell type was A+; however, anti-B was undetected in his serum. To determine the cause of this ABO discrepancy, an adsorption elution test and saliva test were performed. The presence of a weak B substance was suspected despite no evidence of the B antigen on red blood cells. Polymerase-chain-reaction restriction-fragment-length-polymorphism (PCR-RFLP) and sequencing analysis of exons 6 and 7 demonstrated that his blood type was A1Bweak (the A allele tested as the A105 subtype, while the B allele was most similar to the B302 subtype). Again, using genotyping, we subsequently confirmed the A1Bweak blood type in a leukemic patient who was in complete remission.