To investigate the role of BRCA1 and BRCA2 mutations in Korean patients with sporadic breast cancer, 793 breast cancer patients were analyzed by denaturing high performance liquid chromatography and direct sequencing. The 793 breast cancer patients enrolled in this study had no family history of affected first- or second-degree relatives with breast and/or ovarian cancer. Seventy-nine different sequence variations were identified, of which 34 were novel. Fifteen deleterious mutations were detected in 20 out of 793 patients (2.5%): 11 frameshift mutations and 4 nonsense mutations (seven in BRCA1 and eight in BRCA2), and no recurrent or founder mutations were observed in BRCA mutation screening. However, three mutations (K467X, 3972delTGAG, and R2494X in BRCA2) were identified in other studies of the Korean population. Of 793 patients, the clinicopathological information was obtained in 135 patients, who included 20 deleterious mutation-positive and 115 deleterious mutation-negative groups. The median age at diagnosis, histologic type, histologic grade and T stage did not show statistically significant difference between these two groups. BRCA-mutation-associated tumors showed lower estrogen receptor, progesterone receptor, and HER-2/neu but higher p53 expression. Although poor prognostic features were noted in BRCA-associated tumors, we did not find statistically significant differences. The present study will be helpful in the evaluation of the need for the genetic screening of germline BRCA mutations and reliable genetic counseling for sporadic breast cancer patients.

Hemozoin is known to be an end product of hemoglobin digestion by the malaria parasite. Hemozoin is a birefringent crystal, and thus hemozoin-containing white blood cells (WBCs) may show the atypical light scattering pattern. The purpose of this study was to investigate pseudoeosinophilia associated with malaria infection using a Sysmex XE-2100 hematology analyzer (Sysmex Corporation, Kobe, Japan). The study group included 16 patients with malaria infection. Of these, 38% showed erroneously high eosinophil counts and atypical eosinophil distributions in the WBCs scattergram, which was due to the presence of hemozoin-containing neutrophils. In two patients, their erroneously high eosinophil counts declined as the parasitemia decreased with treatment. In conclusion, hematologists should consider the possibility of pseudoeosinophilia as a result of hemozoin-containing WBCs and confirm the WBC differential count by microscopy in cases of malaria infection.

BackgroundDiffuse interstitial lung diseases (DILDs) form a part of a heterogeneous group of respiratory diseases. Bronchoalveolar lavage (BAL) analysis has been used for differential diagnosis of DILDs, but their clinical usefulness is controversial. The aim of this study was to investigate the clinical usefulness of BAL cellular analysis with lymphocyte subsets for the differential diagnosis of DILDs.MethodsA total of 69 patients diagnosed with DILDs were enrolled. Basic demographic data, BAL cellular analysis with lymphocyte subsets, histology, and high resolution computed tomogram (HRCT) findings were analyzed and compared as per disease subgroup.ResultsSignificant differences were found between groups in the proportion of neutrophils (P=0.0178), eosinophils (P=0.0003), T cells (P=0.0305), CD4 cells (P=0.0002), CD8 cells (P<0.0001), and CD4/CD8 ratio (P<0.0001). These findings were characteristic features of eosinophilic pneumonia and sarcoidosis. Other parameters were not significantly different between groups. At the cut-off value of 2.16 for sarcoidosis, CD4/CD8 ratio showed sensitivity of 91.7% (95% CI, 61.5-98.6%) and specificity of 84.2% (95% CI, 72.1-92.5%).ConclusionsRoutine analysis of BAL lymphocyte subset may not provide any additional benefit for differential diagnosis of DILDs, except for conditions where BAL is specifically indicated, such as eosinophilic pneumonia or sarcoidosis.

Summary. The insuf®cient number of haemopoietic stem cells (HSCs) in cord blood (CB) is the major potential limitation to widespread use of CB for marrow replacement. Cytokine-mediated ex vivo expansion has been proposed as a means of increasing the number of CB HSCs for transplantation. However, the biology of CB HSCs during cytokinemediated ex vivo expansion, such as apoptosis or expression of adhesion molecules, has not yet been elucidated. We have investigated the patterns of apoptosis and CD44 expression on human CB CD34 cells during ex vivo expansion. CD34 cells isolated from human CB were cultured in a stroma-free liquid culture system with thrombopoietin (TPO),¯t3-ligand (FL), stem cell factor (SCF), and/or granulocyte-colony stimulating factor (G-CSF). During the culture, for up to 5 weeks, apoptosis was measured by staining with 7-amino-actinomycin D (7-AAD) along with concurrent immunophenotyping of CD34 and CD44 with three-colour¯ow cytometry. In the cultures with TPO, an apoptotic fraction with down-regulated CD44 appeared from the fourth day up to the second week. G-CSF also induced apoptosis but in a different manner; the apoptotic fraction without down-regulation of CD44 appeared unremittingly for up to 5 weeks. FL did not induce apoptosis or down-regulation of CD44. These ®ndings show that apoptosis is indeed involved in the regulation of CB CD34 cells in ex vivo expansion and the patterns of apoptosis are dependent on the type of cytokines used. The distinct patterns of apoptosis suggest different mechanisms of TPO and G-CSF in inducing apoptosis, which still remains to be elucidated.

Immunophenotype is one of the most useful tool for the identification of leukemia subtypes [1][2][3][4][5] and can be assigned within a few hours after bone marrow sampling.The typical immunophenotypic feature of acute promyelocytic leukemia (APL) has been reported as CD34-, HLA-DR-, CD13+, and CD33+ [6][7][8]. It has been reported that HLA-DR antigens are consistently negative in APL, whereas the majority of non-APL cases are positive for HLA-DR expression [9,10]; therefore, HLA-DR negativity is known to be useful for distinguishing APL from other AML subtypes, even before the PML-RARA gene rearrangement is identified by cytogenetic or molecular stud- Background : HLA-DR negativity is known to be useful for distinguishing acute promyelocytic leukemia (APL) from other subtypes of AML, but non-APL cases without HLA-DR antigen expression have been reported. The purpose of this study was to evaluate and compare the characteristics of APL, HLA-DR negative non-APL, and HLA-DR positive non-APL cases.Methods : A total of 114 cases of AML admitted at Ewha Womans University, Mokdong Hospital between March 1997 and June 2006 were included in this study. A diagnosis of AML was made based on the results of morphology, cytochemistry, immunophenotype, cytogenetics, and/or fluorescence in situ hybridization.Results : Among the 114 AML patients, HLA-DR antigen was not expressed in 39 (34%), including 24 non-APL (62%) and 15 APL patients (38%). The HLA-DR negative non-APL group showed higher leukocyte counts and positive rate of CD19 expression than did APL group (P<0.05). The remaining laboratory findings were not statistically different between the HLA-DR negative non-APL and APL groups. CD34 expression was more frequent in the HLA-DR positive non-APL group than in the HLA-DR negative non-APL group and APL group. Of the 24 patients with HLA-DR negative non-APL, 7 patients had disseminated intravascular coagulation and 2 patients showed morphologic features similar to those of APL.Conclusions : CD19 expression and leukocyte count may be helpful for differentiating HLA-DR negative non-APL from APL. However, the final diagnosis and classification should be confirmed by cytogenetic or molecular studies. (Korean J Lab Med 2007;27:313-7)