Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.

We aimed to investigate the prevalence and relative contributions of LS and non-LS mutations in patients with endometrial cancer in Korea. We retrospectively reviewed the medical records of 204 patients diagnosed with endometrial cancer who underwent a germline next generation sequencing multigene panel test covering MLH1, MSH2, MSH6, PMS2, and EPCAM at three tertiary centers. Thirty patients (14.

Development of an Automated Image Analyzer for Microvessel Density Measurement in Bone Marrow Biopsies.

Angiogenesis is important for the proliferation and survival of multiple myeloma (MM) cells. Bone marrow (BM) microvessel density (MVD) is a useful marker of angiogenesis and an increase in MVD can be used as a marker of poor prognosis in MM patients. We developed an automated image analyzer to assess MVD from images of BM biopsies stained with anti-CD34 antibodies using two color models.

Evaluation of Elecsys HTLV-I/II assay in comparison with ARCHITECT rHTLV-I/II assay with Korean samples.

Background: The seroprevalence rate of human T-lymphotropic virus I and II (HTLV-I/II) in Korean blood donors has been known as 0.004%, and HTLV-I/II Ab screening test has been performed since 2008 in Korea. Korea Ministry of Food and Drug Safety (MFDS) approved two chemiluminescent microparticle immunoassays (CMIA) for testing HTLV-I/II antibody, ABBOTT PRISM HTLV-I/HTLV-II and ARCHITECT rHTLV-I/II.

Chromothripsis in Treatment Resistance in Multiple Myeloma.

Multiple myeloma (MM) is a malignant disease caused by an abnormal proliferation of plasma cells, of which the prognostic factors include chromosomal abnormality, β-2 microglobulin, and albumin. Recently, the term chromothripsis has emerged, which is the massive but highly localized chromosomal rearrangement in response to a one-step catastrophic event. Many studies have shown an association of chromothripsis with the prognosis in several cancers; however, few studies have investigated it in MM.

Commutability and concordance of four hepatitis B virus DNA assays in an international multicenter study.

Background: HBV DNA is the most important molecular marker in hepatitis B, used to determine treatment indication and monitoring. Most patients require lifelong hepatitis B virus (HBV) management, thus viral load (VL) monitoring may be performed at different laboratories, with different HBV assays, which may result in different VL results. This multicenter study compares the commutability and concordance of results from four different HBV DNA assays: CAP/CTM HBVv2, HPS/CTM HBVv2 and the new cobas 6800/8800 HBV and cobas 4800 HBV assays.

Comparison of Two Apheresis Systems of COBE and Optia for Autologous Peripheral Blood Stem Cell Collection.

Peripheral blood stem cell (PBSC) transplantation following myeloablative therapy is a mainstay of treatment for various types of malignancies. This study aimed to evaluate the differences between the Optia MNC and COBE Spectra MNC systems (Terumo BCT, Japan) according to apheresis procedures and the parameters of apheresis, products, and collection. The clinical data of 74 patients who underwent autologous PBSC collection from July 2012 to July 2015 were reviewed retrospectively.

Adverse prognostic impact of vascular endothelial growth factor gene polymorphisms in patients with diffuse large B-cell lymphoma.

Vascular endothelial growth factor (VEGF) plays an important role in angiogenesis and progression of cancer and its expression was associated with gene polymorphisms. Since the impact of polymorphisms of the VEGF on non-Hodgkin lymphoma prognosis has not been fully elucidated, we investigated 149 diffuse large B-cell lymphoma (DLBCL) patients treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) at the National Cancer Center, Korea. Five polymorphisms were analyzed with clinical characteristics as well as international prognostic index (IPI).

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Purpose: We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic.

Methods: In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics of patients were evaluated.

Prognostic Implications of Monosomies in Patients With Multiple Myeloma.

Background: Cytogenetic analysis aides in risk stratification for patients with multiple myeloma (MM). Although several cytogenetic aberrations have been reported to be prognostic, less is known about the association between the presence of monosomies and prognosis. The present study evaluated the prevalence and prognostic implications of monosomies in patients with MM.

Adverse prognostic impact of bone marrow microvessel density in multiple myeloma.

Background: Angiogenesis is important for the proliferation and survival of multiple myeloma (MM) cells. Bone marrow (BM) microvessel density (MVD) is a useful marker of angiogenesis and is determined by immunohistochemical staining with anti-CD34 antibody. This study investigated the prognostic impact of MVD and demonstrated the relationship between MVD and previously mentioned prognostic factors in patients with MM.

Determination of specimen storage conditions for measuring isoagglutinin titers.

Background: This study aimed to determine the optimal specimen storage conditions for isoagglutinin titration by changing storage time and temperature.

Study Design And Methods: Serum specimens from 60 individuals were stored at room temperature (RT, 25 °C) or at 4 °C and tested every 24 hours until 96 hours by the immediate spin (IS) method and the anti-human globulin method using dithiothreitol (DTT-AHG). These titer results were compared with the titers which were measured when the samples arrived.

Expression of myeloid antigen in neoplastic plasma cells is related to adverse prognosis in patients with multiple myeloma.

We evaluated the association between the expression of myeloid antigens on neoplastic plasma cells and patient prognosis. The expression status of CD13, CD19, CD20, CD33, CD38, CD56, and CD117 was analyzed on myeloma cells from 55 newly diagnosed patients, including 36 men (65%), of median age 61 years (range: 38-78). Analyzed clinical characteristics and laboratory parameters were as follows: serum β 2-microglobulin, lactate dehydrogenase, calcium, albumin, hemoglobin, serum creatinine concentrations, bone marrow histology, and cytogenetic findings.

Elevated red blood cell distribution width as a simple prognostic factor in patients with symptomatic multiple myeloma.

Red blood cell distribution width (RDW) is a parameter reported in complete blood cell count tests, and has been reported as an inflammatory biomarker. Multiple myeloma (MM) is known to be associated with inflammatory microenvironments. However, the importance of RDW has been seldom studied in MM.

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant.

Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic.

Isolation and identification of Geosmithia argillacea from a fungal ball in the lung of a tuberculosis patient.

Geosmithia argillacea, an anamorph of Talaromyces eburneus, is a thermophilic filamentous fungus that has a phenotype similar to that of the Penicillium species, except for the creamy-white colonies and cylindrical conidia. Recently, a new genus called Rasamsonia has been proposed, which is to accommodate the Talaromyces and Geosmithia species. Here, we report the first Korean case of G.