OBJECTIVE: The cytogenetic analysis for earlier detection of fetal chromosome aneuploidies is performed from chorionic villus using either long-term culture or direct chromosome preparation. To analyze the cause of pregnancy loss, we also attempt the cytogenetic study in product of conception(POC) using chorionic villi or fetal tissue. But the failure of analysis often occurs in direct preparation of villus cells and product of conception(POC). We studied to evaluate the clinical usefulness of FISH in uncultured chorionic villus cells of culture-failed cases. METHODS: According to the patient's indication, we performed FISH for chromosome 18, 21, X and Y in chorionic villi as well as POC and compared FISH results with their chromosomal studies. RESULTS: We found one trisomy 18 and one trisomy 21 in Chorionic Villus Sampling and one trisomy 18 and one monosomy X(45, X) in POC. The averages for accuracy of FISH were 83-91% and all cases are represented consistent results with their chromosomal studies. Among them, we could analyze using FISH only in 5 cases of culture failure including one case of monosomy X in POC. CONCLUSION: We could detect aneuploidy with uncultured chorionic villus cells in case of culture failure, using FISH, it may be the potential method to assist the cytogenetic study.
Aneuploidy ; Chorion* ; Chorionic Villi Sampling ; Chorionic Villi* ; Chromosomes, Human, Pair 18 ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Female ; Fetus ; Monosomy ; Pregnancy ; Trisomy ; Turner Syndrome

PURPOSE: FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our experience using FISH in prenatal diagnosis and suggest the criteria for the diagnosis of aneuploidy by analyzing the results of FISH test. METHODS: From January, 1999 to May, 2006, 8,613 tests in amniotic fluids obtained from 7,893 pregnant women were performed by using FISH for prenatal diagnosis of trisomy 21, trisomy 18 and trisomy 13. The indications of chromosome study were a screen positive for Down syndrome or Edwards syndrome in maternal serum marker screening test and an advanced maternal age (> or =35 years old). RESULTS: We have the 8,502 informative results from 8,613 tests (98.7%) which is submitted our criteria and the sensitivity is 98.2%. CONCLUSION: FISH on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. But the limitation of FISH is both expensive and labor-intensive.
Amniotic Fluid ; Aneuploidy* ; Biomarkers ; Diagnosis ; Down Syndrome ; Female ; Humans ; Interphase ; Mass Screening ; Maternal Age ; Pregnant Women ; Prenatal Diagnosis* ; Trisomy

Epstein-Barr virus (human herpesvirus-4) is very common virus that can be detected in more than 95% of the human population. Most people are asymptomatic and live their entire lives in a chronically infected state (IgG positive). However, in some populations, the Epstein-Barr virus (EBV) has been involved in the occurrence of a wide range of B-cell lymphoproliferative disorders (LPDs), including Burkitt lymphoma, classic Hodgkin’s lymphoma, and immune–deficiency associated LPDs (post-transplant and human immunodeficiency virus–associated LPDs). T-cell LPDs have been reported to be associated with EBV with a subset of peripheral T-cell lymphomas, angioimmunoblastic T-cell lymphomas, extranodal nasal natural killer/T-cell lymphomas, and other rare histotypes. This article reviews the current evidence covering EBV-associated LPDs based on the 2016 classification of the World Health Organization. These LPD entities often pose diagnostic challenges, both clinically and pathologically, so it is important to understand their unique pathophysiology for correct diagnoses and optimal management.
B-Lymphocytes ; Burkitt Lymphoma ; Classification* ; Diagnosis ; Herpesvirus 4, Human ; Humans ; Lymphoma ; Lymphoma, T-Cell ; Lymphoma, T-Cell, Peripheral ; Lymphoproliferative Disorders* ; T-Lymphocytes ; World Health Organization

BACKGROUND: The Hematopathology Study Group of the Korean Society of Pathologists conducted a nation-wide retrospective analysis of Korean pediatric lymphoma, to provide pathologic data on pediatric/adolescent lymphoma subtypes and features. METHODS: All lymphoma cases of all age groups were collected during a recent 2 year-period (2005-2006) from 32 institutes in Korea. Among 3,686 lymphoma patients, 142 who were age 18 or less were classified according to the World Health Organization (WHO) classification. RESULTS: Among 142 pediatric/adolescent lymphoma patients, Hodgkin lymphoma accounted for 21 (14.8%) and non-Hodgkin lymphoma (NHL) for 121 (85.2%). Hodgkin lymphoma appears to be more common in the pediatric/adolescent age group than in the all-ages group (14.8% vs 4.4%). T- and natural killer cell-NHL was more common in the pediatric/adolescent age group than in the all ages group (46.3% vs 22%). The majority of Korean pediatric/adolescent NHL cases was composed of Burkitt lymphoma, T- or B-lymphoblastic lymphoma, anaplastic large-cell lymphoma, and diffuse large B-cell lymphoma. For lymphoma patients under the age of 6 years, most had B-lymphoblastic or Burkitt lymphoma, which commonly presented at extranodal sites. CONCLUSIONS: The distribution of lymphoma subtypes in the pediatric/adolescent age group is quite different from the distribution of adults, but it was quite similar to distribution in Western countries.
Academies and Institutes ; Adult ; Burkitt Lymphoma ; Hodgkin Disease ; Humans ; Incidence ; Korea ; Lymphoma ; Lymphoma, B-Cell ; Lymphoma, Large-Cell, Anaplastic ; Lymphoma, Non-Hodgkin ; Retrospective Studies ; World Health Organization

BACKGROUND: The aim of study was to determine the relative frequency of malignant lymphoma according to World Health Organization (WHO) classification in Korea. METHODS: A total of 3,998 cases diagnosed at 31 institutes between 2005 and 2006 were enrolled. Information including age, gender, pathologic diagnosis, site of involvement and immunophenotypes were obtained. RESULTS: The relative frequency of non-Hodgkin lymphoma (NHL) and Hodgkin lymphoma (HL) was 95.4% and 4.6%, respectively. B-cell lymphomas accounted for 77.6% of all NHL, while T/natural killer (T/NK)-cell lymphomas accounted for 22.4%. The most frequent subtypes of NHL were diffuse large B-cell lymphoma (42.7%), extranodal marginal zone B-cell lymphoma (MZBCL) of mucosa-associated lymphoid tissue (19.0%), NK/T-cell lymphoma (6.3%) and peripheral T-cell lymphoma (PTCL), unspecified (6.3%), in decreasing order. The relative frequency of HL was nodular sclerosis (47.4%), mixed cellularity (30.6%), and nodular lymphocyte predominant (12.1%) subtypes. Compared with a previous study in 1998, increase in gastric MZBCL and nodular sclerosis HL, and slight decrease of follicular lymphoma, PTCL, and NK/T-cell lymphoma were observed. CONCLUSIONS: Korea had lower rates of HL and follicular lymphoma, and higher rates of extranodal NHL, extranodal MZBCL, and NK/T-cell lymphoma of nasal type compared with Western countries. Changes in the relative frequency of lymphoma subtypes are likely ascribed to refined diagnostic criteria and a change in national health care policy.
Academies and Institutes ; Delivery of Health Care ; Hodgkin Disease ; Korea ; Lymphocytes ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell ; Lymphoma, B-Cell, Marginal Zone ; Lymphoma, Follicular ; Lymphoma, Non-Hodgkin ; Lymphoma, T-Cell, Peripheral ; Sclerosis ; World Health Organization