Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with inv(16)/t(16;16)(p13.1;q22) and/or CBFβ-MYH11 / 中国实验血液学杂志

OBJECTIVE@#To summarize the clinical and laboratory characteristics of patients with acute myeloid leukemia (AML) with inv(16)/t(16;16) (p13.1;q22), and to analyze the risk factors affecting the prognosis of the patients.@*METHODS@#AML patients with inv(16)/t(16;16) (p13.1;q22) and/or CBFβ-MYH11+ admitted to the Department of Hematology, The First Affiliated Hospital of Soochow University from January 1, 2008 to October 30, 2019 were retrospective analyzed, the clinical and laboratory indicators, as well as treatment plans and efficacy evaluations of the patients were all recorded. Furthermore, related factors affecting the overall survival (OS) and event-free survival (EFS) of the patients were analyzed.@*RESULTS@#Among 151 AML patients with inv(16)/t(16;16) (p13.1;q22) and/or CBFβ-MYH11+, the percentage of additional chromosomal abnormalities was about 27.8%, and the most common additional chromosomal abnormality was +22 (33/151, 21.8%), followed by +8 (11/151, 7.3%). There were 112 patients with perfect NGS examination, and the result showed the most common accompanying gene mutations were KIT mutation (34/112, 30.4%) and FLT3 mutation (23/112, 20.5%). Univariate analysis showed that factors affecting EFS included: NE≤0.5×109/L (P=0.006) and combined K-RAS mutation (P=0.002); Factors affecting OS included: Age≥50 years old (P<0.001) and NE≤0.5×109/L (P=0.016). Multivariate analysis showed that NE≤0.5×109/L (P=0.019) was the risk factors affecting OS. The proportion of bone marrow eosinophilia (BME)≥10.00% (P=0.029) was the risk factors affecting EFS.@*CONCLUSION@#The prognosis for those newly diagnosed AML patients who were of advanced age, the high proportion of bone marrow eosinophils, K-RAS mutations, and agranulocytosis is poor. The treatment plans can be adjusted in the early stage to improve the prognosis of such patients.

Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report

Inv(16)(p13.1q22) in acute myeloid leukemia (AML) is a common chromosomal abnormality. It leads to the core-binding factor ß-subunit (CBFβ)/smooth muscle myosin heavy chain 11 (MYH11) fusion gene. Different breakpoints were observed in the CBFβ gene at 16q22 and the MYH11 gene at 16p13.1. For this reason, different CBFβ/MYH11 fusion genes are generated, with more than 13 types having been reported to date. Type I CBFβ/MYH11 fusion transcripts are very rare, with only 10 cases being reported to date. This case report describes a primary AML patient with inv(16)(p13.1q22) and a rare type I CBFβ/MYH11 fusion gene. The morphological analysis did not conform to the typical M4eo. Abnormal eosinophils were less than 5%, and there was obvious dysgranulopoiesis. The patient was in hematological and genetic remission for 487 days after the initial chemotherapy cycles. However, the CBFβ/MYH11 fusion had been constantly positive. Moreover, the presence of non-type A fusions may affect its biology and clinical prognosis. Therefore, further studies on understanding its biological and prognostic significance are essential.

Computed tomography evaluation of internal nasal valve angle and area and its correlation with NOSE scale for symptomatic improvement in rhinoplasty / Avaliação do ângulo e da área da válvula nasal interna por tomografia computadorizada e sua correlação com a escala NOSE na melhora sintomática pós rinoplastia

Abstract Introduction: Nasal obstruction is one of the most frequent otolaryngologic complaints; and the collapse of the internal nasal valve is one the main causes of the nasal air flow obstruction. Objective: We aimed to evaluate internal nasal valve by using reformatted CT-scans pre- and post- rhinoplasty at 3 months and to assess its correlation to symptomatic improvement of nasal obstruction using the NOSE scale. Methods: A prospective observational study was conducted between March 2017-May 2018 in a tertiary care otorhinolaryngology center. We included patients suffering from nasal obstruction secondary to internal nasal angle collapse and nasal deformity. Patients with sinusitis, nasal polyposis, and nasal masses were excluded. Results: Twenty consecutive patients underwent rhinoplasty, with a mean age (22.2 ± 2.8), with majority of males (n = 14; 70%). There was no significant correlation between pre- and post- CT-scans of the internal nasal valve angle/area and NOSE scores. A high significant difference was detected between mean pre- and post- NOSE scores (p < 0.0001), which was absent in CT-scan results. Conclusion: Reformatted CT-scans measurements of internal nasal valve area and angle were not of value. NOSE scores pre- and post- rhinoplasty had a significant value to determine degree of obstructive symptom improvement.

Resumo Introdução: A obstrução nasal é uma das queixas otorrinolaringológicas mais comuns, e o colapso ou obstrução da válvula nasal interna é a principal causa da obstrução das vias aéreas nasais. Objetivo: Objetivamos avaliar a válvula nasal interna pré, e 3 meses pós-rinoplastia utilizandotomografias computadorizadas reformatadas e avaliar sua correlação com a melhora do sintoma obstrutivo utilizando a escala NOSE, do Inglês Nasal Obstruction Symptom Evaluation. Método: Um estudo observacional prospectivo foi realizado entre março de 2017 e maio de 2018 em um centro de otorrinolaringologia de atenção terciária. Foram incluídos pacientes que apresentavam obstrução nasal secundário a colapso da valva nasal interna e deformidade nasal. Pacientes com sinusite, polipose nasal e tumores nasais foram excluídos. Resultados: Vinte pacientes consecutivos, a maioria do sexo masculino (n = 14; 70%) com média de idade de 22,2 ± 2,8 anos, foram submetidos a rinoplastia eincluídos no estudo. Não houve correlação significante entre as avaliações tomográficas pré / pós cirúrgicas do ângulo/área da valva nasal interna e os escores NOSE. Foi detectada uma diferençã altamente significante entre os escores médios da escala NOSE entre o pré e pós-operatório (p < 0,0001), mas não nos resultados da avaliação por tomografia computadorizada. Conclusão: As medidas reformatadas de tomografias computadorizadas da área e ângulo da valva nasal interna pré e pós cirúrgicas não tiveram valor. Entretanto, os escores da escala NOSE pré e pós-rinoplastia mostraram uma diferença significante ao determinar o grau de melhora do sintoma obstrutivo.

Caso atípico de leucemia mieloide aguda con coexistencia de NPM1-A e inversión del cromosoma 16 / A rare case of acute myeloid leukemia with coexistence of NPM1-A mutation and chromosome 16 inversion

Introducción: La leucemia mieloide aguda (LMA) es un grupo heterogéneo de desórdenes clonales con una gran variabilidad en términos de patogénesis, características morfológicas, genéticas e inmunofenotípicas. Las mutaciones en el gen NPM1 representan una de las más comunes en las LMA y está asociada con una respuesta clínica favorable. Por citogenética, la inversión del cromosoma 16 define el subgrupo de las LMA de factor de unión al grupo con un pronóstico favorable. Objetivo: Describir un caso con diagnóstico de LMA en los cuales el estudio molecular del gen NPM1 y de la inv(16) fueron positivos. Caso clínico: A nivel molecular, la hibridación in situ fluorescente fue positivo a la inv(16) y por biología molecular fue positivo tanto a la inv(16) como al gen NPM1-A, elementos de baja frecuencia de aparición. Se le administró a la paciente un esquema de poliquimioterapia no intensiva para mejorarla clínicamente. Después de una mejoría clínica inicial, la paciente comenzó con complicaciones y falleció. Conclusiones: La coexistencia de estas dos mutaciones es muy poco frecuente en pacientes con LMA, y a pesar de ser de buen pronóstico la paciente falleció a los pocos días de tratamiento(AU)

Introduction: Acute myeloid leukemia (AML) is a heterogeneous group of clonal disorders with great variability in terms of pathogenesis, morphological, genetic and immunophenotypic characteristics. NPM1 mutations represent one of the most common in AML and are associated with favorable clinical response. By cytogenetics, chromosome 16 inversion defines, with a favorable prognosis, the core‐binding factor for the subgroup of AMLs Objective: To describe a AML case in which the molecular study of the NPM1 gene and the chromosome 16 inversion were positive. Clinical case: At the molecular level, fluorescent in situ hybridization was positive for chromosome 16 inversion and, by molecular biology, it was positive for both chromosome 16 inversion and for the NPM1-A gene, elements with a low frequency of appearance. The patient was administered a non-intensive combination as part of a chemotherapy regimen to improve her clinical status. After initial clinical improvement, the patient began with complications and died. Conclusions: The coexistence of these two mutations is very rare in patients with AML. Despite presenting a good prognosis, the patient died after a few days of treatment(AU)

Myeloid Sarcoma of Peritoneum in Acute Myeloid Leukemia Patient with Inversion of Chromosome 16 / 대한내과학회지

Myeloid sarcoma is an extramedullary myeloid neoplasm that usually involves the skin, soft tissues, and lymph nodes. Myeloid sarcoma is found in 2.5-9.1% of acute myeloid leukemia patients, usually those with t (8;21), while inv (16) is rarely associated with myeloid sarcoma. Consequently, little is known of the characteristics and incidence of inv (16) in myeloid sarcoma. Myeloid sarcoma in acute myeloid leukemia patients with inv (16) is most often found in the abdominal lesions; the intestinal tract is involved most commonly, in the form of a mass. Here, we report an unusual myeloid sarcoma presenting as peritoneal carcinomatosis in acute myeloid leukemia with inv (16) that appeared to be ascites.

Characteristics of hematologic malignancies with coexisting t(9;22) and inv(16) chromosomal abnormalities

BACKGROUND: The coexistence of t(9;22)(q34;q11.2) and inv(16)(p13q22) chromosomal abnormalities is extremely uncommon, and only a small number of such cases have been reported. Here, we characterized 7 cases of hematologic malignancy exhibiting t(9;22) and inv(16) coexistence. METHODS: We reviewed the cytogenetic data for hematologic malignancies treated at the Catholic Blood and Marrow Transplantation Center between January 2004 and June 2013. We identified 7 cases exhibiting t(9;22) and inv(16) coexistence. In addition, we analyzed mutations in the IKZF1, NPM1, FLT3, N-RAS, K-RAS, c-KIT, and TP53 genes. RESULTS: Four cases of chronic myelogenous leukemia (CML; 1 chronic phase, 2 accelerated phase, and 1 blast phase) and 3 cases of acute myeloid leukemia (AML; 1 de novo and 2 therapy-related) were identified. The percentages of circulating blasts and bone marrow eosinophils were higher in AML cases than in CML cases (53% vs. 5% and 30% vs. 5.5%, respectively). The proportions of each chromosomal abnormality were used along with follow-up karyotyping results to identify secondary changes. In BCR/ABL, a p210 fusion transcript was associated with CML, whereas a p190 fusion transcript was associated with AML. One patient with AML harbored 2 mutations: c-KIT D816V and TP53 E11Q. All patients except 1 with CML blast phase sustained clinical remission after treatment, which included an imatinib mesylate regimen. CONCLUSION: This study shows that observations of bone marrow morphology, initial and follow-up cytogenetic studies, and karyotyping of BCR/ABL1 and CBFB/MYH11 provide valuable information for characterizing hematologic malignancies exhibiting t(9;22) and inv(16) coexistence.

A Case of Concomitant Inv(3)(q21q26) and Cryptic BCR/ABL1 Rearrangement in the Blast Crisis of Chronic Myeloid Leukemia

Structural abnormalities of the long arm of chromosome 3 (3q) have been associated with elevated platelet count and hyperplasia of megakaryocytes with dysplasia in various hematological malignancies. Some cases of chronic myeloid leukemia (CML) may acquire inv(3) (q21q26) or t(3;3)(q21;q26), and such a finding usually indicates accelerated or blast phase of their disease. We report a case of concomitant inv(3) (q21q26) and cryptic BCR/ABL1 rearrangement in the blast crisis of CML. The patient was 17-year-old male and showed marked leukocytosis and thrombocytosis at admission. Leukocyte differentials showed eosinophilia, basophilia and increased blasts. The bone marrow was hypercellular with granulocytic hyperplasia, and dysmorphic megakaryocytes were frequently observed. Conventional cytogenetic analysis revealed only an inv(3)(q21q26) and no Philadelphia chromosome was observed. FISH and RT-PCR analyses confirmed cryptic BCR/ABL1 rearrangement. The patient responded poorly with imatinib and induction chemotherapy, and expired during the course of 2nd chemotherapy with increased dose of imatinib.

Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly

PURPOSE: The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). MATERIALS AND METHODS: We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data. RESULTS: Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13). CONCLUSION: Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia / 대한진단검사의학회지

BACKGROUND: Although the pericentric inversion of chromosome 9, inv(9)(p11q13), is generally considered a normal variation, it is also associated with solid tumors and several hematologic malignancies such as biphenotypic acute leukemia, ALL, AML, and myeloproliferative neoplasms. However, to the best of our knowledge, there have been no reports that suggest an association between CML and constitutional pericentric inversion of chromosome 9. The purpose of this retrospective study was to investigate the frequency and clinical features of CML patients with concomitant inv(9) and t(9;22)(q34;q11.2) variation at our institution. METHODS: We reviewed the bone marrow chromosome database entries between October 2006 and December 2008 to identify patients with concomitant inv(9) and t(9;22) variations. Laboratory and clinical data of the patients were obtained from the electronic medical record system. RESULTS: Among the 51 CML patients, 4 (7.8%) had concomitant inv(9) and t(9;22) variations. CONCLUSIONS: Although the association between inv(9) variation and CML is still controversial, we believe that hematologists should consider the role of constitutional inv(9) variation in CML patients to avoid overlooking the impaired engraftment potential of hematopoietic stem cells harboring inv(9). Therefore, we suggest that more effort should be invested to develop cytogenetic tests for detecting constitutional inv(9) variation in CML patients.

Cytogenetic abnormalities in patients with reproductive dysfunction / 대한산부인과학회지

OBJECTIVE: The aim of this study was to investigate the relationship between chromosome abnormalities and male or female reproductive dysfunction and to be convinced of the role of pericentric inversion of chromosome 9 (inv (9)) on human phenotypes. METHODS: Between Jan. 1995 and Dec. 2003, results of 1713 chromosomal analyses which were referred to our cytogenetic laboratory were analyzed. Study groups consisted of 658 cases of men and 18 cases of women with unexplained infertility, 65 cases of men and 109 cases of women with history of recurrent spontaneous abortion, 78 cases of women with primary amenorrhea, 61 cases of women with secondary amenorrhea and, 382 cases of men and 342 cases of women with no reproductive dysfunction (control group). The incidence of inv (9) among each group was compared with control group. RESULTS: Chromosomal abnormalities were found in 110 cases (16.7%), 2 cases (11.1%), 3 cases (4.6%), 15 cases (13.8%), 29 cases (37.2%) and 10 cases (16.4%) in each group. The incidence of chromosomal abnormalities in male infertility was higher than previous reports, and 10 cases of inv (9) were detected in male infertility group. In cases of women with infertility and secondary amenorrhea, we couldn't find the relevance between reproductive dysfunction and chromosomal abnormality. In cases of women with recurrent spontaneous abortion, 6 cases (5.5%) had autosomal translocation and 7 cases (6.42%) had inv (9). In cases with primary amenorrhea, most chromosomal abnormalities found were related to sex chromosome such as Turner's syndrome, similar to other investigations. Thirty three cases of inv (9) was detected among the whole 1713 chromosomal analyses (1.93%). In cases of male infertility, 10 cases (1.52%) had inv (9), not significantly different with male control group. But 7 cases (6.42%) of inv (9) in women with recurrent spontaneous abortion were significantly higher than female control group (p<0.05). CONCLUSION: Because considerable proportion of patients with reproductive dysfunction had various cytogenetic abnormalities, the chromosomal analysis should be considered as a diagnostic tool in the evaluation of reproductive dysfunction such as infertility, recurrent spontaneous abortion, and amenorrhea. We also found that Inv (9) had a significantly increased incidence in female recurrent spontaneous abortion.

A Case of Therapy-related Acute Myeloid Leukemia associated with inv(16) / 대한진단검사의학회지

The inv(16)(p13q22) is found in de novo AML and is closely associated with the FAB subtype M4eo. The inv(16) is rarely reported in therapy-related AML (t-AML) patients. Herein, we report a case of t-AML with inv(16) after combination chemotherapy using antimitotic agent and alkylating agent (cis-platin-paclitaxel) for ovarian serous cystadenocarcinoma.

Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases.

Background: The chromosomal polymorphism of short arms of acrocentric chromosomes and heterochromatin variation of Chromosomes 1, 9, 16 and Y have been reported in humans. The pericentric inversion of Chromosome 9 is commonly seen in normal humans and the frequency estimated to be 1 to 3% in general population and inherited in mendalian fashion or might occur spontaneously without any clinical significance. Aim: The aim of the study was to study the frequency of inv(9) and its clinical correlation with human genetic diseases. Materials and Methods:0 The chromosomal analysis using GTG-banding was carried out in 3,392 cases suspected with genetic diseases. Results: The pericentric inversion frequency of different chromosomes in our study was 1.24% and frequency of inv(9)(p12q13) was high (64.29%) compared to other pericentric inversions in our study. A high frequency (9.33%) of inv(9)(p12q13) was detected in children with dysmorphic features and congenital anomalies. Conclusion: As a high frequency of inv(9)(p12q13) detected in children with dysmorphic features, the inv(9) definitely have a role in the abnormal phenotype development. During inversion event there might be loss or suppression of euchromatin chromosome region and hence detailed chromosomal break point study is important to understand the clinical significance of the pericentric inversion of Chromosome 9.

A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion / 대한산부인과학회지

46,X,inv(Y)/45,X mosaicism is a extremely rare sex chromosomal disorder. We experienced an unusual mosaic Turner syndrome case in a 29-years old Korean woman with a phenotypic female, primary amenorrhea and immature secondary sexual characteristics. Cytogenetic analysis including GTG banding revealed 46,X,inv(Y)(q11.2q12?)[15]/45,X[35] mosaicism, and X/Y chromosome Fluorescence in situ hybridization (FISH) analysis result was ish (SRY-,DYZ3-)[16]/ ish der(Y)del(Y)(q12)inv(Y)(p11.3q12)(SRY sp, DYZ3-)[4] and its meaning was coexistence of microdeletion and inversion of Y chromosome. To our knowledge, this karyotype may be a very rare variant of Turner syndrome, and we report this case with brief review of related literature.

Constitutional Pericentric Inversion of Chromosome 9 inv (9) in Pediatric Leukemia and Stem Cell Transplantation / 대한소아혈액종양학회지

PURPOSE: Pericentric inv (9) occurs in about 0.8~2% of the normal population. The implication of inv (9) in hematological malignancies and/or in stem cell transplantation (SCT) has not been thoroughly elucidated. METHODS: To further delineate the characteristics, we describe our experiences of inv (9) in 2 patients who underwent SCTs and 1 patient with ALL. RESULTS: Case 1. An 11-year-old girl with AML M2 showed 46, XX, inv (9). After remission, her consolidation cycles were associated with slow platelet recovery. She underwent autologous BMT, however, the engraftment was rather slow, and relapsed at 7 months. 2nd remission was achieved after prolonged cytopenia. She underwent reduced intensity unrelated cord blood transplant. Her posttransplant course was uneventful with ANC & gt; 500/microL at D+18 and platelet > 50 k/microL at D+38. Karyotyping showed 46, XY. She is now well at 16 months after 2nd transplant. Case 2. A 10-year-old girl presented with severe aplastic anemia. Karyotyping was normal. She underwent matched sibling transplantation. Her post-transplant course was uneventful with rapid engraftment. Cytogenetics showed 46, XX, inv (9), which was originated from her sister. She is now well at 70 months posttransplant. Case 3. A 3-year-old boy with ALL had a karyotype of 46, XY, inv (9) (p11q12). His clinical course was uneventful. CONCLUSION: The first case showed typical course of delayed recovery after chemotherapy and delayed engraftment after autologous transplantation. inv (9) should be considered in cases of otherwise unexplainable delay in recovery after chemotherapy or delayed engraftment after SCT. Further studies involving larger number of cases should be warranted to delineate the exact role of inv (9) in pediatric leukemia and SCTs.

Distribution of Pathogenic Genes and Molecular Typing of Yersinia pseudotuberculosis Isolated from Spring Water in Seoul

In order to investigate pathogenic genes and genetic relationships of Y. pseudotuberculosis strains, We isolated 9 strains of Y. pseudotuberculosis from 380 spring water sites in Seoul from 2000 to 2003. All isolates were distributed to the northeast area in Seoul. The isloates were analyzed for chromosomal virulence gene (inv) and plasmid-borne genes (yadA and lcrF) using PCR to assume pathogenicity. As a result, all isolates were positive for the inv gene, but only five isolates (55.6%) were positive for the yadA and lcrF genes. RAPD and PCR-ribotyping were tested and all isolates were grouped with 90% similarity. RAPD revealed 4 clusters and PCR-ribotyping revealed 2 clusters. The result of this experiments confirmed the view that RAPD had better powerful discrimination than PCR-ribotyping and RAPD typing was effective to distinguish between various strains of Y. pseudotuberculosis from spring water.

An Evaluation of Prenatal Triple Marker Screening / 대한진단검사의학회지

BACKGROUND: Maternal serum triple marker screening has become standard in prenatal care to help identify women at risk for neural tube defects (NTDs), trisomy 21 (Down syndrome) and trisomy 18 (Edwards' syndrome). This study was undertaken to evaluate the results of maternal serum triplemarker screening performed in pregnant women visiting Chung-Ang University Hospital and to assess the effectiveness of prenatal triple-marker screening. METHODS: Alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol (uE3) were measured by radioimmunoassay (Amerlex-M 2nd Trimester Kit, Ortho Clinical Diagnostics, Amersham, Aylesbury, UK) in 506 pregnant women visiting Chung-Ang University Hospital. Women at risk for NTDs, trisomy 21 and trisomy 18 were identified using the computer program (HIT Program). Amniocentesis with chromosome analysis was performed in women who had positive screening results. RESULTS: Positive screening results were found in 41 (8.1%) women among 506 pregnant women who had undergone prenatal triple-marker screening between 14 and 22 weeks of gestation. Of these 41 women, 39 (7.7%) had a positive screening results for Down syndrome and 2 (0.4%) for NTDs. Thirty-two women with positive screening results for Down syndrome chose amniocentesis for chromosomal analysis, of which the results showed normal in 28 (87.5%), inv(9) in 3 (9.4%) and 48, XXY, +18 in 1 (3.1%). Although all but one of the fetuses with normal karyotypes and inv(9) were born with normal phenotypes, one pregnancy with 48, XXY, +18 was terminated due to fetal death in-utero. One of 2 pregnancies affected with NTDs was correctly identified, showing meningocele, abdominal wall defect and scoliosis. CONCLUSIONS: Our data confirm chromosome abnormalities or congenital anomalies in about 5% of the pregnancies with positive triple-marker screening results, suggesting an effective prenatal screening test. It has been found that the presence of inv(9) in fetuses might be accompanied by false-positive results for Down syndrome.

Characteristics of Acute Hemorrhagic Central Retinal Vein Occlusion

PURPOSE: To investigate the characteristics of patients with acute hemorrhagic central retinal vein occlusion. METHODS: We reviewed the medical records of 124 eyes of 122 patients who were diagnosed to have central retinal vein occlusion within one month after onset and followed for six months or longer. Eyes were divided into three groups - ischemic, hemorrhagic and nonischemic - and the visual prognosis and complications were compared among the three groups. RESULTS: The hemorrhagic group had a tendency to be a male and younger than the other groups. The mean initial and final visual acuity of the hemorrhagic group was logMAR 1.23 and 1.54, respectively, and showed significant decrease rate of visual acuity compared to that of ischemic group (p=0.022), logMAR 1.31 and 1.35, respectively. Iris neovascularization (INV) / angle neovascularization (ANV) occurred in 6 eyes (7.4%) of the ischemic group and in 3 eyes (12.5%) of the hemorrhagic group. The mean period form the initial examination to INV/ANV occurrence was 4.67 and 2.33 months, respectively. All eyes of the hemorrhagic group and 4 eyes (66.7%) of the ischemic group with INV/ANV progressed to neovascular glaucoma. CONCLUSIONS: The hemorrhagic group had a worse final visual acuity, a greater decreasing rate of visual acuity, and earlier occurrence of INV/ANV than ischemic group. Close follow-up and proper management are warranted in patients with acute hemorrhagic central retinal vein occlusion.

A Case of Normal Delivery of a Fetus with Prenatally Diagnosed 47,XYY,inv(9)(p11;q13) / 대한주산의학회잡지

A 35-year-old multigravida woman received triple marker screening tests in 16weeks 2days of gestation. MSAFP and MShCG values were increased, whereas MSuE3 value was decreased. So we performed amniocentesis for karyotyping and confirmed male fetus with 47,XYY,inv(9)(p11:q13). A neonatal survey showed the incidence of XYY male to be approximately 1:1000, the majority of cases are phenotypically normal. XYY males are taller than normal and show delayed mental development. A pericenteric inversion of chromosome 9 that extends from p11 to q13 is considered a normal chromosome variant, but the carrier is at high risk to produce abnormal offspring. As she did not want to terminate her pregnancy, she delivered vaginally in 39weeks 6days of gestation. As a result of physical examination, the neonate showed a normal phenotype. We report it with brief review.

Cytogenetic Findings in Patients with Acquired Aplastic Anemia / 대한임상병리학회지

BACKGROUND: Cytogenetic abnormalities have been described in a few patients with otherwise typical aplastic anemia, and the possible clonal nature of this disease is a controvertial issue. METHODS: We analyzed bone marrow samples from 57 acquired aplastic anemia patients. Cytogenetic studies were performed using the standard G-banding with trypsin-Giemsa staining. For 18 patients who showed neither analyzable mitotic cells nor more than 5 metaphases in the conventional chromosome analysis, the interphase FISH analysis was performed using CEP 8 and 7 for the detection of trisomy 8 and monosomy 7, which are the most commonly reported chromosomal abnormalities in patients with aplastic anemia. RESULTS: Of the 57 aplastic anemia patients, 10 patients (17.5%) had chromosomal abnormalities at the time of diagnosis. The chromosomal abnormalities were as follows: 3 cases of trisomy 8, and one case each of trisomy 8 and 9, t(8;21), inv(16), t(4;14), t(X;19), del(10), and monosomy 10. One patient with trisomy 8 showed persistent chromosomal abnormality after immunosuppressive therapy and evolved to myelodysplastic syndrome after 53 months. CONCLUSIONS: The frequency of the chromosomal abnormalities in acquired aplastic anemia at diagnosis seems to be higher than those of previous studies in Caucasian population. A proportion of acquired aplastic anemia may be associated with lineage-commitment progenitor cell defect and has potential for a myeloid specific leukemic evolution.