Cytogenetic results of choroidal nevus growth into melanoma in 55 consecutive cases

Purpose

To investigate the cytogenetic results of choroidal nevus with photographically-documented transformation into choroidal melanoma.

Chronic hepatitis virus infection in patients with multiple myeloma: clinical characteristics and outcomes

OBJECTIVES:

Cytotoxic agents and steroids are used to treat lymphoid malignancies, but these compounds may exacerbate chronic viral hepatitis. For patients with multiple myeloma, the impact of preexisting hepatitis virus infection is unclear. The aim of this study is to explore the characteristics and outcomes of myeloma patients with chronic hepatitis virus infection.

METHODS:

From 2003 to 2008, 155 myeloma patients were examined to determine their chronic hepatitis virus infection statuses using serologic tests for the hepatitis B (HBV) and C viruses (HCV). Clinical parameters and outcome variables were retrieved via a medical chart review.

RESULTS:

The estimated prevalences of chronic HBV and HCV infections were 11.0% (n = 17) and 9.0% (n = 14), respectively. The characteristics of patients who were hepatitis virus carriers and those who were not were similar. However, carrier patients had a higher prevalence of conventional cytogenetic abnormalities (64.3% vs. 25.0%). The cumulative incidences of grade 3-4 elevation of the level of alanine transaminase, 30.0% vs. 12.0%, and hyperbilirubinemia, 20.0% vs. 1.6%, were higher in carriers as well. In a Kaplan-Meier analysis, carrier patients had worse overall survival (median: 16.0 vs. 42.4 months). The prognostic value of carrier status was not statistically significant in the multivariate analysis, but an age of more than 65 years old, the presence of cytogenetic abnormalities, a beta-2-microglobulin level of more than 3.5 mg/L, and a serum creatinine level of more than 2 mg/dL were independent factors associated with poor prognosis.

CONCLUSION:

Myeloma patients with chronic hepatitis virus infections might be a distinct subgroup, and close monitoring of hepatic adverse events should be mandatory.     

126例伴骨髓侵犯的B细胞非霍奇金淋巴瘤患者染色体分析及其临床意义

目的 研究伴有骨髓侵犯的B细胞非霍奇金淋巴瘤(NHL)患者的染色体异常特点,探讨其预后意义.方法 回顾分析在我院诊断为骨髓侵犯且具有完整染色体结果的126例B细胞NHL患者的临床资料.染色体检查采取24 h短期培养法,R显带技术分析.结果 ①126例患者中弥漫大B细胞淋巴瘤(DLBCL)49例,淋巴浆细胞淋巴瘤(LPL)24例,套细胞淋巴瘤(MCL)21例,滤泡性淋巴瘤(FL)12例,边缘区淋巴瘤(MZL)11例,小细胞淋巴瘤(SLL)9例.②126例患者中52例(41.3%)患者存在染色体异常,其中克隆性染色体异常38例,非克隆性染色体异常14例.22例为单一染色体异常,30例具有两种以上染色体异常.38例具有可分析的克隆性染色体异常者中,假二倍体22例(57.9%),低二倍体6例(15.8%),超二倍体10例(26.3%).14例具有可分析的非克隆性染色体异常者中,假二倍体10例(71.4%),超二倍体4例(28.6%).DLBCL、MCL、MZL、LPL、FL、SLL患者中分别有36例(73.4%)、8例(38.1%)、4例(36.4%)、2例(8.3%)、1例(8.3%)、1例(11.1%)检出染色体异常;③克隆性染色体异常(P=0.049)、具有两种以上染色体异常(P=0.045)以及第2号(P=0.011)、3号(P=0.013)、9号(P=0.048)、11号(P=0.044)、17号(P=0.002)、18号(P=0.015)、20号(P=0.004)染色体克隆性异常为DLBCL的预后不良因素.有两种以上染色体异常(P=0.039)以及3号(P=0.028)、13号(P=0.045)染色体克隆性异常是MCL的预后不良因素.未发现特定的染色体异常与其他淋巴瘤类型的预后相关.结论 采取骨髓标本进行染色体分析,侵袭性淋巴瘤染色体异常率高于惰性淋巴瘤;以复杂核型异常为主,部分特定染色体异常有一定的预后意义.

Abstract：

Objective To study the cytogenetic characteristics of B cell non-Hodgkin' s lymphoma (B-NHL) with bone marrow involvement, and to explore the clinical significance and prognosis. Methods Clinical data of 126 B-NHL patients with bone marrow involement diagnosed in our hospital were retrospectively analyzed. Chromosome banding analysis was performed after 24 h culture. Results ①The B-NHLs included were diffuse large B-cell lymphoma (DLBCL) 38.9% (49 cases), lymphoplasmacytic lymphoma (LPL) 19% (24 cases), mantle cell lymphoma(MCL) 16.7% (21 cases), follicular lymphoma (FL) 9.5% (12 cases), marginal zone lymphoma (MZL) 8.7% (11 cases) and small lymphocytic lymphoma (SLL) 7.1% (9 cases). ②Chromosome aberrations (CA) were detected in 52 of 126 patients(41.3% ) by conventional cytogenetics( CC), including clonal CA 38 cases, and non-clonal CA 14 cases. Ploidy levels in 38 clonal CA cases were pseudodiploid (57.9%), hypodiploid ( 15.8% ) and hyperdiploid (26.3%). The incidence of chromosomal abnormalities among DLBCL, MCL, MZL, LPL, FL and SLL was 73.4%,38.1%, 36.4%, 8.3%, 8.3% and 11.1%, respectively. ③Clonal CA, CA more than two kinds, and CA of chromosomes 2, 3, 9, 11, 17, 18 and 20 were associated with shorter overall survival (OS) in DLBCL.More than two kinds of CA and CA of chromosome 3, 13 were associated with shorter OS in MCL. Conclusions The incidence of CA was higher in aggressive lymphoma than in indolent lymphoma. Complex CA were quite common, and some specific CA might have prognostic significance.     

分子和细胞遗传学新技术在出生缺陷诊断及防治中的应用

SincePinkelandGray[1] firstappliedFluorescenceinsituhybridization (FISH)techniquestocytogeneticdiagnosis ,FISHtechnology ,acombinationofmolecu larandconventionalcytogenetictechniques (molecularcytogenetics) ,hasbroughtmoderncytogeneticstoanewerawithsignif…     

Genetic analysis of a group of mentally retarded children

Genetic analysis of 169 mentally retarded (MR) children from Madras, revealed chromosomal abnormalities in 17%. Down syndrome was the major chromosomal anomaly (24/169=14.2%). These included three cases of trisomy-21 mosaics, and one case ofde novo Robertsonian translocation. MR children with chromosomal abnormalities were either mildly or moderately retarded. Syndromes with known etiology occurred in 3% of the MR cases. Microcephaly, neonatal anoxia, perinatal stress and pharmacological attempt for abortion were found to be important pathogenic factors associated with MR. Most of the microcephalies (11/ 169=6.5%) were severely retarded, whereas those associated with neonatal anoxia and perinatal stress were either mildly or moderately retarded. Birthorder effects were found only among Down syndrome patients. Segregation analysis of the three groups of proband families (viz. mild, moderate and severe MR) indicated that autosomal recessive mode of inheritance is compatible in moderate and severe MR proband families. The proportion of X-linked instances of MR is estimated to be about 22% of the cases.     

Outcomes of Patients With Relapsed Core Binding Factor-Positive Acute Myeloid Leukemia

Purpose

To determine the factors associated with outcomes in patients with core binding factor acute myeloid leukemia (CBF-AML) in first relapse.

Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Purpose  

To find the frequency and types of major chromosomal abnormalities with nonobstructive azoospermia and severe oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in Isparta (South of Turkey), and to investigate the general characteristics in this infertile male population.