Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 19 ; Humans ; Leukemia, Promyelocytic, Acute ; genetics ; Male ; Translocation, Genetic

OBJECTIVETo explore the value of fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) techniques in the detection of genetic changes in chronic myeloid leukemia (CML) with variant Philadelphia translocation (vPh).

METHODSCytogenetic preparations from 10 CML patients with vPh confirmed by R banding were assayed with dual color dual fusion FISH technique. If only one fusion signal was detected in interphase cells, metaphase cells were observed to determine if there were derivative chromosome 9[der (9)] deletions. Meanwhile, the same cytogenetic preparations were assayed with M-FISH technique.

RESULTSOf the 10 CML patients with vPh, 5 were detected with der (9) deletions by FISH technique. M-FISH technique revealed that besides the chromosome 22, chromosomes 1, 3, 5, 6, 8, 10, 11 and 17 were also involved in the vPh. M-FISH technique also detected the abnormalities which were not found with conventional cytogenetics (CC), including two never reported abnormalities.

CONCLUSIONThe combination of CC, FISH and M-FISH technique could refine the genetic diagnosis of CML with vPh.

Adult ; Aged ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 17 ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; diagnosis ; genetics ; Male ; Middle Aged ; Reproducibility of Results ; Sensitivity and Specificity ; Translocation, Genetic ; genetics ; Young Adult

OBJECTIVETo investigate the common chromosome abnormalities of the patients with multiple myeloma in China and the relationships of cytogenetic abnormalities and clinical features.

METHODSIn interphase fluorescence in-situ hybridization (FISH) analysis, a panel of probes including D13S319 (13q14.3), RB1(RB1 gene), IgH (14q32), P53(17p13), 1q21(1q21 gene) was used to study the cytogenetic abnormalities of 31 patients with multiple myeloma; and the clinical implications of cytogenetic abnormalities were investigated.

RESULTThe frequencies of the partial deletion of chromosome 13, translocation involving the 14q32 region, abnormalities in 1q21 and deletion of 17p13 were 45%, 68%, 50%, and 35% in the study, respectively. The abnormalities of both the partial deletion of chromosome 13 and translocation involving the 14q32 region were found in 35% of the patients. 79% of the patients with del (13q) had 14q32 translocations simultaneously. All the patients with positive detection of probe D13S319 were found to have translocation of 14q32 at the same time. There were correlations between the partial deletion of chromosome 13 and translocation involving the 14q32 region. The overall response rate of induction treatment was 67.7%. No significant difference was found in patients with positive or negative cytogenetic abnormalities of del(13q), 14q32 translocation, del(17p13), and 1q21 abnormalities.

CONCLUSION13q deletion, IgH rearrangement, chromosome 1 abnormality and 17p13 deletion are the common cytogenetic abnormalities of MM patients in China. There is a significant correlation between the presence of 14q32 translocations and chromosome 13 deletion in MM patients.

Adult ; Aged ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 17 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Multiple Myeloma ; genetics ; Translocation, Genetic

OBJECTIVETo study the genetic basis of aberrant crypt foci (ACF), which serve as a very early morphological alteration during the development of carcinogenesis by analyzing the loss of heterozygosity (LOH).

METHODSDNA from 35 colorectal carcinomas (CRC) and 34 matched ACF were isolated by microdissection. LOH of microsatellite loci at 18q12, 18q21, 5q12, 5q21, 3p21, 2p16, 17q21, 17q11 and 11p13 was detected by means of ABI-SEQUENCER and GeneScan software was applied for analysis.

RESULTSThe rate of LOH in ACF (41.18%) was less than that in carcinoma (68.57%) (P < 0.05). The profile of LOH rates at loci 18q12, 5q12, 3p21, 17q21, 17q11, 11p13 and 2p16 in ACF was similar to that in carcinoma. The LOH frequencies on 18q12, 18q21, 5q12, 5q21, and 3p21 were higher than that on 17q11 and 11p13. However the rate at 18q21 and 5q21 in ACF was much lower than that in the carcinoma (P < 0.05). The co-existing carcinomas displayed more polypoid growth pattern and located more at the sigmoid colon and rectum. LOH in carcinomas did not correlate with the location, size, type of the carcinoma and Duke's stage.

CONCLUSIONSACF are putative preneoplastic lesions that might represent the earliest morphological lesion with the alteration at molecular genetic level. Our study provides further genetic evidence in the pathogenesis of colorectal carcinomas.

Chromosomes ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 2 ; Chromosomes, Human, Pair 3 ; Chromosomes, Human, Pair 5 ; Colorectal Neoplasms ; genetics ; pathology ; Humans ; Loss of Heterozygosity ; Precancerous Conditions

OBJECTIVETo study the genetic aberrations of ocular extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue (MALT) type occurring in patients from southern China.

METHODSFifty seven paraffin-embedded ocular MALT lymphoma specimens from patients in southern China were studied by interphase fluorescence-in-situ hybridization (FISH) for genetic aberrations including t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/IgH-bcl-10, t(14;18) (q32;q21)/IgH-MALT1 and bcl-6/FOXP1 gene translocations.

RESULTSAmongst the 57 cases studied, 9 cases (15.8%) showed chromosome translocations, including 4 cases (7.0%) of t(11;18)(q21;q21)/API2-MALT1, 1 case (1.8%) of t(14;18) (q32;q21)/IgH-MALT1, 1 case (1.8%) of bcl-6 gene-related chromosome translocation and 3 cases (5.3%) of IgH-unknown translocation partner. FISH revealed 17 cases (29.8%) with 3 copies of bcl-6 gene, 21 cases (36.8%) with 3 copies of MALT1 gene and 12 cases (21.1%) with 3 copies of both genes.

CONCLUSIONSThe MALT lymphoma-associated chromosome translocations t(11;18)(q21;q21)/API2-MALT1 and t(14;18) (q32;q21)/IgH-MALT1 are demonstrated in ocular MALT lymphomas of southern Chinese patients. The prevalence is significantly different from that reported in northern Chinese and northern American patients, indicating a geographic heterogeneity in the MALT lymphoma-associated genetic aberrations. The presence of 3 copies of bcl-6 and MALT1 genes is the commonest genetic abnormalities observed in ocular MALT lymphomas, suggesting a possible role in MALT lymphomagenesis.

Caspases ; genetics ; metabolism ; China ; Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; DNA-Binding Proteins ; genetics ; metabolism ; Eye Neoplasms ; genetics ; metabolism ; Humans ; In Situ Hybridization, Fluorescence ; Lymphoma, B-Cell, Marginal Zone ; genetics ; metabolism ; Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein ; Neoplasm Proteins ; genetics ; metabolism ; Proto-Oncogene Proteins c-bcl-6 ; Translocation, Genetic ; Trisomy

OBJECTIVETo investigate molecular genetic alterations associated with primary and corresponding recurrent glioblastoma multiforme(GBM) and to identify which chromosomal regions of the whole genome may be involved in the recurrence of primary GBM.

METHODSA high-resolution allelotyping study of one patient's primary GBM and corresponding recurrent GBM was performed by PCR-based loss of heterozygosity(LOH) analysis with the use of 382 fluorescent dye-labeled polymorphic microsatellite markers covering all 22 autosomes. The mean genetic distance between two flanking markers is 10 cM.

RESULTSLOH at locus D9S157 on 9p21 and at loci D10S537, D10S185, D10S192, D10S597, D10S587, D10S217 on 10q21.3-26.3 was observed in the primary GBM. As for corresponding recurrent tumor, LOH was observed not only in expanded regions on 9p21 and 10q21.3-26.3 but also on multiple other chromosomal arms, including 1q, 7p,7q, 21q, 20p, 20q, 10p, 19p, 19q.

CONCLUSIONChromosome 9p and 10q may be involved in the development of this GBM. Although histopathological diagnoses of the primary and corresponding recurrent tumor are identical, the recurrence of GBM is characterized by an increased involvement of molecular genetic abnormalities and may be accompanied by inactivation of more tumor suppressor genes.

Adult ; Alleles ; Chromosome Mapping ; methods ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 19 ; genetics ; Chromosomes, Human, Pair 20 ; genetics ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; DNA ; genetics ; Female ; Glioblastoma ; genetics ; pathology ; surgery ; Humans ; Loss of Heterozygosity ; Microsatellite Repeats ; Neoplasm Recurrence, Local

Using the methods of restriction fragment length polymorphism (RFLP) and single strand conformation polymorphism (SSCP) analyses, we have examined 33 cases of human gliomas with various malignant grades to detect the deletions of putative tumor suppressor gene loci, chromosome 10, 13q(retinoblastoma gene, Rb), 17p, and p53 mutation. We observed loss of heterozygosity (LOH) at loci on chromosome 10 (36%), 13q(Rb) (54%), and 17p(50%) in malignant gliomas. There, however was no allelic loss on chromosome 10 and 17p in low-grade gliomas. Rb gene deletions were seen in low-grade gliomas, including oligodendroglioma and ependymoma. This finding suggests that Rb inactivation may be an early genetic event in the development and progression of gliomas. We correlated the results of LOH on chromosome 17p and p53 mutation. Among the 8 cases which showed LOH on chromosome 17p, only three cases (38%) revealed p53 mutations. Low incidence of p53 mutations in cases with chromosome 17p deletions suggests that some other tumor suppressor genes may be located on chromosome 17p.
Astrocytoma/genetics/pathology ; Base Sequence ; Brain Neoplasms/*genetics/pathology ; *Chromosomes, Human, Pair 10 ; *Chromosomes, Human, Pair 13 ; *Chromosomes, Human, Pair 17 ; Comparative Study ; *Gene Deletion ; *Genes, Retinoblastoma ; *Genes, p53 ; Glioma/*genetics/pathology ; Heterozygote ; Human ; Molecular Sequence Data ; *Mutation ; Oligodendroglioma/genetics/pathology ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single-Stranded Conformational

OBJECTIVE: To detect of chromosomal abnormalities in multiple myeloma (MM) patients with fluorescence in situ hybridization (FISH). METHODS: FISH was performed in 20 MM patients using 5 specific DNA probes. The difference in chromosomal abnormalities was compared by FISH and other routine cytogenetic tests. RESULTS: Eighteen of the 20 patients showed chromosomal abnormalities (90%). The positive rates of t(14q32), del(13q14), dup(1q21), and p53 gene were 65% (13 in 20), 55% (11 in 20), 25% (5 in 20), and 15%(3 in 20), respectively. The abnormal rate of the conventional chromosome examination was 15% only. CONCLUSION FISH is more sensitive than traditional chromosomal tests and can be used as an index in prognostic evaluation for MM. Del(13q14) and t(14q32) are the most common chromosomal abnormalities in MM patients.
Chromosome Aberrations ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; Humans ; In Situ Hybridization, Fluorescence ; Multiple Myeloma ; genetics ; Prognosis

OBJECTIVETo systematically explore the occurrence of a novel type of chromosome translocation in human sperm samples.

METHODSSpecific translocation junction fragments were quantified using nested and/or multi-nested PCR in sperm DNA derived from 28 oligospermic patients and 32 normal controls.

RESULTSt(11;22) was detected in 49 samples. At least 4 samples were found to have t(1;22) (p21.2;q11.2), t(17;22) (q11;q11) or t(X;22) (q27;q11). The mutation rate seemed to be associated not with age or semen volume, but with sperm concentration (r = -0.389, P < 0.05) and motility (r = -0.397, P < 0.05). Correlation was not found between homology of palindromic sequences and mutation rate.

CONCLUSIONPalindromic sequence mediated chromosome translocation is common in human sperm, and associated with sperm concentration and motility. Measurement of such mutations may provide a molecular-level reference for assessing sperm quality.

AT Rich Sequence ; Adult ; Base Sequence ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, X ; Humans ; Male ; Middle Aged ; Mutation ; Oligospermia ; genetics ; Spermatozoa ; metabolism ; Translocation, Genetic

OBJECTIVETo explore the molecular cytogenetic characteristics in patients with chronic lymphocytic leukemia (CLL).

METHODSInterphase fluorescence in situ hybridization (FISH) was used to detect trisomy 12, deletion of 13q14 and 17p13 in 60 patients with CLL.

RESULTSOut of the 60 patients, 41 (68.3%) had at least one kind of molecular cytogenetic aberrations. Two (3.3%) had two kinds of abnormalities. Trisomy 12 was found in 12 (20.0%) cases, 13q14 deletion in 24 (40.0%) cases and 17p13 deletion in 5 (11.7%) cases. The number of trisomy 12 cells ranged from 4.0% to 34.0%, 13q14 deletion ranged from 22.0% to 93.0% and 17p13 deletion ranged from 6.0% to 68.0%. There was no significant difference among each Binet stages.

CONCLUSIONFISH is a more rapid, accurate and sensitive technique in analysis of chromosome aberrations in CLL. FISH may provide accurate information of molecular cytogenetics for CLL.

Aged ; Aged, 80 and over ; Chromosome Deletion ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 17 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Lymphocytic, Chronic, B-Cell ; genetics ; Male ; Middle Aged ; Trisomy