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

The genes related to specific events or pathways in bacteria are frequently localized proximate to the genome of their neighbors, as with the structures known as operon, but eukaryotic genes seem to be independent of their neighbors, and are dispersed randomly throughout genomes. Although cases are rare, the findings from structures similar to prokaryotic operons in the nematode genome, and the clustering of housekeeping genes on human genome, lead us to assess the genomic association of genes as functional subunits. We evaluated the genomic association of neighboring genes on chromosomes 4 and 5 of Arabidopsis thaliana with and without respectively consideration of the scaffold/matrix-attached regions (S/MAR) loci. The observed number of functionally identical bigrams and trig rams were significantly higher than expected, and these results were verified statistically by calculating rho-values for weighted random distributions. The observed frequency of functionally identical big rams and trig rams were much higher in chromosome 4 than in chromosome 5, but the frequencies with, and without, consideration of the S/MAR in each chromosome were similar. In this study, a genomic association among functionally related neighboring genes in Arabidopsis thaliana was suggested.
Arabidopsis* ; Bacteria ; Chromosomes, Human, Pair 4 ; Chromosomes, Human, Pair 5 ; Genes, Essential ; Genome ; Genome, Human ; Humans ; Operon

The authors report three microcystic meningiomas with its characteristic immunohistochemical findings and chromosomal pattern. Three patients with surgically treated microcystic meningioma were studied for its radiological, histopathological findings, and chromosomal analysis was done in the one patient. Tumors were convexity meningioma in the frontal area. The tumors were enhanced homogenously in the two, and enhanced inhomogenously with multiple small cysts in the other one on preoperative magnetic resonance image. Pathological examination showed marked nuclear pleomorphism, many small cysts, hyaline thickening in blood vessel wall, and mucinous background, compatable to microcystic type. EMA and vimentin were positive on the immunohistochemical stain. Chromosomal analysis showed tetrasomies of chromosome 5, 13, 17, and 20, and trisomies of chromosome 6, 7, 9, 11, 12, 16, 19, and 21, which are quite different from those of benign meningioma.
Blood Vessels ; Chromosomes, Human, Pair 5 ; Chromosomes, Human, Pair 6 ; Humans ; Hyalin ; Meningioma* ; Mucins ; Tetrasomy ; Trisomy ; Vimentin

OBJECTIVETo determine a complex chromosomal rearrangement by advanced molecular cytogenetic techniques and analyze its clinical effect.

METHODSA complex chromosomal rearrangement (CCR) involved in chromosomes 5, 16 and 20 in a 29-year-old male carrier was determined by chromosomal microdissection and multicolor fluorescence in situ hybridization (M-FISH), and family degree investigation was further performed.

RESULTSThe karyotype of the case was a complex chromosomal translocation among chromosomes 5, 20 and 16, and accompanied with a band of chromosome 20 inserted into chromosome 5. His mother and sister both had the same abnormal karyotype by familial investigation.

CONCLUSIONThe combined use of M-FISH and chromosome microdissection is a powerful tool to determine CCR. The complex chromosomal rearrangement could be transmitted stably in the family, but still the carriers could give birth to a healthy baby by chance.

Adult ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 16 ; genetics ; Chromosomes, Human, Pair 20 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Cytogenetic Analysis ; methods ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Pregnancy ; Translocation, Genetic

OBJECTIVETo evaluate the value of a panel fluorescence in situ hybridization (FISH) in the detection of common chromosome abnormalities in myelodysplastic syndrome (MDS).

METHODSTwenty cases of MDS patients, whose karyotypes were unknown by the FISH examiner beforehand, were analyzed with a panel FISH using YAC248F5 (5q31), YAC938G5 (7q32), CEP8 and YAC 912C3 (20q12) probes to detect the frequently occurring chromosome abnormalities (-5/5q, -/7q-, +8, 20q-) in MDS. Then the results were compared to those of conventional cytogenetics (CC).

RESULTSAmong 20 cases, 13 cases were found to carry common chromosome abnormalities by panel FISH (trisomy 8, five cases; -5/5q-, one case; 20q-, five cases; 5q- accompanying 20q-, one case; complex abnormalities, one case). However, on CC examination, only five cases were found to have common chromosomal abnormalities (20q-, four cases; 5q- accompanying 20q-, one case). In addition, trisomy 21, marker chromosome and complex abnormalities comprising -5, -7 and marker chromosomes were seen in one case each, the rest were normal.

CONCLUSIONPanel FISH is a useful tool of molecular cytogenetics in the detection of common chromosome abnormalities in MDS.

Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosomes, Human, Pair 20 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics

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

Anemia, Macrocytic ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome ; Humans ; Trisomy

Biomarkers, Tumor ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 5 ; Dermatofibrosarcoma ; genetics ; metabolism ; Humans ; Oligonucleotide Array Sequence Analysis ; Oncogene Proteins, Fusion ; biosynthesis ; genetics ; RNA, Messenger ; biosynthesis ; genetics ; Ring Chromosomes ; Skin Neoplasms ; genetics ; metabolism ; Translocation, Genetic ; Trisomy

Trisomy 22 is closely associated with inv(16) or t(16;16) and could be a marker of cryptic rearrangement of CBFB/MYH11 in acute myeloid leukemia (AML). Trisomy 22 not associated with CBFB/MYH11 rearrangement is a rare event. Here, we report a case diagnosed as refractory anemia with excess blasts-2 (RAEB-2) with sole trisomy 22 in the absence of CBFB/MYH11 rearrangement. The cytogenetic study of bone marrow cells disclosed trisomy 22 in 10% of metaphase cells analyzed. The other chromosomal abnormalities were not found. Fluorescence in situ hybridization (FISH) using CBFB/MYH11 probe to detect cryptic inv(16)(p13q22) showed negative result. We also excluded rearrangements of chromosome 5, 7, 8, 20, and ETV6 by FISH. Sole trisomy 22 not associated with inv(16) is a true entity.
Anemia, Refractory ; Bone Marrow Cells ; Chromosome Aberrations ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 5 ; Cytogenetics ; Fluorescence ; In Situ Hybridization ; Leukemia, Myeloid, Acute ; Metaphase ; Myelodysplastic Syndromes ; Trisomy

OBJECTIVETo analysis the relationship among cytogenetics, morphology and prognosis of the myelodysplastic syndrome (MDS) patients.

METHODSCytogenetics analysis of bone marrow cells was performed by direct method and/or 24 h culture method. The karyotype was analysed by R banding technique.

RESULTSOut of the 50 MDS patients, 22 were found with abnormal karyotype: two of them were +8, four of them were -7, four of them were 5q-, nine of them were 7q-, two of them were 20q- and one of them was 6q-. There are six patients had complex changes in chromosome.

CONCLUSION5q-, -7, 7q- are the most classic translocation in the MDS. The patients with 5q- have better prognosis and the patients with -7, 7q- have worse prognosis. Cytogenetics is very important in the MDS's diagnosis, progress and prognosis.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; Chromosomes, Human, Pair 7 ; Female ; Humans ; Karyotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; Prognosis