scholarly journals Chromosomal imbalances identified by comparative genomic hybridization in sporadic parathyroid adenomas

2002 ◽  
pp. 209-213 ◽  
Author(s):  
JL Garcia ◽  
JC Tardio ◽  
NC Gutierrez ◽  
MB Gonzalez ◽  
JM Hernandez ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
Genetic Gain ◽  
Chromosome 9 ◽  
Comparative Genomic ◽  
Chromosome 11 ◽  
Genomic Hybridization ◽  
Genomic Amplification ◽  
Chromosomal Imbalances ◽  
Parathyroid Adenomas ◽  
Gains And Losses

OBJECTIVE: To identify chromosomal gains and losses in sporadic parathyroid adenomas (PAs). METHODS: Fourteen sporadic PAs were studied by comparative genomic hybridization (CGH). RESULTS: The fourteen studied PAs showed chromosomal imbalances. All cases except one exhibited two or more abnormalities. Chromosomal gains were found in all cases, and three cases (21%) also presented chromosomal losses. Genomic amplification was not observed. Chromosome 9 was involved in ten cases. Recurrent genetic gain was found on 9p22-24 and on 9q34, each in 6 of 14 cases (43%). Other recurrent gains included Xq26 in 6 PAs (43%) and 4q21-28 and 8p22-23, each in 4 of 14 cases (29%). Regions of recurrent genetic loss involved whole chromosome 11 and 20q12-13, each in 2 of 14 cases (14%). CONCLUSIONS: Our findings show chromosomal imbalances in all sporadic PAs studied by CGH, partly confirming previous reports, with the exception that we observed more chromosomal gains than losses. Several regions (9p22-24, 9q34, Xq26, 4q21-28, and 8p22-23) probably deserve further investigation in order to discard the presence of genes involved in parathyroid tumorigenesis.

Automated Screening for Genomic Imbalances in Multiple Myeloma Using Microarray-Based Comparative Genomic Hybridization (mCGH).

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 499-499
Author(s):  
Christiane Wendl ◽  
Bernhard Radlwimmer ◽  
Swen Wessendorf ◽  
Carsten Schwaenen ◽  
Hartmut Döhner ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Comparative Genomic Hybridization ◽  
Plasma Cell ◽  
Comparative Genomic ◽  
Chromosome 11 ◽  
Genomic Hybridization ◽  
Genomic Imbalances ◽  
High Level ◽  
Critical Regions ◽  
Gains And Losses

Abstract Background: Chromosomal abnormalities are detectable in virtually all patients with multiple myeloma (MM) by the use of molecular cytogenetic techniques (e.g. fluorescence in-situ hybridization, FISH; comparative genomic hybridization, CGH). Genomic rearrangements play a crucial role in the pathogenesis of clonal plasma cell disorders and can deliver important prognostic information. Microarray-based comparative genomic hybridization (mCGH) is an innovative technique that enables a genome-wide, high-resolution tumor cell screening for chromosomal imbalances in a single experiment. The aim of the present study was the detailed characterization of genomic gains and losses in MM - in particular the delineation of critical regions - by the use of mCGH. Methods: So far, bone marrow specimens from 55 patients with Salmon &Durie stage II or III MM were analyzed. To achieve a plasma cell proportion greater than 50% before hybridization, CD 138-enrichment by immunomagnetic separation was performed whenever necessary. mCGH chips consisting of approximately 6.400 DNA clones, among them ~3.200 clones covering the whole human genome in 1 Mb increments, the remaining forming contigs from specific genomic regions or containing tumor-relevant genes were applied. Results: 52 out of 55 patients (94.5%) were evaluable by mCGH. Gains and losses of chromosomal material were found in 51 out of 52 patients (98%). In one case, mCGH did not exhibit imbalances but +9q34 and +11q25 was diagnosed by FISH for yet unknown reasons. Genomic losses most frequently involved chromosomes 13 (65%), 1p (39%), 16 (31%), 6 (27%), and 12 (21%), while gains commonly affected chromosomes 1q, 9, 11, 15 (46%), and 19 (35%). High-level amplifications were identified on chromosome 16 in two cases (overall three amplicons involving chromosome bands 16p11-p13, 16q12, and 16q21, respectively) as well as on chromosomes 8 (three amplified segments, one of them containing c-myc at 8q24) and 20q (2 amplifications involving bands 20q13.1 and 20q13.3) in one case each. Data on chromosome 13 deletion was consistent with monosomy 13 in 28 out of 34 cases (82.3%). For the remaining 6 cases with a partial 13q loss, no commonly deleted region could be delineated. In contrast, single critical regions were identified on other chromosomes, e.g. chromosome 14 (+14q23.2-q24.3). A small genomic region defined by only four closely adjacent 11q DNA clones was gained in 23 out of 24 (96%) cases with chromosome 11 extra copies. Conclusions: mCGH allows the detection of genomic imbalances including high-level amplifications in almost all patients with MM and enables a precise delineation of critical regions in this disease. Evaluation of mCGH raw data is ongoing and confirmative FISH analyses are currently under way. Supported by grants from the Deutsche José Carreras Leukämie-Stiftung (DJCLS-R04/04) and the Wilhelm Sander-Stiftung (No. 2002.098.1) to P.L.

scholarly journals Novel Chromosomal Abnormalities Identified by Comparative Genomic Hybridization in Parathyroid Adenomas1

1998 ◽  
Vol 83 (5) ◽  
pp. 1766-1770 ◽  
Author(s):  
Nallasivam Palanisamy ◽  
Yasuo Imanishi ◽  
Pulivarthi H. Rao ◽  
Hideki Tahara ◽  
R. S. K. Chaganti ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Comparative Genomic Hybridization ◽  
Tumor Suppressor Genes ◽  
Chromosomal Abnormalities ◽  
Suppressor Gene ◽  
Comparative Genomic ◽  
Parathyroid Tumor ◽  
Genomic Hybridization ◽  
Suppressor Genes ◽  
Parathyroid Adenomas

The molecular basis of parathyroid adenomatosis includes defects in the cyclin D1/PRAD1 and MEN1 genes but is, in large part, unknown. To identify new locations of parathyroid oncogenes or tumor suppressor genes, and to further establish the importance of DNA losses described by molecular allelotyping, we performed comparative genomic hybridization (CGH) on a panel of 53 typical sporadic (nonfamilial) parathyroid adenomas. CGH is a new molecular cytogenetic technique in which the entire tumor genome is screened for chromosomal gains and/or losses. Two abnormalities, not previously described, were found recurrently: gain of chromosome 16p (6 of 53 tumors, or 11%) and gain of chromosome 19p (5 of 53, or 9%). Losses were found frequently on 11p (14 of 53, or 26%), as well as 11q (18 of 53, or 34%). Recurrent losses were also seen on chromosomes 1p, 1q, 6q, 9p, 9q, 13q, and 15q, with frequencies ranging from 8–19%. Twenty-four of the 53 adenomas were also extensively analyzed with polymorphic microsatellite markers for allelic losses, either in this study (11 cases) or previously (13 cases). Molecular allelotyping results were highly concordant with CGH results in these tumors (concordance level of 97.5% for all informative markers/chromosome arms examined). In conclusion, CGH has identified the first two known chromosomal gain defects in parathyroid adenomas, suggesting the existence of direct-acting parathyroid oncogenes on chromosomes 16 and 19. CGH has confirmed the locations of putative parathyroid tumor suppressor genes, also defined by molecular allelotyping, on chromosomes 1p, 6q, 9p, 11q, 13q, and 15q. Finally, CGH has provided new evidence favoring the possibility that distinct parathyroid tumor suppressors exist on 1p and 1q, and has raised the possibility of a parathyroid tumor suppressor gene on 11p, distinct from the MEN1 gene on 11q. CGH can identify recurrent genetic abnormalities in hyperparathyroidism, especially chromosomal gains, that other methods do not detect.

scholarly journals Characterization of Nonrandom Chromosomal Gains and Losses in Multiple Myeloma by Comparative Genomic Hybridization

Blood ◽  
1998 ◽  
Vol 91 (8) ◽  
pp. 3007-3010 ◽  
Author(s):  
Juan C. Cigudosa ◽  
Pulivarthi H. Rao ◽  
M. Jose Calasanz ◽  
M. Dolores Odero ◽  
Joseph Michaeli ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Comparative Genomic Hybridization ◽  
Plasma Cells ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Banding Analysis ◽  
Chromosomal Changes ◽  
Gains And Losses

Clonal chromosomal changes in multiple myeloma (MM) and related disorders are not well defined, mainly due to the low in vivo and in vitro mitotic index of plasma cells. This difficulty can be overcome by using comparative genomic hybridization (CGH), a DNA-based technique that gives information about chromosomal copy number changes in tumors. We have performed CGH on 25 cases of MM, 4 cases of monoclonal gammopathy of uncertain significance, and 1 case of Waldenstrom's macroglobulinemia. G-banding analysis of the same group of patients demonstrated clonal chromosomal changes in only 13 (43%), whereas by CGH, the number of cases with clonal chromosomal gains and losses increased to 21 (70%). The most common recurrent changes detected by CGH were gain of chromosome 19 or 19p and complete or partial deletions of chromosome 13. +19, an anomaly that has so far not been detected as primary or recurrent change by G-banding analysis of these tumors, was noted in 2 cases as a unique change. Other recurrent changes included gains of 9q, 11q, 12q, 15q, 17q, and 22q and losses of 6q and 16q. We have been able to narrow the commonly deleted regions on 6q and 13q to bands 6q21 and 13q14-21. Gain of 11q and deletion of 13q, which have previously been associated with poor outcome, can thus be detected by CGH, allowing the use of this technique for prognostic evaluation of patients, without relying on the success of conventional cytogenetic analysis.

scholarly journals First Systematic CGH-based Analyses of Ancient DNA Samples of Malformed Fetuses Preserved in the Meckel Anatomical Collection in Halle/Saale (Germany)

2005 ◽  
Vol 53 (3) ◽  
pp. 381-384 ◽  
Author(s):  
H. Tönnies ◽  
A. Gerlach ◽  
R. Klunker ◽  
R. Schultka ◽  
L. Göbbel
Keyword(s):  
19Th Century ◽  
Comparative Genomic Hybridization ◽  
Ancient Dna ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Early 19Th Century ◽  
Chromosomal Imbalances ◽  
Amplification Protocol ◽  
Fetal Malformations

We present the first data on our comparative genomic hybridization (CGH)–based strategy for the analysis of ancient DNA (aDNA) samples extracted from fetuses preserved in the Meckel Anatomical Collection in Halle, Germany. The collection contains numerous differently fixed ancient samples of fetal malformations collected from the middle of the 18th to the early 19th century. The main objective of this study is to establish a “standard” aDNA extraction and amplification protocol as a prerequisite for successful CGH analyses to detect or exclude chromosomal imbalances possibly causative for the malformations described for the fetuses.

Genome-wide survey for chromosomal imbalances in ganglioglioma using comparative genomic hybridization

2002 ◽  
Vol 134 (1) ◽  
pp. 71-76 ◽  
Author(s):  
Xiao-Lu Yin ◽  
Angela Bik-Yu Hui ◽  
Jesse Chung-Sean Pang ◽  
Wai Sang Poon ◽  
Ho-Keung Ng
Keyword(s):  
Comparative Genomic Hybridization ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Chromosomal Imbalances ◽  
Genome Wide ◽  
Genome Wide Survey
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