scholarly journals Array-comparative genomic hybridization in sporadic benign pheochromocytomas

2009 ◽  
Vol 16 (2) ◽  
pp. 505-513 ◽  
Author(s):  
Francien H van Nederveen ◽  
Esther Korpershoek ◽  
Ronald J deLeeuw ◽  
Albert A Verhofstad ◽  
Jacques W Lenders ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
High Frequency ◽  
Chromosomal Abnormalities ◽  
Neurofibromatosis Type ◽  
The Other ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Von Hippel Lindau ◽  
A Genome ◽  
High Resolution Analysis

Pheochromocytomas (PCC) are catecholamine-producing tumors arising from the adrenal medulla that occur either sporadically or in the context of hereditary cancer syndromes, such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau disease (VHL), neurofibromatosis type 1, and the PCC-paraganglioma syndrome. Conventional comparative genomic hybridization studies have shown loss of 1p and 3q in the majority of sporadic and MEN2-related PCC, and 3p and 11p loss in VHL-related PCC. The development of a submegabase tiling resolution array enabled us to perform a genome-wide high-resolution analysis of 36 sporadic benign PCC. The results show that there are two distinct patterns of abnormalities in these sporadic PCC, one consisting of loss of 1p with or without concomitant 3q loss in 20/36 cases (56%), the other characterized by loss of 3p with or without concomitant 11p loss in 11/36 (31%). In addition, we found loss of chromosome 22q at high frequency (35%), as well as the novel finding of high frequency chromosome 21q loss (21%). We conclude that there appear to be two subgroups of benign sporadic PCC, one of which has a pattern of chromosomal abnormalities that is comparable with PCC from patients with MEN2 and the other that is comparable with the PCC that arise in patients with VHL disease. In addition, genes on 21q and 22q might play a more important role in PCC pathogenesis than had been assumed thus far.

scholarly journals Chromosomal Regions in Prostatic Carcinomas Studied by Comparative Genomic Hybridization, Hierarchical Cluster Analysis and Self-Organizing Feature Maps

2002 ◽  
Vol 24 (4-5) ◽  
pp. 167-179 ◽  
Author(s):  
Torsten Mattfeldt ◽  
Hubertus Wolter ◽  
Danilo Trijic ◽  
Hans‐Werner Gottfried ◽  
Hans A. Kestler
Keyword(s):  
Cluster Analysis ◽  
Comparative Genomic Hybridization ◽  
Hierarchical Cluster Analysis ◽  
Hierarchical Cluster ◽  
Data Matrix ◽  
Comparative Genomic ◽  
Feature Maps ◽  
Genomic Hybridization ◽  
A Genome ◽  
Self Organizing

Comparative genomic hybridization (CGH) is an established genetic method which enables a genome‐wide survey of chromosomal imbalances. For each chromosome region, one obtains the information whether there is a loss or gain of genetic material, or whether there is no change at that place. Therefore, large amounts of data quickly accumulate which must be put into a logical order. Cluster analysis can be used to assign individual cases (samples) to different clusters of cases, which are similar and where each cluster may be related to a different tumour biology. Another approach consists in a clustering of chromosomal regions by rewriting the original data matrix, where the cases are written as rows and the chromosomal regions as columns, in a transposed form. In this paper we applied hierarchical cluster analysis as well as two implementations of self‐organizing feature maps as classical and neuronal tools for cluster analysis of CGH data from prostatic carcinomas to such transposed data sets. Self‐organizing maps are artificial neural networks with the capability to form clusters on the basis of an unsupervised learning rule. We studied a group of 48 cases of incidental carcinomas, a tumour category which has not been evaluated by CGH before. In addition we studied a group of 50 cases of pT2N0‐tumours and a group of 20 pT3N0‐carcinomas. The results show in all case groups three clusters of chromosomal regions, which are (i) normal or minimally affected by losses and gains, (ii) regions with many losses and few gains and (iii) regions with many gains and few losses. Moreover, for the pT2N0‐ and pT3N0‐groups, it could be shown that the regions 6q, 8p and 13q lay all on the same cluster (associated with losses), and that the regions 9q and 20q belonged to the same cluster (associated with gains). For the incidental cancers such clear correlations could not be demonstrated.

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 Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

2009 ◽  
Vol 18 (2) ◽  
pp. 227-232 ◽  
Author(s):  
Valérie Malan ◽  
Suzanne Chevallier ◽  
Gwendoline Soler ◽  
Christine Coubes ◽  
Didier Lacombe ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
High Frequency ◽  
Copy Number ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Genomic Hybridization

scholarly journals A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

2018 ◽  
Vol 21 (2) ◽  
pp. 63-67
Author(s):  
S Zachaki ◽  
E Kouvidi ◽  
A Mitrakos ◽  
L Lazaros ◽  
A Pantou ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Mendelian Inheritance ◽  
Paracentric Inversion ◽  
Comparative Genomic ◽  
Published Data ◽  
Genomic Hybridization

Abstract A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization (aCGH) revealed that the 20q inversion was not accompanied by microdeletions/microduplications containing disease-associated genes near or at the breakpoints. Two deletions at chromosomal regions 11q14.3q21 and 20q12 of 4.5 and 1.97 Mb size, respectively, containing important online Mendelian inheritance in man (OMIM) genes, were detected. The 4.5Mb 11q14.3q21 microdeletion was contained within a region that is involved, in most of the reported cases, with the interstitial 11q deletion and may be related to the mental retardation and developmental delay present in the patient. On the other hand, the published data about the 20q12 microdeletion are very few and it is not possible to correlate this finding with our patient’s phenotype. This case report contributes to the description of a new chromosomal entity, not previously reported, and is therefore important, especially in prenatal diagnosis and management of patients. Array comparative genomic hybridization has proven a useful technique for detecting submicroscopic rearrangements and should be offered prenatally, especially in cases of de novo karyotypically balanced chromosomal inversions or translocations in order to unveil other unbalanced chromosomal abnormalities such as deletions and amplifications.

Comparative Genomic Hybridization

2001 ◽  
Vol 125 (1) ◽  
pp. 81-84
Author(s):  
Irene J. Barrett ◽  
Brenda L. Lomax ◽  
Tatiana Loukianova ◽  
Steven S. Tang ◽  
Valia S. Lestou ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
Hybridization Analysis ◽  
Comparative Genomic ◽  
Amniotic Fluid Cell ◽  
Comparative Genomic Hybridization Analysis ◽  
Clinical Tool ◽  
Genomic Hybridization ◽  
Maternal Cell ◽  
Fetal Tissues ◽  
A Genome

Abstract Objective.—To demonstrate the effectiveness of comparative genomic hybridization (CGH) for analysis of reproductive pathology specimens in clinical cytogenetics laboratories. Design.—A total of 856 CGH analyses were performed on various placental and fetal tissues derived from 368 specimens of spontaneous abortions and on placentas from 219 pregnancies with live-born infants. The live-born infants were clinically evaluated as normally developed, with either a normal birth weight or with intrauterine growth restriction; some live-born infants had an abnormal prenatal triple screen with normal cytogenetic results on amniotic fluid cell cultures. Results.—Comparative genomic hybridization analysis was successfully performed on 856 samples from spontaneously aborted specimens and term placentas. Failure of analysis occurred in 1.6% of samples and was due to an insufficient amount of tissue for DNA extraction. Comparative genomic hybridization identified aneuploidy in 53% of spontaneous abortion samples and 3.1% of term placentas. Conclusions.—Comparative genomic hybridization analysis is a useful clinical tool for detection of aneuploidy in placental and fetal tissues. It provides a genome-wide screen while eliminating tissue culture failures, culture artifacts, and maternal cell contamination. We present practical guidelines for interpreting CGH profiles derived from human reproductive specimens.

Sign in / Sign up

Export Citation Format

Share Document