Array comparative genomic hybridization-based characterization of genetic alterations in pulmonary neuroendocrine tumors

Introduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.Material and Methods: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements.Results: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant.Discussion: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents.Conclusion: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence.

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Array comparative genomic hybridization characterization of multiple interstitial deletions involving 7p22.1, 7q11.23, 7q21.3-q22.1, 19p13.3-p12, and 19q13.11-q13.43 in a fetus associated with split hand–foot malformation. Role of EPS15L1 in pathogenesis

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2014.12.009 ◽

2015 ◽

Vol 54 (4) ◽

pp. 455-458 ◽

Cited By ~ 2

Author(s):

Ya-Lien Hsueh ◽

Yi-Ning Su ◽

Hsin-Yu Lin ◽

Chien-Nan Lee ◽

Jin-Chung Shih

Keyword(s):

Comparative Genomic Hybridization ◽

Array Comparative Genomic Hybridization ◽

Comparative Genomic ◽

Genomic Hybridization

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Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization

Journal of Molecular Diagnostics ◽

10.1016/j.jmoldx.2015.07.011 ◽

2016 ◽

Vol 18 (1) ◽

pp. 92-99 ◽

Cited By ~ 7

Author(s):

Daniel E. Sabath ◽

Michael A. Bender ◽

Vijay G. Sankaran ◽

Esther Vamos ◽

Alex Kentsis ◽

...

Keyword(s):

Comparative Genomic Hybridization ◽

Array Comparative Genomic Hybridization ◽

Comparative Genomic ◽

Genomic Hybridization

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Genomic Profiling by Array Comparative Genomic Hybridization Reveals Novel DNA Copy Number Changes in Breast Phyllodes Tumours

Analytical Cellular Pathology ◽

10.1155/2009/410672 ◽

2009 ◽

Vol 31 (1) ◽

pp. 31-39

Author(s):

Arno Kuijper ◽

Antoine M. Snijders ◽

Els M. J. J. Berns ◽

Vibeke Kuenen-Boumeester ◽

Elsken van der Wall ◽

...

Keyword(s):

Comparative Genomic Hybridization ◽

Copy Number ◽

Array Comparative Genomic Hybridization ◽

Copy Number Change ◽

Genetic Alterations ◽

Comparative Genomic ◽

Genomic Profiling ◽

Genomic Hybridization ◽

Dna Copy Number ◽

Copy Number Changes

Breast phyllodes tumour (PT) is a rare fibroepithelial tumour. The genetic alterations contributing to its tumorigenesis are largely unknown. To identify genomic regions involved in pathogenesis and progression of PTs we obtained genome-wide copy number profiles by array comparative genomic hybridization (CGH).DNA was isolated from fresh-frozen tissue samples. 11 PTs and 3 fibroadenomas, a frequently occurring fibroepithelial breast tumour, were analyzed. Arrays composed of 2464 genomic clones were used, providing a resolution of ~1.4 Mb across the genome. Each clone contains at least one STS for linkage to the human genome sequence.No copy number changes were detected in fibroadenomas. On the other hand, 10 of 11 PT (91%) showed DNA copy number alterations. The mean number of chromosomal events in PT was 5.5 (range 0–16) per case. A mean of 2.0 gains (range 0–10) and 3.0 losses (range 0–9) was seen per case of PT. Three cases showed amplifications. DNA copy number change was not related to PT grade. We observed recurrent loss on chromosome 1q, 4p, 10, 13q, 15q, 16, 17p, 19 and X. Recurrent copy number gain was seen on 1q, 2p, 3q, 7p, 8q, 16q, 20.In this study we used array CGH for genomic profiling of fibroepithelial breast tumours. Whereas most PT showed chromosomal instability, fibroadenomas lacked copy number changes. Some copy number aberrations had not previously been associated with PT. Several well-known cancer related genes, such as TP53 and members of the Cadherin, reside within the recurrent regions of copy number alteration. Since copy number change was found in all benign PT, genomic instability may be an early event in PT genesis.

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