Minimum regions of genomic imbalance in stage I testicular embryonal carcinoma and association of 22q loss with relapse.
Details
Serval ID
serval:BIB_11B0168DABCC
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Minimum regions of genomic imbalance in stage I testicular embryonal carcinoma and association of 22q loss with relapse.
Journal
Genes, chromosomes & cancer
ISSN
1098-2264 (Electronic)
ISSN-L
1045-2257
Publication state
Published
Issued date
03/2011
Peer-reviewed
Oui
Volume
50
Number
3
Pages
186-195
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Abstract
Testicular germ cell tumors (TGCT) are the most frequent solid tumor to affect young adult males and are histologically divided into seminomas and nonseminomas (NS). NS comprise undifferentiated embryonal carcinoma (EC) and differentiated tumors with embryonic (teratoma) or extra-embryonic (choriocarcinoma, yolk sac tumor) features. In contrast to other subtypes, EC have uniform cellular morphology and lack normal cell infiltrates, ideal for nucleic acid profiling. EC are under-represented in previous studies due to their relative rarity. To gain insights into NS tumorigenesis, metastatic dissemination and potential markers of relapse, a full tiling path BAC platform was used to obtain array comparative genomic hybridization (aCGH) profiles from 32 formalin fixed paraffin embedded stage I EC samples from patients with follow-up data. In addition to identifying regions previously described in TGCT, novel minimum overlapping regions of gain at 6p21.33, 10q11.21, and 22q13.32 and loss at 22q12.2 were defined and confirmed by fluorescence in situ hybridization analyses. Specifically, the region at 6p21.33 included OCT3/4, the expression of which is involved in the maintenance of pluripotency and the 10q11.21 region contains the gene encoding the RAS activating factor RASGEF1A, the expression of which was demonstrably increased in RNA extracted from these samples. The region of loss at 22q12.2 was more frequently seen in tumors that relapsed and protein expression of genes from 22q12.2 included PIK3IP1, a negative regulator of PI3 kinase signaling was reduced. These data support the role for genes involved in pluripotency and RAS/PI3K signaling in EC development and progression.
Keywords
Adult, Allelic Imbalance/genetics, Carcinoma, Embryonal/genetics, Carcinoma, Embryonal/pathology, Chromosomes, Human, Pair 10/genetics, Chromosomes, Human, Pair 22/genetics, Comparative Genomic Hybridization, DNA Copy Number Variations/genetics, GTP-Binding Proteins/genetics, GTP-Binding Proteins/metabolism, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genome, Humans, In Situ Hybridization, Fluorescence, Intracellular Signaling Peptides and Proteins, Male, Membrane Proteins/genetics, Membrane Proteins/metabolism, Middle Aged, Recurrence, Testicular Neoplasms/genetics, Testicular Neoplasms/pathology, Young Adult, ras Guanine Nucleotide Exchange Factors/genetics, ras Guanine Nucleotide Exchange Factors/metabolism
Pubmed
Web of science
Create date
26/09/2023 9:53
Last modification date
04/10/2023 14:32