Chromosomal aberrations in primary PDGFRA-mutated gastrointestinal stromal tumors
Schaefer IM, Delfs C, Cameron S, Gunawan B, Agaimy A, Ghadimi BM, Haller F (2014)
Publication Type: Journal article
Publication year: 2014
Journal
Publisher: WB Saunders
Book Volume: 45
Pages Range: 85-97
Journal Issue: 1
DOI: 10.1016/j.humpath.2013.05.027
Abstract
Approximately 15% of gastrointestinal stromal tumors (GISTs) harbor mutations in the platelet-derived growth factor receptor ? (PDGFRA) gene. Chromosomal aberrations play a crucial role in tumor progression and correlate with clinical behavior. Imbalances, particularly in PDGFRA-mutated GISTs, have not yet been evaluated in larger series. We analyzed 53 PDGFRA-mutated GISTs (including 2 with corresponding metastases) for chromosomal imbalances by conventional comparative genomic hybridization and compared them with a historical collective of 122 KIT-mutated GISTs. PDGFRA exon 18 mutations (91% of cases) and exon 12 mutations (9% of cases) correlated significantly with gastric and intestinal sites, respectively. The most common aberrations were identical to those found in KIT-mutated GISTs, with -14q in 70%, -1p in 28%, and -22q in 17% of cases. Overall, there were significantly fewer chromosomal aberrations compared with KIT-mutated GISTs, with a mean of 2.8 (0.6 gains, 2.1 losses) aberrations per tumor. There was a statistically significant association of more than 5 chromosomal imbalances with intermediate/high-risk categories. Regarding specific chromosomal aberrations, -9p, -13q, and -22q correlated with intermediate/high risk, and -1p and +8q with poorer survival, although progression occurred in only 2 cases. Altogether, PDGFRA-mutated GISTs display the same chromosomal aberrations as KIT-mutated GISTs, although they have a lower degree of chromosomal instability in line with their generally favorable outcome.
Involved external institutions
Germany (DE)How to cite
APA:
Schaefer, I.-M., Delfs, C., Cameron, S., Gunawan, B., Agaimy, A., Ghadimi, B.M., & Haller, F. (2014). Chromosomal aberrations in primary PDGFRA-mutated gastrointestinal stromal tumors. Human Pathology, 45(1), 85-97. https://doi.org/10.1016/j.humpath.2013.05.027
MLA:
Schaefer, Inga-Marie, et al. "Chromosomal aberrations in primary PDGFRA-mutated gastrointestinal stromal tumors." Human Pathology 45.1 (2014): 85-97.
BibTeX: Download