First Evidence of Genetic Imbalances in Angiofibromas

AbstractObjective/Hypothesis Angiofibromas are clinically well characterized by their origin at the posterior lateral nasal wall close to the sphenopalatine foramen, their occurrence in male adolescent patients, and the histological findings of a benign fibrovascular neoplasm with irregular, endothelium‐lined vascular spaces in a fibrous stroma. However, their etiology and genetic causes remain unknown. The present study addresses genetic imbalances in angiofibromas.Study Design The present pilot study compared genomic hybridization in three angiofibromas to search for chromosomal abnormalities in this rare tumor.Methods Fluorescence‐marked normal DNA and angiofibroma DNA were compared using genomic hybridization screening to detect chromosomal abnormalities. Their binding ratio to metaphase chromosomes were analyzed by special digital image analysis.Results Chromosomal gains and losses showing a high level of agreement were detected in all three angiofibromas. Specifically, DNA gains were observed on chromosomes 3q, 4q, 5q, 6q, 7q, 8q, 12p, 12q, 13q, 14q, 18q, 21q, and X, and DNA losses were screened on chromosomes 17, 19p, 22q, and Y. Finding chromosomal abnormalities at the sex chromosomes X and Y of this rare tumor is remarkable. Concurrent chromosomal gain on 8q12q22 was noted in all three tumor specimens.Conclusions Comparative genomic hybridization is suitable for screening angiofibromas on a genetic level. The results on these screens indicate that further genetic investigations of this rare benign tumor may provide more details about the tumor's genetic abnormalities and perhaps clarify the etiology of angiofibromas.