Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?. Issue 3 (1st March 2001)

• Record Type: Journal Article
• Authors: Berg, J N; Walter, J W; Thisanagayam, U; Evans, M; Blei, F; Waner, M; Diamond, A G; Marchuk, D A; Porteous, M E
• Is Part Of: Journal of clinical pathology. Volume 54:Issue 3(2001)
• Page Start: 249
• Page End: 252
• Publication Date: 2001-03-01
• Subjects: haemangioma -- loss of heterozygosity -- chromosome 5; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jcp.54.3.249
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : Background/Aims —Haemangiomas are common benign tumours of infancy that consist of rapidly proliferating endothelial cells. A locus for an autosomal dominant predisposition to haemangioma has been identified recently on chromosome 5q. This study aimed to investigate loss of heterozygosity on chromosomes 5 and 9 in haemangiomas. Methods —Sporadic proliferative phase haemangiomas were microdissected. Polymerase chain reaction amplification and analysis of microsatellite markers on chromosomes 5 and 9 was carried out. Results —There was a significant loss of heterozygosity for markers on chromosome 5q in haemangioma tissue, when compared with either markers from chromosome 5p (p < 0.05) or markers from chromosome 9 (p < 0.05). Conclusions —These results suggest that haemangioma formation might be associated with somatic mutational events, and provides evidence that a locus on 5q is involved in the formation of sporadic haemangiomas.