Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Berg, JN; Walter, JW; Thisanagayam, U; Evans, M; Blei, F; Waner, M; Diamond, AG; Marchuk, DA; Porteous, ME

Published Date

  • March 2001

Published In

Volume / Issue

  • 54 / 3

Start / End Page

  • 249 - 252

PubMed ID

  • 11253142

Pubmed Central ID

  • PMC1731365

International Standard Serial Number (ISSN)

  • 0021-9746

Digital Object Identifier (DOI)

  • 10.1136/jcp.54.3.249


  • eng

Conference Location

  • England