Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?
- J N Berg*,
- J W Walter*,
- U Thisanagayam,
- M Evans,
- F Blei,
- M Waner,
- A G Diamond,
- D A Marchuk,
- M E Porteous
- Division of Medical and Molecular Genetics, 8th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK
- South-East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK
- Department of Genetics, Duke University, Durham, North Carolina NC27710, USA
- Department of Pathology, Sheffield Children's Hospital, Sheffield, UK
- Department of Otolarygology, University of Arkansas Medical Centre, Little Rock, Arkansas AR72205, USA
- Departments of Pediatrics and Plastic Surgery, New York University Centre, New York NY10016, USA
- Department of Microbiology and Immunology, Medical School, University of Newcastle upon Tyne, Newcastle NE2 4HH, UK
- Dr Berg jonathan.berg{at}kcl.ac.uk
- Accepted 20 September 2000
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.
Footnotes
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↵* Should be considered to have contributed equally to this work
