J Clin Pathol 54:249-252 doi:10.1136/jcp.54.3.249

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

  1. J N Berg*,
  2. J W Walter*,
  3. U Thisanagayam,
  4. M Evans,
  5. F Blei,
  6. M Waner,
  7. A G Diamond,
  8. D A Marchuk,
  9. M E Porteous
  1. Division of Medical and Molecular Genetics, 8th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK
  2. South-East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK
  3. Department of Genetics, Duke University, Durham, North Carolina NC27710, USA
  4. Department of Pathology, Sheffield Children's Hospital, Sheffield, UK
  5. Department of Otolarygology, University of Arkansas Medical Centre, Little Rock, Arkansas AR72205, USA
  6. Departments of Pediatrics and Plastic Surgery, New York University Centre, New York NY10016, USA
  7. Department of Microbiology and Immunology, Medical School, University of Newcastle upon Tyne, Newcastle NE2 4HH, UK
  1. Dr Berg jonathan.berg{at}
  • Accepted 20 September 2000


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.


  • * Should be considered to have contributed equally to this work