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Journal of Clinical Pathology logoLink to Journal of Clinical Pathology
. 2001 Mar;54(3):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?

J Berg 1, J Walter 1, U Thisanagayam 1, M Evans 1, F Blei 1, M Waner 1, A Diamond 1, D Marchuk 1, M Porteous 1
PMCID: PMC1731365  PMID: 11253142

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.

Key Words: haemangioma • loss of heterozygosity • chromosome 5

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