Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?
OBJECTIVE
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.
Berg
J N
JN
Division of Medical and Molecular Genetics, Guy's Tower, Guy's Hospital, London, UK. jonathan.berg@kcl.ac.uk
Walter
J W
JW
Thisanagayam
U
U
Evans
M
M
Blei
F
F
Waner
M
M
Diamond
A G
AG
Marchuk
D A
DA
Porteous
M E
ME
D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D006391:Hemangioma / Q000235:genetics*; D006801:Humans; D007223:Infant; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats