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

被引:33
作者
Berg, JN
Walter, JW
Thisanagayam, U
Evans, M
Blei, F
Waner, M
Diamond, AG
Marchuk, DA
Porteous, ME
机构
[1] Guys Hosp, Div Med & Mol Genet, London SE1 9RT, England
[2] Western Gen Hosp, SE Scotland Clin Genet Serv, Edinburgh EH4 2XU, Midlothian, Scotland
[3] Duke Univ, Dept Genet, Durham, NC 27710 USA
[4] Sheffield Childrens Hosp, Dept Pathol, Sheffield, S Yorkshire, England
[5] Univ Arkansas, Med Ctr, Dept Otolaryngol, Little Rock, AR 72205 USA
[6] NYU Ctr, Dept Pediat, New York, NY 10016 USA
[7] NYU Ctr, Dept Plast Surg, New York, NY 10016 USA
[8] Univ Newcastle Upon Tyne, Sch Med, Dept Microbiol & Immunol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
关键词
haemangioma; loss of heterozygosity; chromosome; 5;
D O I
10.1136/jcp.54.3.249
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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.
引用
收藏
页码:249 / 252
页数:4
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