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

• Published in: Journal of clinical pathology Vol. 54; no. 3; pp. 249 - 252
• Main Authors: Berg, J N, Walter, J W, Thisanagayam, U, Evans, M, Blei, F, Waner, M, Diamond, A G, Marchuk, D A, Porteous, M E
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Association of Clinical Pathologists 01.03.2001; BMJ; BMJ Publishing Group LTD
• Subjects: Apoptosis; Biological and medical sciences; Cell growth; chromosome 5; Chromosomes; Chromosomes, Human, Pair 5 - genetics; Chromosomes, Human, Pair 9 - genetics; Deoxyribonucleic acid; Dermatology; DNA; Female; Fibroblasts; Genes; Genetics; Growth factors; haemangioma; Hemangioma - genetics; Humans; Infant; Loss of Heterozygosity; Male; Medical sciences; Microsatellite Repeats; Mutation; Short Report; Statistical analysis; Tumors of the skin and soft tissue. Premalignant lesions; Human; Cell proliferation; Skin disease; Microdissection; Sporadic; Cardiovascular disease; Chromosome 5; Carcinogenesis; Vascular disease; Somatic mutation; Pathology; Angioma; Loss of heterozygosity; Skin; Benign neoplasm; Molecular biology; Child
• ISSN: 0021-9746; 1472-4146
• DOI: 10.1136/jcp.54.3.249

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.