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

Publication ,  Journal Article
Berg, JN; Walter, JW; Thisanagayam, U; Evans, M; Blei, F; Waner, M; Diamond, AG; Marchuk, DA; Porteous, ME
Published in: J Clin Pathol
March 2001

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.

Duke Scholars

Published In

J Clin Pathol

DOI

ISSN

0021-9746

Publication Date

March 2001

Volume

54

Issue

3

Start / End Page

249 / 252

Location

England

Related Subject Headings

  • Pathology
  • Microsatellite Repeats
  • Male
  • Loss of Heterozygosity
  • Infant
  • Humans
  • Hemangioma
  • Female
  • Chromosomes, Human, Pair 9
  • Chromosomes, Human, Pair 5
 

Citation

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Berg, J. N., Walter, J. W., Thisanagayam, U., Evans, M., Blei, F., Waner, M., … Porteous, M. E. (2001). Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation? J Clin Pathol, 54(3), 249–252. https://doi.org/10.1136/jcp.54.3.249
Berg, J. N., J. W. Walter, U. Thisanagayam, M. Evans, F. Blei, M. Waner, A. G. Diamond, D. A. Marchuk, and M. E. Porteous. “Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?J Clin Pathol 54, no. 3 (March 2001): 249–52. https://doi.org/10.1136/jcp.54.3.249.
Berg JN, Walter JW, Thisanagayam U, Evans M, Blei F, Waner M, et al. Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation? J Clin Pathol. 2001 Mar;54(3):249–52.
Berg, J. N., et al. “Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?J Clin Pathol, vol. 54, no. 3, Mar. 2001, pp. 249–52. Pubmed, doi:10.1136/jcp.54.3.249.
Berg JN, Walter JW, Thisanagayam U, Evans M, Blei F, Waner M, Diamond AG, Marchuk DA, Porteous ME. Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation? J Clin Pathol. 2001 Mar;54(3):249–252.

Published In

J Clin Pathol

DOI

ISSN

0021-9746

Publication Date

March 2001

Volume

54

Issue

3

Start / End Page

249 / 252

Location

England

Related Subject Headings

  • Pathology
  • Microsatellite Repeats
  • Male
  • Loss of Heterozygosity
  • Infant
  • Humans
  • Hemangioma
  • Female
  • Chromosomes, Human, Pair 9
  • Chromosomes, Human, Pair 5