Literature DB >> 11253142

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

J N Berg1, J W Walter, U Thisanagayam, M Evans, F Blei, M Waner, A G Diamond, D A Marchuk, M E Porteous.   

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.

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Year:  2001        PMID: 11253142      PMCID: PMC1731365          DOI: 10.1136/jcp.54.3.249

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN: 0021-9746            Impact factor:   3.411


  6 in total

Review 1.  Pathogenesis of hemangioma.

Authors:  D A Marchuk
Journal:  J Clin Invest       Date:  2001-03       Impact factor: 14.808

2.  Urinary matrix metalloproteinases-2/9 in healthy infants and haemangioma patients prior to and during propranolol therapy.

Authors:  C J Kleber; A Spiess; J B Kleber; U Hinz; S Holland-Cunz; J Weiss
Journal:  Eur J Pediatr       Date:  2011-12-28       Impact factor: 3.183

3.  Identification of signaling systems in proliferating and involuting phase infantile hemangiomas by genome-wide transcriptional profiling.

Authors:  Monica L Calicchio; Tucker Collins; Harry P Kozakewich
Journal:  Am J Pathol       Date:  2009-04-06       Impact factor: 4.307

4.  Adult neck hemangiolymphangioma: a case and review of its etiology, diagnosis and management.

Authors:  Tyler Murphy; Daryl Ramai; Jonathan Lai; Kiyoe Sullivan; Cecil Grimes
Journal:  J Surg Case Rep       Date:  2017-08-31

Review 5.  Modeling human endothelial cell transformation in vascular neoplasias.

Authors:  Victoria W Wen; Karen L MacKenzie
Journal:  Dis Model Mech       Date:  2013-09       Impact factor: 5.758

6.  A 71-year-old female with an intrasellar mass.

Authors:  Yanli Du; Taili Li; Hui Qi; Zongli Han
Journal:  Brain Pathol       Date:  2021-06-21       Impact factor: 6.508

  6 in total

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