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

被引:32
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
相关论文
共 14 条
  • [1] Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait
    Blei, F
    Walter, J
    Orlow, SJ
    Marchuk, DA
    [J]. ARCHIVES OF DERMATOLOGY, 1998, 134 (06) : 718 - 722
  • [2] EXPRESSION OF RECESSIVE ALLELES BY CHROMOSOMAL MECHANISMS IN RETINOBLASTOMA
    CAVENEE, WK
    DRYJA, TP
    PHILLIPS, RA
    BENEDICT, WF
    GODBOUT, R
    GALLIE, BL
    MURPHREE, AL
    STRONG, LC
    WHITE, RL
    [J]. NATURE, 1983, 305 (5937) : 779 - 784
  • [3] FISHMAN SJ, 1993, PEDIATR CLIN N AM, V40, P1177
  • [4] GOLDBLUM SE, 1994, P NATL ACAD SCI USA, V91, P30448
  • [5] HAHN M, 1995, BIOTECHNIQUES, V18, P1040
  • [6] Hellström M, 1999, DEVELOPMENT, V126, P3047
  • [7] Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
    Karkkainen, MJ
    Ferrell, RE
    Lawrence, EC
    Kimak, MA
    Levinson, KL
    McTigue, MA
    Alitalo, K
    Finegold, DN
    [J]. NATURE GENETICS, 2000, 25 (02) : 153 - 159
  • [8] KAZUE T, 1994, J CLIN INVEST, V93, P2357
  • [9] Magnusson PKE, 1996, BIOTECHNIQUES, V21, P844
  • [10] Nozawa H, 1998, INT J CANCER, V77, P522, DOI 10.1002/(SICI)1097-0215(19980812)77:4<522::AID-IJC8>3.0.CO