Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw

被引:25
作者
Idowu, Bernadine D. [1 ,2 ]
Thomas, Garreth [3 ,4 ]
Frow, Richard [3 ]
Diss, Timothy C. [2 ]
Flanagan, Adrienne M. [1 ,2 ,3 ,4 ]
机构
[1] UCL, Inst Orthopaed & Musculoskeletal Sci, Stanmore, Middx, England
[2] Royal Natl Orthopaed Hosp NHS Trust, Stanmore, Middx, England
[3] UCL, Dept Histopathol, London, England
[4] London Queen Marys Univ, London, England
关键词
cherubism; giant cell granuloma of jaw; mutation; SH3BP2;
D O I
10.1016/j.bjoms.2007.04.014
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
Giant cell granulomas of the jaw (GCGJ) are non-familial, generally unilateral osteoclast-rich lesions that are histopathologically indistinguishable from cherubism. Cherubism is an autosomal dominant disease that is characterised by bilateral radiolucencies of the jaw, and caused by mutations that occur in SH3BP2 exon 10. The aim of the study was to screen lesional GCGJ tissue for SH3BP2 mutations. Lesional mononuclear stromal or spindle cells were microdissected from paraffin-embedded tissue from GCGJ, and DNA was then extracted and sequenced for SH3BP2 mutations associated with cherubism. No mutations were detected in 26 GCGJ (15 central, I I peripheral), which indicated that people with GCGJ do not harbour cherubism-related germline SH3BP2 mutations, and that GCGJ do not harbour somatic SH3BP2 mutations. This suggests that cherubism and GCGJ arise on a different genetic background, and therefore detection of SH3BP2 mutations can be a useful means of distinguishing between them. (C) 2007 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.
引用
收藏
页码:229 / 230
页数:2
相关论文
共 10 条
[1]   Clinical and radiological features of central giant-cell lesions of the jaw [J].
de Lange, J ;
van den Akker, HP .
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 2005, 99 (04) :464-470
[2]  
DELANGE J, IN PRESS BR J ORAL M
[3]  
FLANAGAN AM, 1988, CANCER, V62, P1139, DOI 10.1002/1097-0142(19880915)62:6<1139::AID-CNCR2820620617>3.0.CO
[4]  
2-8
[5]   Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism [J].
Jafarov, T ;
Ferimazova, N ;
Reichenberger, E .
CLINICAL GENETICS, 2005, 68 (02) :190-191
[6]  
Mangion J, 2000, J Med Genet, V37, pE37, DOI 10.1136/jmg.37.11.e37
[7]   PTPN11 mutations in Noonan syndrome:: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity [J].
Tartaglia, M ;
Kalidas, K ;
Shaw, A ;
Song, XL ;
Musat, DL ;
van der Burgt, I ;
Brunner, HG ;
Bertola, DR ;
Crosby, A ;
Ion, A ;
Kucherlapati, RS ;
Jeffery, S ;
Patton, MA ;
Gelb, BD .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) :1555-1563
[8]   Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism [J].
Ueki, Y ;
Tiziani, V ;
Santanna, C ;
Fukai, N ;
Maulik, C ;
Garfinkle, J ;
Ninomiya, C ;
doAmaral, C ;
Peters, H ;
Habal, M ;
Rhee-Morris, L ;
Doss, JB ;
Kreiberg, S ;
Olsen, BR ;
Reichenberger, E .
NATURE GENETICS, 2001, 28 (02) :125-126
[9]   Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice [J].
Ueki, Yasuyoshi ;
Lin, Chin-Yu ;
Senoo, Makoto ;
Ebihara, Takeshi ;
Agata, Naoki ;
Onji, Masahiro ;
Saheki, Yasunori ;
Kawai, Toshihisa ;
Mukherjee, Padma M. ;
Reichenberger, Ernst ;
Olsen, Bjorn R. .
CELL, 2007, 128 (01) :71-83
[10]  
VANCAPELLE CI, IN PRESS EUR J PEDIA