RT Journal Article
SR Electronic
T1 A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene.
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 695
OP 696
DO 10.1136/jcp.52.9.695
VO 52
IS 9
A1 K Shitoh
A1 F Konishi
A1 T Iijima
A1 T Ohdaira
A1 K Sakai
A1 K Kanazawa
A1 M Miyaki
YR 1999
UL http://jcp.bmj.com/content/52/9/695.abstract
AB A 42 year old man without familial adenomatous polyposis had recurrent desmoid tumours in the left subclavicular site. Histological examination showed a typical desmoid tumour. Molecular analysis was performed in genomic DNA from this tumour, using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and direct sequencing methods. No mutation could be detected in the entire coding sequence of the APC gene, nor in H-ras, K-ras, N-ras, or p53 genes. On seeking a mutation of the beta catenin gene (CTNNB1), an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found. Immunohistochemical staining showed that accumulated beta catenin protein was predominantly localised in the nuclei of desmoid cells. This is the first example of a sporadic desmoid tumour in which a mutation of the beta catenin gene was revealed.