Abstract
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.
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- Alman B. A., Li C., Pajerski M. E., Diaz-Cano S., Wolfe H. J. Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol. 1997 Aug;151(2):329–334. [PMC free article] [PubMed] [Google Scholar]
- Giarola M., Wells D., Mondini P., Pilotti S., Sala P., Azzarelli A., Bertario L., Pierotti M. A., Delhanty J. D., Radice P. Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. Br J Cancer. 1998 Sep;78(5):582–587. doi: 10.1038/bjc.1998.544. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ilyas M., Tomlinson I. P., Rowan A., Pignatelli M., Bodmer W. F. Beta-catenin mutations in cell lines established from human colorectal cancers. Proc Natl Acad Sci U S A. 1997 Sep 16;94(19):10330–10334. doi: 10.1073/pnas.94.19.10330. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Miyaki M., Konishi M., Kikuchi-Yanoshita R., Enomoto M., Tanaka K., Takahashi H., Muraoka M., Mori T., Konishi F., Iwama T. Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. Cancer Res. 1993 Nov 1;53(21):5079–5082. [PubMed] [Google Scholar]
- Morin P. J., Sparks A. B., Korinek V., Barker N., Clevers H., Vogelstein B., Kinzler K. W. Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Science. 1997 Mar 21;275(5307):1787–1790. doi: 10.1126/science.275.5307.1787. [DOI] [PubMed] [Google Scholar]
- Munemitsu S., Albert I., Souza B., Rubinfeld B., Polakis P. Regulation of intracellular beta-catenin levels by the adenomatous polyposis coli (APC) tumor-suppressor protein. Proc Natl Acad Sci U S A. 1995 Mar 28;92(7):3046–3050. doi: 10.1073/pnas.92.7.3046. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Rubinfeld B., Souza B., Albert I., Müller O., Chamberlain S. H., Masiarz F. R., Munemitsu S., Polakis P. Association of the APC gene product with beta-catenin. Science. 1993 Dec 10;262(5140):1731–1734. doi: 10.1126/science.8259518. [DOI] [PubMed] [Google Scholar]
- Sparks A. B., Morin P. J., Vogelstein B., Kinzler K. W. Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer. Cancer Res. 1998 Mar 15;58(6):1130–1134. [PubMed] [Google Scholar]
- Voeller H. J., Truica C. I., Gelmann E. P. Beta-catenin mutations in human prostate cancer. Cancer Res. 1998 Jun 15;58(12):2520–2523. [PubMed] [Google Scholar]