Abstract
Desmoids are locally aggressive, non-metastasizing soft-tissue tumours, whose aetiology is still unclear. In patients affected with familial adenomatous polyposis (FAP), the incidence of desmoids is much higher than in the general population. The APC gene, which is responsible for FAP, is involved in the development of desmoids associated with this syndrome. In this study 16 sporadic and four FAP-related desmoids were analysed in order to investigate the possible involvement of APC in non-syndromic cases also. The 5' end (exons 1-11) and the coding portion of exon 15 of APC were screened using the in vitro synthesized-protein assay (IVSP). Exons 5, 6, 8-14, and a region of exon 15 spanning codons 1036-1634 were investigated by single-strand conformation polymorphism (SSCP) analysis. APC germline mutations were identified in all FAP patients, but not in sporadic cases. Somatic mutations were found in three FAP-associated desmoids (75%) and two sporadic tumours (12.5%). In one of the latter cases, both alleles were affected. These findings indicate a limited role of the gene in the development of desmoid tumours outside FAP.
Highlights
The APC gene was investigated in the 20 desmoid tumours included in the study by a combination of two methods (Figure 1)
The latter included the mutation cluster region (MCR) of colorectal tumours and the region where all somatic mutations so far reported in familial adenomatous polyposis (FAP)-associated desmoids lie
Mutations were detected in all four cases from FAP patients and in two sporadic tumours (Table 2)
Summary
Patient samplesTwenty consecutive cases of desmoid turnours. surgically treated between October 1992 and January 1995 at the Istituto Nazionale Tumori of Milan, were analysed in this study. Surgically treated between October 1992 and January 1995 at the Istituto Nazionale Tumori of Milan, were analysed in this study. Four were from FAP patients and 16 were from patients without clinical evidence of FAP by endoscopic examination, and with no cases of FAP or desmoids reported among relatives. The samples were frozen in liquid nitrogen immediately after surgery and stored at -80C until use.
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