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A novel 3′ mutation in the APC gene in a family presenting with a desmoid tumour
  1. Diana Ecclesa,
  2. John Harveyb,
  3. Adrian Batemanc,
  4. Fiona Rossb
  1. aWessex Clinical Genetics Service, Princess Ann Hospital, Southampton SO16 5YA, UK, bWessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK, cDepartment of Histopathology, Southampton General Hospital, Southampton, UK
  1. Dr Eccles, de1{at}soton.ac.uk

https://doi.org/10.1136/jmg.38.12.861

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    Editor—Desmoid tumours, also known as infiltrative fibromatoses, are rare benign tumours which often recur after local resection and can cause death through local infiltration of vital structures.1 The estimated incidence in the general population of such tumours is 1-2 per million but in familial adenomatous polyposis (FAP) they occur in up to 15% of cases.2 Likely precipitating factors include trauma and female sex hormones, since females are more often affected than males.3 The majority of desmoid tumours in FAP (over 90%) arise in the mesentery of the bowel or in the abdominal wall musculature. In recent years, several families have been described where the predominant phenotype is of desmoid disease and where the colonic phenotype is minimal.3-6 We describe another such family with a novel protein truncating mutation in the 3′ end of theAPC gene.

    Methods and results

    CLINICAL DETAILS

    The index case presented at 29 years of age with a firm, slightly tender swelling within the right rectus abdominus muscle. A 6 x 5 cm tumour was locally excised and conventional histological examination showed infiltrative fibromatosis. The tumour recurred after six years and was resected again along with 30 cm of adherent small bowel. A year later, a further abdominal wall recurrence was resected and on this occasion fresh tissue was submitted for cytogenetic analysis. Full colonoscopy before referral to the genetics service showed no evidence of colonic adenomas throughout the colon. Repeat colonoscopy after the gene mutation was identified still failed to show any colonic pathology, although contrast dye spray was not undertaken on either occasion. The only relevant family history was that her father had a previous history of a sigmoid colectomy carried out at 56 years of age for a carcinoma of the colon. He had been discharged from …

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