[Desmoid tumour as indication of familial adenomatous polyposis].
In two patients, a man aged 43 and a woman aged 40 years, who presented with a desmoid tumour, familial adenomatous polyposis (FAP) was diagnosed three and six years later, respectively. The second patient had developed metastatic rectal cancer. Desmoid-type fibromatoses usually develop sporadically, but may also be an extracolonic manifestation of FAP. All patients with desmoids diagnosed who are under age 60, or with desmoids located intra-abdominally or in the abdominal wall, should be referred for colonic and genetic evaluation. In all further patients with a desmoid tumour, the possibility of FAP should be considered and patient data and the family history should be evaluated thoroughly. If FAP is suspected, patients should be referred for colonoscopic examination and genetic evaluation.
Stichting Opsporing Erfelijke Tumoren, Leids Universitair Medisch Centrum, Afd. Heelkunde, Leiden, the Netherlands. m.nieuwenhuis@stoet.nl
Marry H
MH
Nieuwenhuis
Henk H
HH
Hartgrink
Sybren
S
Meijer
Fred H
FH
Menko
Hans F A
HF
Vasen
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000473:pathology* / Q000601:surgery; D000328:Adult; D003110:Colonic Neoplasms / Q000175:diagnosis / Q000556:secondary / Q000601:surgery; D005260:Female; D018222:Desmoid Tumors / Q000175:diagnosis* / Q000473:pathology* / Q000601:surgery; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009362:Neoplasm Metastasis; D012004:Rectal Neoplasms / Q000175:diagnosis / Q000556:secondary / Q000601:surgery