Genetic susceptibility

Familial adenomatous polyposis coli (FAP)

A review of 71 000 appendix specimens revealed 33 benign and 6 malignant appendiceal tumours in patients with familial polyposis coli {324}. Several cases of adenocarcinoma of the appendix have been reported in FAP patients, including a patient with appendiceal

Fig. 5.07 Serrated adenoma (left) and tubulovillous adenoma (right).

adenocarcinoma as the presenting feature {1464}.

Hereditary non-polyposis colorectal cancer (HNPCC)

This familial cancer syndrome confers increased susceptibility to proximal colon cancer {1936}, but it is not yet clear whether there is also an increased risk of appendiceal neoplasms.

Other polyposis syndromes

It is difficult to establish accurately the risk of genetic susceptibility to tumours of the appendix in Peutz-Jeghers and juvenile polyposis syndrome on account of the rarity of these conditions. Intussusception with an 'inside-out' appendix in Peutz-Jeghers syndrome has been reported, caused by a hamartomatous polyp of the appendix or an appendiceal

Fig. 5.08 Adenoma with undulating morphology.

polyp with villous adenomatous changes and focal carcinoma in situ {1243}.

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