Letters to the editor
Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1)
| The first 150 words of the full text of this article appear below. |
EDITOR
Familial adenomatous polyposis (FAP) is an
autosomal dominant condition characterised by the presence of more than 100 adenomatous polyps in the colon and rectum. Polyps generally first
appear in the second or third decade of life and are usually most
numerous distally. Left untreated, colorectal cancer is virtually inevitable and generally arises in the fourth or fifth
decade.1 Adenocarcinoma of the appendix is an uncommon
neoplasm and has only rarely been reported in association with
FAP.2
The gene responsible for FAP, APC, was
initially localised to the long arm of chromosome five (5q) by
linkage.3 4 This followed a case report describing
carcinomas of the rectum and ascending colon, adenomatous polyposis,
mental retardation, and various dysmorphic features in a 42 year old
man with a constitutional deletion of 5q.5 Most patients
with FAP have normal karyotypes.6 Mental retardation and
dysmorphic features are unusual in such people but characterise those
rare
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