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The phosphatase and tensin homologue on chromosome ten (PTEN) is one of the most commonly inactivated tumour suppressors in human neoplasia.1 PTEN inactivation can result from somatic mutation or can be a consequence of epigenetic events including promoter methylation. Rarely, germline mutations in PTEN occur and these are associated with a spectrum of clinical disorders that include hamartomatous and neoplastic proliferations in a variety of organs which, collectively, are designated the PTEN hamartoma and tumour syndromes (PHTS).2 Cowden syndrome is the best characterised PHTS and is associated with increased risk of thyroid, endometrial and breast carcinoma.3 The molecular basis of PHTS reflects the physiological role of PTEN protein as an important cell-cycle regulator acting notably, but not exclusively, through the PI3K-AKT-mammalian target of rapamycin (mTOR) signalling pathway.1 ,2
The histological features of PHTS-associated soft tissue hamartomas have been elucidated recently.4 These lesions are characterised by disordered proliferations of smooth muscle, fat and neuronal elements in varying proportion, together with angiomatous or arteriovenous malformation-like vascular lesions. To our knowledge non-polypoid hamartomatous lesions resembling those seen in soft tissue have not been described previously in the gastrointestinal tract. Herein, we report a case of PHTS-associated hamartoma involving the appendix …
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