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Appendiceal hamartoma resembling PHTS of soft tissue in a patient with Cowden syndrome
  1. C J R Stewart1,2,
  2. S Salfinger2,
  3. D V Spagnolo3
  1. 1 Department of Histopathology, King Edward Memorial Hospital, Perth,Western Australia, Australia
  2. 2 School for Women's and Infants’ Health, University of Western Australia, Perth, Western Australia, Australia
  3. 3 Division of Anatomical Pathology, PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Perth and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia
  1. Correspondence to Dr Colin Stewart, Department of Histopathology, King Edward Memorial Hospital, Perth, WA 6008, Australia; colin.stewart{at}

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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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  • Contributors Authors CJRS and DVS reviewed and reported upon the histopathology findings. Author SS was the lead clinician involved in patient management and helped to obtain details of the patient's prior history. CJRS drafted the manuscript which was approved by all authors.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Case report—signed consent for publication has been obtained from the patient.

  • Provenance and peer review Not commissioned; internally peer reviewed.