PTEN Hamartoma Tumour Syndrome: Gastrointestinal Manifestations of Two Cases Diagnosed in Singapore

PTEN hamartoma tumour syndrome is associated with germline mutations in the tumour suppressor gene, PTEN (phosphatase and tensin homolog gene), leading to formation of hamartomas due to unregulated cellular proliferation. Two patients presented with complications of hamartomas, which subsequently revealed multiple polyposis of mixed histologies throughout their gastrointestinal tracts. There was no family history for PTEN hamartoma tumour syndrome and both were eventually detected to have de novo PTEN mutations. Despite fulfilling diagnostic criteria and having high probabilities of a PTEN mutation (computed using PTEN Cleveland Clinic score), there was delayed diagnosis of PTEN hamartoma tumour syndrome due to limited awareness amongst treating clinicians. Thus PTEN hamartoma tumour syndrome should still be considered as a differential in patients with similar gastrointestinal manifestations for early diagnosis and intervention. *Corresponding authors: Dr Joanne Ngeow, National Cancer Centre Singapore, Division of Medical Oncology, 11 Hospital Drive, Singapore 169610, Tel: 65 6436 8172; E-mail: [email protected] Dr Chew Min Hoe, Singapore General Hospital, Department of Colorectal Surgery, 20 College Road, Academia, Singapore 169856, Tel: 65 6321 4677; Fax: 6227 3787; E-mail: [email protected] Received July 26, 2015; Accepted May 18, 2015; Published May 21, 2015 Citation: Chua CS, Loi CTT, Koh PK, Cheah PY, Lee HY, et al. (2015) PTEN Hamartoma Tumour Syndrome: Gastrointestinal Manifestations of Two Cases Diagnosed in Singapore. Hereditary Genet 4: 148. doi:10.4172/2161-1041.1000148 Copyright: © 2015 Chua CS, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.