PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore

Chua Cs Loi Ctt

doi:10.4172/2161-1041.1000148

Abstract

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.

Highlights

PTEN hamartoma tumour syndrome (PHTS) is associated with germline mutations in the tumour suppressor gene, PTEN
PTEN negatively regulates the phosphatidylinositol 3-kinase-AKT and mammalian target of rapamycin signaling pathways, which are critical for cell proliferation, cell cycle progression, and apoptosis
Multiple systems are involved and patients often demonstrate a wide spectrum of manifestations and presentations, including complications of gastrointestinal hamartomas, mucocutaneous abnormalities and an increased cancer risk [2]

Summary

Introduction

PTEN hamartoma tumour syndrome (PHTS) is associated with germline mutations in the tumour suppressor gene, PTEN (phosphatase and tensin homolog gene). Multiple systems are involved and patients often demonstrate a wide spectrum of manifestations and presentations, including complications of gastrointestinal hamartomas, mucocutaneous abnormalities and an increased cancer risk [2]. There was no family history for polyposis syndromes, gastrointestinal or other malignancies.

Results

Conclusion