Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review
2014; Baishideng Publishing Group; Volume: 20; Issue: 7 Linguagem: Inglês
10.3748/wjg.v20.i7.1833
ISSN2219-2840
Autores Tópico(s)Genetic factors in colorectal cancer
ResumoAIM:To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten (PTEN ) hamartoma tumor syndrome (PHTS) and to perform a systematic literature review regarding the same. METHODS:This study was approved by the appropriate institutional review board prior to initiation.A clinical genetics database was searched for patients with PHTS or a component syndrome that received gastrointestinal endoscopy or pathology interpretation at our center.These patient's records were retrospectively reviewed for clinical characteristics (including family history and genetic testing), endoscopy results and pathology findings.We also performed a systematic review of the literature for case series of PHTS or component syndromes that reported gastrointestinal manifestations and investigations published after consensus diagnostic criteria were established in 1996.These results were compiled and reported.
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