Dipartimento di Chirurgia "Pietro Valdoni", Università La Sapienza, Rome, Italy.
Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy; Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101792. doi: 10.1016/j.bpg.2022.101792. Epub 2022 Mar 17.
The PTEN hamartoma tumor syndrome (PHTS) is a heterogeneous set of multisystem disorders caused by germline pathogenic variants in the PTEN tumor suppressor gene. Manifestations include developmental anomalies and proliferative lesions. Evidence of involvement of the GI tract has accrued over time, leading to the incorporation of GI manifestations (multiple hamartomas, glycogenic acanthosis and colorectal cancer) into the diagnostic criteria. Polyps of the upper and lower GI tract are found in most adult patients and in a significant fraction of children. Polyps tend to be of mixed histology, with a predominance of hamartomas and ganglioneuromas. PHTS patients are also at increased risk of colorectal cancer, and surveillance by colonoscopy is advised starting at the age of 35-40 years. A number of additional manifestations, including eosinophilic gastrointestinal disorders, have been observed in few or single cases, and their association with PHTS has yet to be determined.
PTEN 错构瘤肿瘤综合征（PHTS）是一组由 PTEN 肿瘤抑制基因种系致病性变异引起的异质性多系统疾病。临床表现包括发育异常和增生性病变。随着时间的推移，越来越多的证据表明胃肠道受累，导致将胃肠道表现（多发性错构瘤、糖原性棘皮症和结直肠癌）纳入诊断标准。大多数成年患者和相当一部分儿童患者存在上消化道和下消化道息肉。息肉往往具有混合组织学特征，以错构瘤和神经节细胞瘤为主。PHTS 患者也有结直肠癌的高风险，建议从 35-40 岁开始通过结肠镜检查进行监测。还观察到少数或单个病例存在一些其他表现，包括嗜酸性胃肠道疾病，但它们与 PHTS 的关系尚未确定。
