Goals and Background: 

Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS) is an inherited disorder that increases the risk for cancer in multiple organ systems, including breast, endometrial, thyroid, and the gastrointestinal tract. Surveillance is recommended however there lacks data to describe the change in polyposis phenotype and cancer incidence over surveillance. Our aim is to describe the polyposis phenotype and cancer incidence in PHTS patients undergoing endoscopic surveillance.

Study: 

PHTS patients, ages 17 through 89, who underwent at least 2 esophagogastroduodenoscopy (EGDs) or colonoscopies were identified. Number and sizes of polyps were noted, from which 5 categories were recreated. Incidence of colorectal and gastric cancer was evaluated.

Results: 

Seventy patients were included. Patients were clustered and classified into 1 of 5 categories: no polyps, few small polyps (<1 cm, < 10 polyps), few large polyps (≥1 cm, < 10 polyps), many small polyps (<1 cm, ≥10 polyps), many large polyps (≥1 cm, ≥10 polyps). There was no significant difference in polyp number or size on EGD (P=0.47 and 0.83, respectively) or colonoscopy (P=0.49 and 0.10, respectively) over the surveillance period (4.8±3.9 y for stomach and 5.6±4.4 y for colon). The average interval between endoscopies was 28±24 months for EGDs and 29±23 months for colonoscopies. A stage II transverse colon adenocarcinoma and stage IV gastric adenocarcinoma were identified. Standardized incidence rates for gastric and colon cancers were 5427 (P=0.0002) and 353 (P=0.002), respectively.

Conclusions: 

PTHS individuals can be classified into polyposis phenotypes which do not change over an endoscopic surveillance period. Two cancers were associated with a large size polyp phenotype. Surveillance intervals should be determined by polyp size ≥1 cm and pathology.

中文翻译：

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接受监测的 PTEN 错构瘤肿瘤综合征患者的内镜检查结果

目标和背景： 

磷酸酶和张力蛋白同源错构瘤肿瘤综合征 (PHTS) 是一种遗传性疾病，会增加多个器官系统（包括乳腺癌、子宫内膜、甲状腺和胃肠道）患癌症的风险。建议进行监测，但缺乏数据来描述监测中息肉病表型和癌症发病率的变化。我们的目的是描述接受内窥镜监测的 PHTS 患者的息肉病表型和癌症发病率。

学习： 

确定了年龄在 17 岁至 89 岁之间且至少接受过 2 次食管胃十二指肠镜检查 (EGD) 或结肠镜检查的 PHTS 患者。记录息肉的数量和大小，从中重新创建 5 个类别。评估了结直肠癌和胃癌的发病率。

结果： 

其中包括七十名患者。将患者聚类并分为 5 类中的 1 类：无息肉、少数小息肉（<1 cm、< 10 个息肉）、少数大息肉（≥1 cm、< 10 个息肉）、许多小息肉（<1 cm、≥10 个息肉）息肉），许多大息肉（≥1 cm，≥10 个息肉）。在监测期间（胃为 4.8±3.9 年，结肠为 5.6±4.4 年）， EGD（分别为P = 0.47 和 0.83）或结肠镜检查（分别为P = 0.49 和 0.10）息肉数量或大小没有显着差异。）。EGD 内窥镜检查的平均间隔为 28±24 个月，结肠镜检查的平均间隔为 29±23 个月。鉴定为 II 期横结肠腺癌和 IV 期胃腺癌。胃癌和结肠癌的标准化发病率分别为 5427 例 ( P = 0.0002) 和 353 例 ( P = 0.002)。

结论： 

PTHS 个体可分为息肉病表型，在内窥镜监测期内不会发生变化。两种癌症与大尺寸息肉表型相关。监测间隔应根据息肉大小≥1 cm 和病理情况确定。