Abstract：
BACKGROUND: PTEN hamartoma tumour syndrome (PHTS) is a rare hereditary disorder caused by germline pathogenic mutations in the PTEN gene. This study presents a case of PHTS referred for genetic evaluation due to multiple polyps in the rectosigmoid area, and provides a literature review of PHTS case reports published between March 2010 and March 2022.
METHODS: A 39-year-old Iranian female with a family history of gastric cancer in a first-degree relative presented with minimal bright red blood per rectum and resistant dyspepsia. Colonoscopy revealed the presence of over 20 polyps in the rectosigmoid area, while the rest of the colon appeared normal. Further upper endoscopy showed multiple small polyps in the stomach and duodenum, leading to a referral for genetic evaluation of hereditary colorectal polyposis. Whole-exome sequencing led to a PHTS diagnosis, even though the patient displayed no clinical or skin symptoms of the condition. Further screenings identified early-stage breast cancer and benign thyroid nodules through mammography and thyroid ultrasound.
UNASSIGNED: A search of PubMed using the search terms \"Hamartoma syndrome, Multiple\" [Mesh] AND \"case report\" OR \"case series\" yielded 43 case reports, predominantly in women with a median age of 39 years. The literature suggests that patients with PHTS often have a family history of breast, thyroid and endometrial neoplasms along with pathogenic variants in the PTEN/MMAC1 gene. Gastrointestinal polyps are one of the most common signs reported in the literature, and the presence of acral keratosis, trichilemmomas and mucocutaneous papillomas are pathognomonic characteristics of PHTS.
CONCLUSIONS: When a patient presents with more than 20 rectosigmoid polyps, PHTS should be considered. In such cases, it is recommended to conduct further investigations to identify other potential manifestations and the phenotype of PHTS. Women with PHTS should undergo annual mammography and magnetic resonance testing for breast cancer screening from the age of 30, in addition to annual transvaginal ultrasounds and blind suction endometrial biopsies.
METHODS: A 39-year-old Iranian female with a family history of gastric cancer in a first-degree relative presented with minimal bright red blood per rectum and resistant dyspepsia. Colonoscopy revealed the presence of over 20 polyps in the rectosigmoid area, while the rest of the colon appeared normal. Further upper endoscopy showed multiple small polyps in the stomach and duodenum, leading to a referral for genetic evaluation of hereditary colorectal polyposis. Whole-exome sequencing led to a PHTS diagnosis, even though the patient displayed no clinical or skin symptoms of the condition. Further screenings identified early-stage breast cancer and benign thyroid nodules through mammography and thyroid ultrasound.
UNASSIGNED: A search of PubMed using the search terms \"Hamartoma syndrome, Multiple\" [Mesh] AND \"case report\" OR \"case series\" yielded 43 case reports, predominantly in women with a median age of 39 years. The literature suggests that patients with PHTS often have a family history of breast, thyroid and endometrial neoplasms along with pathogenic variants in the PTEN/MMAC1 gene. Gastrointestinal polyps are one of the most common signs reported in the literature, and the presence of acral keratosis, trichilemmomas and mucocutaneous papillomas are pathognomonic characteristics of PHTS.
CONCLUSIONS: When a patient presents with more than 20 rectosigmoid polyps, PHTS should be considered. In such cases, it is recommended to conduct further investigations to identify other potential manifestations and the phenotype of PHTS. Women with PHTS should undergo annual mammography and magnetic resonance testing for breast cancer screening from the age of 30, in addition to annual transvaginal ultrasounds and blind suction endometrial biopsies.
摘要：
背景：PTEN错构瘤综合征（PHTS）是一种罕见的遗传性疾病，由PTEN基因的种系致病突变引起。这项研究提出了一例由于直肠乙状结肠区的多个息肉而进行遗传评估的PHTS病例，并提供了2010年3月至2022年3月期间发表的PHTS病例报告的文献综述.
方法：一名39岁的伊朗女性，有一级亲属的胃癌家族史，每个直肠的血鲜红，有耐药性消化不良。结肠镜检查显示直肠乙状结肠区存在超过20个息肉，而其余的结肠似乎正常。进一步上消化道内镜显示胃和十二指肠多发小息肉，导致遗传性结直肠息肉病的遗传评估转诊。全外显子组测序导致PHTS诊断，即使患者没有表现出临床或皮肤症状。进一步筛查通过乳房X线照相术和甲状腺超声检查确定早期乳腺癌和良性甲状腺结节。
■使用搜索词“错构瘤综合症”搜索PubMed，多个“[网格]和”病例报告或“病例系列”产生43个病例报告，主要发生在中位年龄39岁的女性中。文献表明，患有PHTS的患者通常有乳腺癌家族史，甲状腺和子宫内膜肿瘤以及PTEN/MMAC1基因的致病变异。胃肠道息肉是文献报道的最常见的体征之一，和肢端角化病的存在，毛癣瘤和粘膜皮肤乳头状瘤是PHTS的病理特征。
结论：当患者出现超过20个直肠乙状结肠息肉时，应该考虑PHTS。在这种情况下,建议进行进一步的研究,以确定其他潜在的表现和PHTS的表型.患有PHTS的女性应从30岁开始每年进行乳房X线照相术和磁共振检查，以进行乳腺癌筛查，此外每年进行经阴道超声检查和盲吸子宫内膜活检。
方法：一名39岁的伊朗女性，有一级亲属的胃癌家族史，每个直肠的血鲜红，有耐药性消化不良。结肠镜检查显示直肠乙状结肠区存在超过20个息肉，而其余的结肠似乎正常。进一步上消化道内镜显示胃和十二指肠多发小息肉，导致遗传性结直肠息肉病的遗传评估转诊。全外显子组测序导致PHTS诊断，即使患者没有表现出临床或皮肤症状。进一步筛查通过乳房X线照相术和甲状腺超声检查确定早期乳腺癌和良性甲状腺结节。
■使用搜索词“错构瘤综合症”搜索PubMed，多个“[网格]和”病例报告或“病例系列”产生43个病例报告，主要发生在中位年龄39岁的女性中。文献表明，患有PHTS的患者通常有乳腺癌家族史，甲状腺和子宫内膜肿瘤以及PTEN/MMAC1基因的致病变异。胃肠道息肉是文献报道的最常见的体征之一，和肢端角化病的存在，毛癣瘤和粘膜皮肤乳头状瘤是PHTS的病理特征。
结论：当患者出现超过20个直肠乙状结肠息肉时，应该考虑PHTS。在这种情况下,建议进行进一步的研究,以确定其他潜在的表现和PHTS的表型.患有PHTS的女性应从30岁开始每年进行乳房X线照相术和磁共振检查，以进行乳腺癌筛查，此外每年进行经阴道超声检查和盲吸子宫内膜活检。
