PTEN/MMAC1基因于1997年3月被美国两个独立科研小组同时发现.该基因定位在第10号染色体上,其编码的蛋白质与磷酸酶和细胞质张力蛋白同源,并在许多肿瘤中伴有第10号染色体的同源性丢失,故命名为第10号染色体同源丢失性磷酸酶-张力蛋白基...PTEN/MMAC1基因于1997年3月被美国两个独立科研小组同时发现.该基因定位在第10号染色体上,其编码的蛋白质与磷酸酶和细胞质张力蛋白同源,并在许多肿瘤中伴有第10号染色体的同源性丢失,故命名为第10号染色体同源丢失性磷酸酶-张力蛋白基因(phosphatase and tensin homologydeleted on chromosome ten,Pten)PTEN基因又名MMAC1基因,是因为Steck等发现在许多进展晚期的肿瘤中有该基因的突变,因而命名为多发性进展期癌基因(mutated in multiple advance cancer 1,MMAC1).展开更多
Diffuse intestinal ganglioneuromatosis is a hamartomatous polyposis characterized by a disseminated, intramural or transmural proliferation of neural elements involving the enteric plexuses. It has been associated wit...Diffuse intestinal ganglioneuromatosis is a hamartomatous polyposis characterized by a disseminated, intramural or transmural proliferation of neural elements involving the enteric plexuses. It has been associated with MEN Ⅱ, neurofibromatosis type 1 and hamartomatous polyposis associated with phosphatase and tensin homolog mutation. We report the case of a female patient with a history of a breast and endometrial tumor who presented in a colonoscopy performed for rectal bleeding diffuse ganglioneuromatosis, which oriented the search for other characteristic findings of Cowden syndrome given the personal history of the patient. The presence of an esophagogastric polyposis was also noted. Cowden syndrome is characterized by skin lesions, but it is rarely diagnosed by these lesions, because they are usually overlooked. Intestinal polyposis is not a major diagnostic criterion but it is very useful for early diagnosis. The combination of colonic polyposis and glucogenic acanthosis should orient the diagnosis to Cowden syndrome.展开更多
Cowden syndrome （CS）, an autosomal dominant disorder, is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog （PTEN） gene. Although 70-80% of pa...Cowden syndrome （CS）, an autosomal dominant disorder, is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog （PTEN） gene. Although 70-80% of patients with CS have an identifiable germline PTEN mutation, the clinical diagnosis presents many challenges because of the phenotypic and genotypic variations. In the present study, we sequenced the exons and the promoter of PTEN gene, mutations and variations in the promoter and exons were identified, and a PTEN protein expression negative region was determined by immunohistochemistry （IHC）. In conclusion, a novel promoter mutation we found in PTEN gene may turn off PTEN protein expression occasionally, leading to the disorder of PTEN and untypical CS manifestations.展开更多
Background: Testicular lipomatosis is a very rare and benign disorder of the testicles. It usually presents as multiple bilateral ill-defined hyper-echoic intra-testicular lesions of different sizes but generally with...Background: Testicular lipomatosis is a very rare and benign disorder of the testicles. It usually presents as multiple bilateral ill-defined hyper-echoic intra-testicular lesions of different sizes but generally with maximum 4 mm. Testicular lipomatosis is usually reported in association with Cowden’s syndrome. Aim: We aimed to show that there are cases of testicular lipomatosis occurring in the absence of Cowden’s syndrome. Case Presentation: We present a 28-year-old man with testicular pain, who was finally diagnosed as having isolated testicular lipomatosis without other clinical and biochemical abnormalities using magnetic resonance imaging (MRI) technique. Conclusion: We showed that the testicular lipomatosis may occur and be detected without any evidence of Cowden’s disease.展开更多
<div style="text-align:justify;"> <span style="font-family:Verdana;"><strong>Objective:</strong> To describe the histological and immunohistochemical findings observed when ...<div style="text-align:justify;"> <span style="font-family:Verdana;"><strong>Objective:</strong> To describe the histological and immunohistochemical findings observed when studying a dysplastic cerebellar gangliocytoma observed in a 33-year-old man with a history of Thyroid Cancer. <strong>Material and Methods:</strong> Radiological images (MRI) and histological and immunohistochemical preparations obtained from the cerebellar tissue were received in our laboratory. <strong>Results:</strong> A neoplasm constituted by aberrant-looking mature neurons was observed that showed negativity for the immunohistochemical markers of the PTEN protein, expression of the activity of the PTEN gene. <strong>Conclusions:</strong> Verify the diagnosis of a rare entity, clearly related in scientific publications with Cowden’s Syndrome.</span> </div>展开更多
PURPOSE: PTEN (phosphatase and tensin homologue deleted in chromosome 10) is a candidate tumor suppressor gene. Mutations of this gene are responsible for PTEN hamartoma tumor syndromes, including Cowden syndrome, Ban...PURPOSE: PTEN (phosphatase and tensin homologue deleted in chromosome 10) is a candidate tumor suppressor gene. Mutations of this gene are responsible for PTEN hamartoma tumor syndromes, including Cowden syndrome, Bannayan- Riley- Ruvalcaba syndrome, Proteus syndrome, and Proteus - like syndromes. Recently, PTEN mutations were identified in several human neoplasms. We analyzed the DNA of various organs and lesions in Korean patients with Cowden syndrome, their family members, and patients with familial adenomatous polyposis for germline or somatic PTEN mutations. METHODS: The 11 patients included in this study were 5 patients with Cowden syndrome, 4 of their family members, and 2 patients with familial adenomatous polyposis. Deletions and mutations in exons 1 to 9 of the PTEN gene were evaluated by polymerase chain reaction- single strand conformation polymorphism and sequencing analysis in esophageal acanthosis, gastric polyps, colonic polyps, skin lesions, and peripheral blood mononuclear cells. To exclude common polymorphisms, 240 controls were tested. RESULTS: All patients with Cowden syndrome showed several to numerous polyps in the gastrointestinal tract. A missense mutation at codon 217 (GTC to GAC,Val to Asp) in exon 7 was identified in one Cowden syndrome patient, and a nonsense mutation at codon 211 (TGC to TGA, Cys to stop) in exon 6 was identified in a second patient. Identical mutations were found in all tissue samples, including colonic polyps, from each patient. No PTEN mutations were found in their family members or in any patient with familial adenomatous polyposis. None of tested controls contained a mutation. CONCLUSIONS: We have identified two new germline PTEN mutations in Korean patients with Cowden syndrome. Mutations in the introns and regulatory regions of the PTEN gene may be present in additional patients with Cowden syndrome and polyposis syndrome.展开更多
We report on a paediatric observation of Cowden’ s disease in a 6- year- old child. Familial steroid- resistant nephrotic syndrome was associated to papulous and papillomatous lesions of gingiva and oral mucosa, mult...We report on a paediatric observation of Cowden’ s disease in a 6- year- old child. Familial steroid- resistant nephrotic syndrome was associated to papulous and papillomatous lesions of gingiva and oral mucosa, multiple hamartoma of the back and of upper limbs, facial dysmorphism and follicular thyroid cancer. Thyroid cancer evolved favorably after surgical treatment, radioactive iodine and L- thyroxin supplementation. Nephrotic syndrome evolved to chronic renal insufficiency after 11 years. The early diagnosis of Cowden’ s disease, or multiple hamartoma syndrome, allows a careful monitoring of the patients who are facing the risk of cancer transformation, which is the principal complication of the condition.展开更多
Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been...Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been reported to be complicated by malignant tumors. Based on the criteria of the International Cowden Consortium, this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis. However, Cowden's disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis. We report a case of Cowden's disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy. Clinically, the patient was aware of having bloody stools. Multiple polyps found endoscopically in the esophagus, stomach, ileum, colon and rectum showed histopathologically hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis and facial trichilemmomas. A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene was found in this case. It was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon). The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden's disease. It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden's disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease.展开更多
A 21-year-old woman with complaints of hematochezia was diagnosed as having Cowden's disease (CD), an autosomal dominant condition characterized by multiple hamartomas, since facial papules and gingival papillomas...A 21-year-old woman with complaints of hematochezia was diagnosed as having Cowden's disease (CD), an autosomal dominant condition characterized by multiple hamartomas, since facial papules and gingival papillomas were identified. On endoscopy, multiple hyperplastic polyps were seen in the rectum and left-side colon. There were also esophageal glycogenic acanthosis and hyperplastic polyposis in the antrum accompanied by Helicobacter pylorirelated gastritis. Although gastric hyperplastic polyposis had by no means regressed with unsuccessful first-line eradication therapy for H pylori, following cure of the infection with salvage therapy consisting of rabeprazole,amoxicillin and metronidazole, the polyposis lesions almost disappeared. Follow-up gastroscopy 2 and 3 years after cessation of the second-line eradication therapy revealed almost complete regression of the polyposis lesions with no evidence of H pylori infection. We recommend eradication treatment for CD patients with gastric hyperplastic polyps and the infection, as the occurrence of gastric carcinoma among hyperplastic polyps has been described.展开更多
Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomas in a variety of tissues and this is associated with germline mutations in the phosphatase and tensin homologue (PTEN) ...Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomas in a variety of tissues and this is associated with germline mutations in the phosphatase and tensin homologue (PTEN) gene, which is the tumor suppressor gene located on chromosome 10q23.3. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal (GI) tract, bones, central nervous system, eyes, and genitourinary tract. Cowden syndrome does not have increased risk of GI malignancy; however, it has an increased risk of breast, thyroid and endometrial cancer development. Herethe authors report a rare case of Cowden syndrome incidentally diagnosed from multiple gastric polyposis. A 29-year-old woman presented with multiple gastric polyps. The laboratory results were normal except for mild anemia, with a hemoglobin level of 11.9 g/dL. Esophagogastroduodenoscopy revealed multiple gastric, duodenal polyps and esophageal acanthosis. Colonoscopy revealed possible hamartomatous polyps in the rectum. Under the suspicion of Cowden syndrome, sonography of the thyroid and breasts was carried out, which revealed multiple thyroid masses. Subsequent fine-needle aspiration biopsy revealed the presence of clusters of follicular epithelial cells, and due to the possibility of malignancy, the patient underwent total thyroidectomy. The pathology was reported as invasive follicular carcinoma. A gene study by direct sequencing showed the presence of a PTEN mutation (c.633C > A /p.Cys211*).展开更多
10号染色体上磷酸酶和张力蛋白同源物(phosphatase and tensin-homolog deleted on chromosome 10,PTEN)是重要的抑癌基因,其突变可引发PTEN错构瘤肿瘤综合征(PTEN hamartoma tumor syndrome,PHTS),常被称为Cowden综合征,是较为罕见的...10号染色体上磷酸酶和张力蛋白同源物(phosphatase and tensin-homolog deleted on chromosome 10,PTEN)是重要的抑癌基因,其突变可引发PTEN错构瘤肿瘤综合征(PTEN hamartoma tumor syndrome,PHTS),常被称为Cowden综合征,是较为罕见的遗传性肿瘤综合征,其与早发性、多发性乳腺癌高度相关。本文报道3例PTEN基因突变相关单侧多中心乳腺癌及同时性、异时性双侧乳腺癌患者,并总结其临床表现、病理特征、诊治经验及随访情况,旨在为临床医生更好地诊治PTEN基因突变相关乳腺癌及Cowden综合征人群提供借鉴。展开更多
目的总结1例儿童Cowden综合征临床及基因突变特征并进行文献复习。方法回顾性分析2020年6月新乡医学院第一附属医院收治的1例Cowden综合征患儿临床资料,并以"Cowden综合征"、"PTEN基因"、"错构瘤息肉"、&...目的总结1例儿童Cowden综合征临床及基因突变特征并进行文献复习。方法回顾性分析2020年6月新乡医学院第一附属医院收治的1例Cowden综合征患儿临床资料,并以"Cowden综合征"、"PTEN基因"、"错构瘤息肉"、"儿童"、"Cowden syndrome and child"、"PTEN and child"为检索词,检索建库至2021年3月中文数据库(中国知网数据库、万方数据库)及PubMed数据库进行文献复习。结果患儿,男,13岁,间断腹痛、腹胀5个月就诊,儿童电子显微胃肠镜检查提示多发息肉,息肉组织活检见灶状淋巴细胞聚集浸润。全外显子测序发现患儿PTEN基因存在c.475(exon5)A>T杂合核苷酸变异,该变异导致第159号氨基酸由精氨酸变为色氨酸,通过蛋白三级结构预测发现该变异可能影响蛋白的空间结构,可能导致蛋白功能受到损害.结合患儿临床特点,确诊为Cowden综合征。家系验证变异遗传自母亲,母亲有类似表型。检索符合条件的中文文献0篇,与PTEN突变有关的41篇儿童病例报道的英文文献中,仅2篇报道与儿童Cowden综合征有关,该变异未见报道。结论本研究发现导致Cowden综合征的新的PTEN基因c.475(exon5)A>T突变位点,为国内首例儿童Cowden综合征病例报道。展开更多
文摘PTEN/MMAC1基因于1997年3月被美国两个独立科研小组同时发现.该基因定位在第10号染色体上,其编码的蛋白质与磷酸酶和细胞质张力蛋白同源,并在许多肿瘤中伴有第10号染色体的同源性丢失,故命名为第10号染色体同源丢失性磷酸酶-张力蛋白基因(phosphatase and tensin homologydeleted on chromosome ten,Pten)PTEN基因又名MMAC1基因,是因为Steck等发现在许多进展晚期的肿瘤中有该基因的突变,因而命名为多发性进展期癌基因(mutated in multiple advance cancer 1,MMAC1).
文摘Diffuse intestinal ganglioneuromatosis is a hamartomatous polyposis characterized by a disseminated, intramural or transmural proliferation of neural elements involving the enteric plexuses. It has been associated with MEN Ⅱ, neurofibromatosis type 1 and hamartomatous polyposis associated with phosphatase and tensin homolog mutation. We report the case of a female patient with a history of a breast and endometrial tumor who presented in a colonoscopy performed for rectal bleeding diffuse ganglioneuromatosis, which oriented the search for other characteristic findings of Cowden syndrome given the personal history of the patient. The presence of an esophagogastric polyposis was also noted. Cowden syndrome is characterized by skin lesions, but it is rarely diagnosed by these lesions, because they are usually overlooked. Intestinal polyposis is not a major diagnostic criterion but it is very useful for early diagnosis. The combination of colonic polyposis and glucogenic acanthosis should orient the diagnosis to Cowden syndrome.
基金supported by National Natural Science Foundation of China (30970623)International Science and Technology Cooperation Projects (2010DFA31840 and 2010DFB33720)Beijing Natural Science Foundation(5112030)
文摘Cowden syndrome （CS）, an autosomal dominant disorder, is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog （PTEN） gene. Although 70-80% of patients with CS have an identifiable germline PTEN mutation, the clinical diagnosis presents many challenges because of the phenotypic and genotypic variations. In the present study, we sequenced the exons and the promoter of PTEN gene, mutations and variations in the promoter and exons were identified, and a PTEN protein expression negative region was determined by immunohistochemistry （IHC）. In conclusion, a novel promoter mutation we found in PTEN gene may turn off PTEN protein expression occasionally, leading to the disorder of PTEN and untypical CS manifestations.
文摘Background: Testicular lipomatosis is a very rare and benign disorder of the testicles. It usually presents as multiple bilateral ill-defined hyper-echoic intra-testicular lesions of different sizes but generally with maximum 4 mm. Testicular lipomatosis is usually reported in association with Cowden’s syndrome. Aim: We aimed to show that there are cases of testicular lipomatosis occurring in the absence of Cowden’s syndrome. Case Presentation: We present a 28-year-old man with testicular pain, who was finally diagnosed as having isolated testicular lipomatosis without other clinical and biochemical abnormalities using magnetic resonance imaging (MRI) technique. Conclusion: We showed that the testicular lipomatosis may occur and be detected without any evidence of Cowden’s disease.
文摘<div style="text-align:justify;"> <span style="font-family:Verdana;"><strong>Objective:</strong> To describe the histological and immunohistochemical findings observed when studying a dysplastic cerebellar gangliocytoma observed in a 33-year-old man with a history of Thyroid Cancer. <strong>Material and Methods:</strong> Radiological images (MRI) and histological and immunohistochemical preparations obtained from the cerebellar tissue were received in our laboratory. <strong>Results:</strong> A neoplasm constituted by aberrant-looking mature neurons was observed that showed negativity for the immunohistochemical markers of the PTEN protein, expression of the activity of the PTEN gene. <strong>Conclusions:</strong> Verify the diagnosis of a rare entity, clearly related in scientific publications with Cowden’s Syndrome.</span> </div>
文摘PURPOSE: PTEN (phosphatase and tensin homologue deleted in chromosome 10) is a candidate tumor suppressor gene. Mutations of this gene are responsible for PTEN hamartoma tumor syndromes, including Cowden syndrome, Bannayan- Riley- Ruvalcaba syndrome, Proteus syndrome, and Proteus - like syndromes. Recently, PTEN mutations were identified in several human neoplasms. We analyzed the DNA of various organs and lesions in Korean patients with Cowden syndrome, their family members, and patients with familial adenomatous polyposis for germline or somatic PTEN mutations. METHODS: The 11 patients included in this study were 5 patients with Cowden syndrome, 4 of their family members, and 2 patients with familial adenomatous polyposis. Deletions and mutations in exons 1 to 9 of the PTEN gene were evaluated by polymerase chain reaction- single strand conformation polymorphism and sequencing analysis in esophageal acanthosis, gastric polyps, colonic polyps, skin lesions, and peripheral blood mononuclear cells. To exclude common polymorphisms, 240 controls were tested. RESULTS: All patients with Cowden syndrome showed several to numerous polyps in the gastrointestinal tract. A missense mutation at codon 217 (GTC to GAC,Val to Asp) in exon 7 was identified in one Cowden syndrome patient, and a nonsense mutation at codon 211 (TGC to TGA, Cys to stop) in exon 6 was identified in a second patient. Identical mutations were found in all tissue samples, including colonic polyps, from each patient. No PTEN mutations were found in their family members or in any patient with familial adenomatous polyposis. None of tested controls contained a mutation. CONCLUSIONS: We have identified two new germline PTEN mutations in Korean patients with Cowden syndrome. Mutations in the introns and regulatory regions of the PTEN gene may be present in additional patients with Cowden syndrome and polyposis syndrome.
文摘We report on a paediatric observation of Cowden’ s disease in a 6- year- old child. Familial steroid- resistant nephrotic syndrome was associated to papulous and papillomatous lesions of gingiva and oral mucosa, multiple hamartoma of the back and of upper limbs, facial dysmorphism and follicular thyroid cancer. Thyroid cancer evolved favorably after surgical treatment, radioactive iodine and L- thyroxin supplementation. Nephrotic syndrome evolved to chronic renal insufficiency after 11 years. The early diagnosis of Cowden’ s disease, or multiple hamartoma syndrome, allows a careful monitoring of the patients who are facing the risk of cancer transformation, which is the principal complication of the condition.
文摘Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been reported to be complicated by malignant tumors. Based on the criteria of the International Cowden Consortium, this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis. However, Cowden's disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis. We report a case of Cowden's disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy. Clinically, the patient was aware of having bloody stools. Multiple polyps found endoscopically in the esophagus, stomach, ileum, colon and rectum showed histopathologically hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis and facial trichilemmomas. A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene was found in this case. It was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon). The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden's disease. It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden's disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease.
文摘A 21-year-old woman with complaints of hematochezia was diagnosed as having Cowden's disease (CD), an autosomal dominant condition characterized by multiple hamartomas, since facial papules and gingival papillomas were identified. On endoscopy, multiple hyperplastic polyps were seen in the rectum and left-side colon. There were also esophageal glycogenic acanthosis and hyperplastic polyposis in the antrum accompanied by Helicobacter pylorirelated gastritis. Although gastric hyperplastic polyposis had by no means regressed with unsuccessful first-line eradication therapy for H pylori, following cure of the infection with salvage therapy consisting of rabeprazole,amoxicillin and metronidazole, the polyposis lesions almost disappeared. Follow-up gastroscopy 2 and 3 years after cessation of the second-line eradication therapy revealed almost complete regression of the polyposis lesions with no evidence of H pylori infection. We recommend eradication treatment for CD patients with gastric hyperplastic polyps and the infection, as the occurrence of gastric carcinoma among hyperplastic polyps has been described.
文摘Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomas in a variety of tissues and this is associated with germline mutations in the phosphatase and tensin homologue (PTEN) gene, which is the tumor suppressor gene located on chromosome 10q23.3. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal (GI) tract, bones, central nervous system, eyes, and genitourinary tract. Cowden syndrome does not have increased risk of GI malignancy; however, it has an increased risk of breast, thyroid and endometrial cancer development. Herethe authors report a rare case of Cowden syndrome incidentally diagnosed from multiple gastric polyposis. A 29-year-old woman presented with multiple gastric polyps. The laboratory results were normal except for mild anemia, with a hemoglobin level of 11.9 g/dL. Esophagogastroduodenoscopy revealed multiple gastric, duodenal polyps and esophageal acanthosis. Colonoscopy revealed possible hamartomatous polyps in the rectum. Under the suspicion of Cowden syndrome, sonography of the thyroid and breasts was carried out, which revealed multiple thyroid masses. Subsequent fine-needle aspiration biopsy revealed the presence of clusters of follicular epithelial cells, and due to the possibility of malignancy, the patient underwent total thyroidectomy. The pathology was reported as invasive follicular carcinoma. A gene study by direct sequencing showed the presence of a PTEN mutation (c.633C > A /p.Cys211*).
文摘10号染色体上磷酸酶和张力蛋白同源物(phosphatase and tensin-homolog deleted on chromosome 10,PTEN)是重要的抑癌基因,其突变可引发PTEN错构瘤肿瘤综合征(PTEN hamartoma tumor syndrome,PHTS),常被称为Cowden综合征,是较为罕见的遗传性肿瘤综合征,其与早发性、多发性乳腺癌高度相关。本文报道3例PTEN基因突变相关单侧多中心乳腺癌及同时性、异时性双侧乳腺癌患者,并总结其临床表现、病理特征、诊治经验及随访情况,旨在为临床医生更好地诊治PTEN基因突变相关乳腺癌及Cowden综合征人群提供借鉴。
文摘目的总结1例儿童Cowden综合征临床及基因突变特征并进行文献复习。方法回顾性分析2020年6月新乡医学院第一附属医院收治的1例Cowden综合征患儿临床资料,并以"Cowden综合征"、"PTEN基因"、"错构瘤息肉"、"儿童"、"Cowden syndrome and child"、"PTEN and child"为检索词,检索建库至2021年3月中文数据库(中国知网数据库、万方数据库)及PubMed数据库进行文献复习。结果患儿,男,13岁,间断腹痛、腹胀5个月就诊,儿童电子显微胃肠镜检查提示多发息肉,息肉组织活检见灶状淋巴细胞聚集浸润。全外显子测序发现患儿PTEN基因存在c.475(exon5)A>T杂合核苷酸变异,该变异导致第159号氨基酸由精氨酸变为色氨酸,通过蛋白三级结构预测发现该变异可能影响蛋白的空间结构,可能导致蛋白功能受到损害.结合患儿临床特点,确诊为Cowden综合征。家系验证变异遗传自母亲,母亲有类似表型。检索符合条件的中文文献0篇,与PTEN突变有关的41篇儿童病例报道的英文文献中,仅2篇报道与儿童Cowden综合征有关,该变异未见报道。结论本研究发现导致Cowden综合征的新的PTEN基因c.475(exon5)A>T突变位点,为国内首例儿童Cowden综合征病例报道。
