AIM:To study the characteristics of APC(adenomatous polyposis coli)gene germline mutation in Chinese patients with familial adenomatous polyposis(FAP).METHODS:APC gene from 14 FAP families was amplified by polymerase ...AIM:To study the characteristics of APC(adenomatous polyposis coli)gene germline mutation in Chinese patients with familial adenomatous polyposis(FAP).METHODS:APC gene from 14 FAP families was amplified by polymerase chain reaction(PCR)and underwent direct sequencing to determine the micromutation type.For the samples without micromutation,the large fragment deletion of APC gene was examined by multiplex ligation-dependent probe amplification(MLPA).RESULTS:There were gene micromutations in 9 families with a micromutation detection rate of 64.3%(9/14),including 6 frameshift mutations(66.7%),1 nonsense mutation(11.1%)and 2 splicing mutations(22.2%).Large fragment deletions were detected by MLPA in 2 families.The total mutation detection rate of micromutations and large fragment deletions was 78.6%(11/14).CONCLUSION:The detection rate of APC gene germline mutation can be improved by direct sequencing combined with MLPA large fragment deletion detection.展开更多
Ampullary adenoma is a pre-cancerous lesion arising from the duodenal papilla that is often asymptomatic.It is important to distinguish whether the adenoma is sporadic or arises in the setting of familial adenomatous... Ampullary adenoma is a pre-cancerous lesion arising from the duodenal papilla that is often asymptomatic.It is important to distinguish whether the adenoma is sporadic or arises in the setting of familial adenomatous polyposis as this has important implications with respect to management and surveillance.Multiple modalities are available for staging of these lesions to help guide the most appropriate therapy.Those that are used most commonly include computed tomography,endoscopic ultrasound,and endoscopic retrograde cholangiopancreatography.In recent years,endoscopy has become the primary modality for therapeutic management of the majority of ampullary adenomas.Surgery remains the standard curative procedure for confirmed or suspected adenocarcinoma.This review will provide the framework for the diagnosis and management of ampullary adenomas from the perspective of the practicing gastroenterologist.展开更多
The ileal pouch anal anastomosis(IPAA)has revolutionised the surgical management of ulcerative colitis(UC)and familial adenomatous polyposis(FAP).Despite refinement in surgical technique(s)and patient selection,IPAA c...The ileal pouch anal anastomosis(IPAA)has revolutionised the surgical management of ulcerative colitis(UC)and familial adenomatous polyposis(FAP).Despite refinement in surgical technique(s)and patient selection,IPAA can be associated with significant morbidity.As the IPAA celebrated its 40th anniversary in 2018,this review provides a timely outline of its history,indications,and complications.IPAA has undergone significant modification since 1978.For both UC and FAP,IPAA surgery aims to definitively cure disease and prevent malignant degeneration,while providing adequate continence and avoiding a permanent stoma.The majority of patients experience long-term success,but“early”and“late”complications are recognised.Pelvic sepsis is a common early complication with far-reaching consequences of long-term pouch dysfunction,but prompt intervention(either radiological or surgical)reduces the risk of pouch failure.Even in the absence of sepsis,pouch dysfunction is a longterm complication that may have a myriad of causes.Pouchitis is a common cause that remains incompletely understood and difficult to manage at times.10%of patients succumb to the diagnosis of pouch failure,which is traditionally associated with the need for pouch excision.This review provides a timely outline of the history,indications,and complications associated with IPAA.Patient selection remains key,and contraindications exist for this surgery.A structured management plan is vital to the successful management of complications following pouch surgery.展开更多
Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis(FAP). However,adenomas may develop in the ileal pouch mucosa over time,and even carcinoma in the pouch ha...Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis(FAP). However,adenomas may develop in the ileal pouch mucosa over time,and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence,nature,and treatment of adenomas and carcinoma that develop after proctocolectomy in the ileal pouch mucosa in patients with FAP. In 25 reports that were reviewed,the incidence of adenomas in the ileal pouch varied from 6.7% to 73.9%. Several potential factors that favor the development of pouch polyposis have been investigated,but many remain controversial. Nevertheless,it seems certain that the age of the pouch is important. The risk appears to be 7%to 16% after 5 years,35% to 42% after 10 years,and75% after 15 years. On the other hand,only 21 cases of ileal pouch carcinoma have been recorded in the literature to date. The diagnosis of pouch carcinoma was made between 3 to 20 years(median,10 years) after pouch construction. Although the risk of malignant transformation in ileal pouches is probably low,it is not negligible,and the long-term risk cannot presently be well quantified. Regular endoscopic surveillance,especially using chromoendoscopy,is recommended.展开更多
Nonampullary duodenal adenomas are relatively common in familial adenomatous polyposis(FAP), but nonampullary sporadic duodenal adenomas(SDAs)are rare. Emerging evidence shows that duodenal adenomas, regardless of the...Nonampullary duodenal adenomas are relatively common in familial adenomatous polyposis(FAP), but nonampullary sporadic duodenal adenomas(SDAs)are rare. Emerging evidence shows that duodenal adenomas, regardless of their anatomic location and whether they are sporadic or FAP-related, share morphologic and molecular features with colorectal adenomas. The available data suggest that duodenal adenomas develop to duodenal adenocarcinomas via similar mechanisms. The optimal approach for management of duodenal adenomas remains to be determined. The techniques for endoscopic resection of duodenal adenoma include snare polypectomy, endoscopic mucosal resection(EMR), endoscopic submucosal dissection(ESD), and argon plasma coagulation ablation. EMR may facilitate removal of large duodenal polyps. Although several studies have reported cases of successful ESD for duodenal adenomas, the procedure is technically difficult to perform safely because of the anatomical properties of the duodenum. Although current clinical practice recommends endoscopic resection of all large duodenal adenomas in patients with FAP, endoscopic treatment is usually insufficient to guarantee a polypfree duodenum. Surgery is indicated for FAP patients with severe polyposis or nonampullary SDAs or FAPrelated polyps not amenable to endoscopic resection. Further studies are needed to develop newer endoscopic techniques to guide diagnostic and therapeutic decisions for future management of nonampullary duodenal adenomas.展开更多
基金Supported by The National Natural Science Foundation of China,No.30940086
文摘AIM:To study the characteristics of APC(adenomatous polyposis coli)gene germline mutation in Chinese patients with familial adenomatous polyposis(FAP).METHODS:APC gene from 14 FAP families was amplified by polymerase chain reaction(PCR)and underwent direct sequencing to determine the micromutation type.For the samples without micromutation,the large fragment deletion of APC gene was examined by multiplex ligation-dependent probe amplification(MLPA).RESULTS:There were gene micromutations in 9 families with a micromutation detection rate of 64.3%(9/14),including 6 frameshift mutations(66.7%),1 nonsense mutation(11.1%)and 2 splicing mutations(22.2%).Large fragment deletions were detected by MLPA in 2 families.The total mutation detection rate of micromutations and large fragment deletions was 78.6%(11/14).CONCLUSION:The detection rate of APC gene germline mutation can be improved by direct sequencing combined with MLPA large fragment deletion detection.
文摘 Ampullary adenoma is a pre-cancerous lesion arising from the duodenal papilla that is often asymptomatic.It is important to distinguish whether the adenoma is sporadic or arises in the setting of familial adenomatous polyposis as this has important implications with respect to management and surveillance.Multiple modalities are available for staging of these lesions to help guide the most appropriate therapy.Those that are used most commonly include computed tomography,endoscopic ultrasound,and endoscopic retrograde cholangiopancreatography.In recent years,endoscopy has become the primary modality for therapeutic management of the majority of ampullary adenomas.Surgery remains the standard curative procedure for confirmed or suspected adenocarcinoma.This review will provide the framework for the diagnosis and management of ampullary adenomas from the perspective of the practicing gastroenterologist.
基金the Mitchell J.Notaras Fellowship in Colorectal Surgery
文摘The ileal pouch anal anastomosis(IPAA)has revolutionised the surgical management of ulcerative colitis(UC)and familial adenomatous polyposis(FAP).Despite refinement in surgical technique(s)and patient selection,IPAA can be associated with significant morbidity.As the IPAA celebrated its 40th anniversary in 2018,this review provides a timely outline of its history,indications,and complications.IPAA has undergone significant modification since 1978.For both UC and FAP,IPAA surgery aims to definitively cure disease and prevent malignant degeneration,while providing adequate continence and avoiding a permanent stoma.The majority of patients experience long-term success,but“early”and“late”complications are recognised.Pelvic sepsis is a common early complication with far-reaching consequences of long-term pouch dysfunction,but prompt intervention(either radiological or surgical)reduces the risk of pouch failure.Even in the absence of sepsis,pouch dysfunction is a longterm complication that may have a myriad of causes.Pouchitis is a common cause that remains incompletely understood and difficult to manage at times.10%of patients succumb to the diagnosis of pouch failure,which is traditionally associated with the need for pouch excision.This review provides a timely outline of the history,indications,and complications associated with IPAA.Patient selection remains key,and contraindications exist for this surgery.A structured management plan is vital to the successful management of complications following pouch surgery.
文摘Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis(FAP). However,adenomas may develop in the ileal pouch mucosa over time,and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence,nature,and treatment of adenomas and carcinoma that develop after proctocolectomy in the ileal pouch mucosa in patients with FAP. In 25 reports that were reviewed,the incidence of adenomas in the ileal pouch varied from 6.7% to 73.9%. Several potential factors that favor the development of pouch polyposis have been investigated,but many remain controversial. Nevertheless,it seems certain that the age of the pouch is important. The risk appears to be 7%to 16% after 5 years,35% to 42% after 10 years,and75% after 15 years. On the other hand,only 21 cases of ileal pouch carcinoma have been recorded in the literature to date. The diagnosis of pouch carcinoma was made between 3 to 20 years(median,10 years) after pouch construction. Although the risk of malignant transformation in ileal pouches is probably low,it is not negligible,and the long-term risk cannot presently be well quantified. Regular endoscopic surveillance,especially using chromoendoscopy,is recommended.
文摘Nonampullary duodenal adenomas are relatively common in familial adenomatous polyposis(FAP), but nonampullary sporadic duodenal adenomas(SDAs)are rare. Emerging evidence shows that duodenal adenomas, regardless of their anatomic location and whether they are sporadic or FAP-related, share morphologic and molecular features with colorectal adenomas. The available data suggest that duodenal adenomas develop to duodenal adenocarcinomas via similar mechanisms. The optimal approach for management of duodenal adenomas remains to be determined. The techniques for endoscopic resection of duodenal adenoma include snare polypectomy, endoscopic mucosal resection(EMR), endoscopic submucosal dissection(ESD), and argon plasma coagulation ablation. EMR may facilitate removal of large duodenal polyps. Although several studies have reported cases of successful ESD for duodenal adenomas, the procedure is technically difficult to perform safely because of the anatomical properties of the duodenum. Although current clinical practice recommends endoscopic resection of all large duodenal adenomas in patients with FAP, endoscopic treatment is usually insufficient to guarantee a polypfree duodenum. Surgery is indicated for FAP patients with severe polyposis or nonampullary SDAs or FAPrelated polyps not amenable to endoscopic resection. Further studies are needed to develop newer endoscopic techniques to guide diagnostic and therapeutic decisions for future management of nonampullary duodenal adenomas.
