BACKGROUND Complications arising from the polyps in Peutz-Jeghers syndrome(PJS)have historically been addressed through surgical treatment.Enteroscopic poly-pectomy is hypothesized to reduce the risk of surgery in PJS...BACKGROUND Complications arising from the polyps in Peutz-Jeghers syndrome(PJS)have historically been addressed through surgical treatment.Enteroscopic poly-pectomy is hypothesized to reduce the risk of surgery in PJS.However,the optimal timing for polyp screening and preventive intervention using entero-scopic polypectomy remains uncertain.This is primarily due to the extremely low incidence of the condition and the paucity of data regarding the natural risk of requiring surgery and its age distribution in PJS patients.In order to develop recommendations on the appropriate timing of polyp screening and preventive intervention in PJS,a comprehensive understanding of the natural surgical risks AIM To investigate the natural surgical risks associated with polyps in PJS and to clarify their age distribution.METHODS A web-based open survey was launched to collect information from Chinese individuals suspected of having PJS.The questionnaire was distributed to the PJS instant messaging groups using a quick response code method.The data were analyzed using descriptive statistical methods,and the cumulative incidence of surgery was calculated using the Kaplan-Meier method.RESULTS Of the 442 patients enrolled,301(68.10%)had undergone 506 surgical procedures prior to enteroscopy or the survey deadline.Among the 506 surgical procedures,388(76.68%)were performed on patients aged between 6 and 25 years.The cumulative incidence rates of the first surgical procedure at 5,10,15,20,25,and 30 years of age were 5.0%(95%confidence interval[CI]:2.9%-7.0%),20.6%(95%CI:16.6%-24.4%),40.5%(95%CI:35.5%-45.1%),58.0%(95%CI:52.7%-62.7%),72.6%(95%CI:67.3%-77.0%),and 82.4%(95%CI:77.0%-86.5%),respectively.The primary indications for the first surgical procedures were intussusception(81.40%),obstruction(13.95%),and gas-trointestinal bleeding(4.65%).The cumulative incidence rates of requiring a second surgical procedure within 1,3,5,10 and 15 years following the first surgical procedure were 3.7%(95%CI:1.5%-5.8%),12.5%(95%CI:8.6%-16.2%),20.3%(95%CI:15.6%-24.8%),37.0%(95%CI:33.1%-45.3%),54.2%(95%CI:46.8%-60.5%),respectively.Patients who underwent their first surgical procedure at the age of nine years or younger presented an elevated risk of requiring a second surgical procedure(P<0.01).CONCLUSION Chinese patients with PJS have a high natural risk of undergoing surgery.Without preventive intervention,these procedures may become necessary at an early age and may be repeated.Early screening and regular surveillance,with preventive intervention if necessary,should commence at six years of age.展开更多
BACKGROUND Peutz-Jeghers(PJ)syndrome(PJS)is a rare autosomal dominant genetic disease characterized by the association of intestinal polyposis,mucosal skin pigmen-tation,and cancer susceptibility.PJS patients have a s...BACKGROUND Peutz-Jeghers(PJ)syndrome(PJS)is a rare autosomal dominant genetic disease characterized by the association of intestinal polyposis,mucosal skin pigmen-tation,and cancer susceptibility.PJS patients have a significantly increased risk of malignant tumors in the gastrointestinal tract and extra-gastrointestinal tract,including various epithelial malignant tumors(colorectal cancer,gastric cancer,pancreatic cancer,breast cancer,and ovarian cancer,etc.).PJS is commonly seen in children and adolescents with multiple small intestinal polyps,often causing intussusception.CASE SUMMARY A 62-year-old male presented with intermittent left lower abdominal pain after drinking or consuming cold beverages that was accompanied by occasional hematochezia.Abdominal contrast-enhanced computed tomography indicated an isolated sigmoid colon grape-like lesion.Subsequently,the patient underwent la-paroscopic surgery,and the pathological diagnosis was PJ hamartomatous polyp.PJS was not considered at the initial visit,as the patient was older,and the facial pigmentation was not obvious.However,significant pigmentation was observed in the perineum during digital rectal examination.Interestingly,we observed that the patient exhibited nodular shadows in the adrenal glands computed tomo-graphy images that may be related to pigmentation.Therefore,we performed the determination of adrenal cortical hormones,but the results were not abnormal.Combined with skin and mucosal pigmentation and laboratory examinations,the patient was diagnosed with PJS.After laparoscopic sigmoid colon resection,the patient's symptoms improved,and no discomfort symptoms were reported in the later follow-up.CONCLUSION The age of onset and lesion location of this case are different from those of typical or isolated PJS patients.展开更多
文摘BACKGROUND Complications arising from the polyps in Peutz-Jeghers syndrome(PJS)have historically been addressed through surgical treatment.Enteroscopic poly-pectomy is hypothesized to reduce the risk of surgery in PJS.However,the optimal timing for polyp screening and preventive intervention using entero-scopic polypectomy remains uncertain.This is primarily due to the extremely low incidence of the condition and the paucity of data regarding the natural risk of requiring surgery and its age distribution in PJS patients.In order to develop recommendations on the appropriate timing of polyp screening and preventive intervention in PJS,a comprehensive understanding of the natural surgical risks AIM To investigate the natural surgical risks associated with polyps in PJS and to clarify their age distribution.METHODS A web-based open survey was launched to collect information from Chinese individuals suspected of having PJS.The questionnaire was distributed to the PJS instant messaging groups using a quick response code method.The data were analyzed using descriptive statistical methods,and the cumulative incidence of surgery was calculated using the Kaplan-Meier method.RESULTS Of the 442 patients enrolled,301(68.10%)had undergone 506 surgical procedures prior to enteroscopy or the survey deadline.Among the 506 surgical procedures,388(76.68%)were performed on patients aged between 6 and 25 years.The cumulative incidence rates of the first surgical procedure at 5,10,15,20,25,and 30 years of age were 5.0%(95%confidence interval[CI]:2.9%-7.0%),20.6%(95%CI:16.6%-24.4%),40.5%(95%CI:35.5%-45.1%),58.0%(95%CI:52.7%-62.7%),72.6%(95%CI:67.3%-77.0%),and 82.4%(95%CI:77.0%-86.5%),respectively.The primary indications for the first surgical procedures were intussusception(81.40%),obstruction(13.95%),and gas-trointestinal bleeding(4.65%).The cumulative incidence rates of requiring a second surgical procedure within 1,3,5,10 and 15 years following the first surgical procedure were 3.7%(95%CI:1.5%-5.8%),12.5%(95%CI:8.6%-16.2%),20.3%(95%CI:15.6%-24.8%),37.0%(95%CI:33.1%-45.3%),54.2%(95%CI:46.8%-60.5%),respectively.Patients who underwent their first surgical procedure at the age of nine years or younger presented an elevated risk of requiring a second surgical procedure(P<0.01).CONCLUSION Chinese patients with PJS have a high natural risk of undergoing surgery.Without preventive intervention,these procedures may become necessary at an early age and may be repeated.Early screening and regular surveillance,with preventive intervention if necessary,should commence at six years of age.
基金Supported by Medical Science Research Program of Hebei Province,No.20250060.
文摘BACKGROUND Peutz-Jeghers(PJ)syndrome(PJS)is a rare autosomal dominant genetic disease characterized by the association of intestinal polyposis,mucosal skin pigmen-tation,and cancer susceptibility.PJS patients have a significantly increased risk of malignant tumors in the gastrointestinal tract and extra-gastrointestinal tract,including various epithelial malignant tumors(colorectal cancer,gastric cancer,pancreatic cancer,breast cancer,and ovarian cancer,etc.).PJS is commonly seen in children and adolescents with multiple small intestinal polyps,often causing intussusception.CASE SUMMARY A 62-year-old male presented with intermittent left lower abdominal pain after drinking or consuming cold beverages that was accompanied by occasional hematochezia.Abdominal contrast-enhanced computed tomography indicated an isolated sigmoid colon grape-like lesion.Subsequently,the patient underwent la-paroscopic surgery,and the pathological diagnosis was PJ hamartomatous polyp.PJS was not considered at the initial visit,as the patient was older,and the facial pigmentation was not obvious.However,significant pigmentation was observed in the perineum during digital rectal examination.Interestingly,we observed that the patient exhibited nodular shadows in the adrenal glands computed tomo-graphy images that may be related to pigmentation.Therefore,we performed the determination of adrenal cortical hormones,but the results were not abnormal.Combined with skin and mucosal pigmentation and laboratory examinations,the patient was diagnosed with PJS.After laparoscopic sigmoid colon resection,the patient's symptoms improved,and no discomfort symptoms were reported in the later follow-up.CONCLUSION The age of onset and lesion location of this case are different from those of typical or isolated PJS patients.
