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World Journal of Clinical Cases 2022年第5期10卷 1729-1737页

作者： Zhi Zhang Peng-Fei Yu Guo-Li Gu Yu-Hui Zhang Yu-Ming Wang Zhi-Wei Dong Hai-Rui Yang Department of General Surgery Air Force Medical CenterChinese People's Liberation ArmyBeijing 100142China Graduate School Hebei North UniversityZhangjiakou 075000Hebei ProvinceChina Health Team 93656 Troop of Chinese People's Liberation ArmyBeijing 101113China

BACKGROUND Diffuse invasive signet ring cell carcinoma of the colorectum is extremely rare *** type of colorectal cancer has certain clinical,pathological and biological characteristics that are different from ordinary colorectal *** SUMMARY A 31-year-old young woman was admitted to the hospital for nearly 1 wk due to recurrent symptoms of mucopurulent bloody stools and abdominal *** colonoscopy showed a ring-shaped intestinal wall mass 10 cm from the rectum to the *** pieces of tumor tissue were removed for *** pathological results showed rectal mucinous *** patient underwent laparoscopic exploration under general anesthesia,and then laparoscopic total colorectal resection,ileal pouch–anal anastomosis and ileostomy were *** patient was switched to a FOLFOX+cetuximab *** the fifth cycle,the patient was unable to tolerate further treatment due to tumor progression and multiple organ dysfunction,and died at the end of May *** survival was 7 *** Carcinogenesis of ulcerative colitis is different from sporadic colon cancer,and the overall prognosis is extremely poor.

关键词： Ulcerative colitis Colorectal cancer Signet ring cell carcinoma Case report

Clinical features,diagnosis,and treatment of Peutz-Jeghers syndrome:Experience with 566 Chinese cases

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World Journal of Gastroenterology 2023年第10期29卷 1627-1637页

作者： Zu-Xin Xu Li-Xin Jiang Yu-Rui Chen Yu-Hui Zhang Zhi Zhang Peng-Fei Yu Zhi-Wei Dong Hai-Rui Yang Guo-Li Gu Fifth Clinical College of Anhui Medical University Air Force Clinical College of Anhui Medical UniversityBeijing 100142China Air Force Clinical College of China Medical University Beijing 100142China Department of General Surgery Air Force Medical CenterChinese People's Liberation ArmyBeijing 100142China

BACKGROUND Peutz-Jeghers syndrome(PJS)is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities,scattered gastrointestinal polyps,and susceptibility to tumors as clinical *** preventive and curative methods are still *** we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features,diagnosis,and *** To explore the clinical features,diagnosis,and treatment of PJS in a Chinese medical *** The diagnosis and treatment information of 566 cases of PJS admitted to the Air Force Medical Center from January 1994 to October 2022 was summarized.A clinical database was established covering age,gender,ethnicity,family history,age at first treatment,time and sequence of appearance of mucocutaneous pigmentation,polyp distribution,quantity,and diameter,frequency of hospitalization,fre-quency of surgical operations,*** clinical data was retrospectively analyzed using SPSS 26.0 software,with P2 years,and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 *** vast majority(92.2%)of patients underwent small bowel endoscopy and treatment,with 2.3%having serious *** was a statistically significant difference in the number of enteroscopies between patients with and without canceration(P=0.004,Z=-2.882);71.2%of patients underwent surgical operation,75.6%of patients underwent surgical operation before the age of 35 years,and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer(P=0.000,Z=-5.127).At 40 years of age,the cumulative risk of intussusception in PJS was approximately 72.0%,and at 50 years,t

关键词： Peutz-Jeghers syndrome Management Intussusception Canceration STK11

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome

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World Journal of Gastroenterology 2021年第39期27卷 6631-6646页

作者： Guo-Li Gu Zhi Zhang Yu-Hui Zhang Peng-Fei Yu Zhi-Wei Dong Hai-Rui Yang Ying Yuan Department of General Surgery Air Force Medical CenterChinese People's Liberation ArmyBeijing 100142China Graduate School Hebei North UniversityZhangjiakou 075000Hebei ProvinceChina Department of Medical Oncology Cancer InstituteThe Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009Zhejiang ProvinceChina

Different types of pathogenic mutations may produce different clinical phenotypes,but a correlation between Peutz-Jeghers syndrome(PJS)genotype and clinical phenotype has not been *** all patients with PJS have detectable mutations of the STK11/LKB1 gene,what is the genetic basis of clinical phenotypic heterogeneity of PJS?Do PJS cases without STK11/LKB1 mutations have other pathogenic genes?Those are clinical problems that perplex *** The aim was to investigate the specific gene mutation of PJS,and the correlation between the genotype and clinical phenotype of *** A total of 24 patients with PJS admitted to the Air Force Medical Center,PLA(formerly the Air Force General Hospital,PLA)from November 1994 to January 2020 were randomly selected for inclusion in the *** hundred thirty-nine common hereditary tumor-related genes including STK11/LKB1 were screened and analyzed for pathogenic germline mutations by high-throughput nextgeneration sequencing(NGS).The mutation status of the genes and their relationship with clinical phenotypes of PJS were *** Twenty of the 24 PJS patients in this group(83.3%)had STK11/LKB1 gene mutations,90%of which were pathogenic mutations,and ten had new mutation *** mutations in exon 7 of STK11/LKB1 gene were significantly lower than in other *** mutations are more common in exons 1 and 4 of STK11/LKB1,and their pathogenicity was significantly higher than that of missense *** also found SLX4 gene mutations in PJS *** PJS has a relatively complicated genetic *** in the sites responsible for coding functional proteins in exon 1 and exon 4 of STK11/LKB1 may be one of the main causes of *** of the SLX4 gene may be a cause of genetic heterogeneity in PJS.

关键词： Peutz-Jeghers syndrome Genotype Phenotype STK11 Mutation

Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome

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World Journal of Gastroenterology 2020年第16期26卷 1926-1937页

作者： Zhi Zhang Fu-Xiao Duan Guo-Li Gu Peng-Fei Yu Air Force Clinical College(Air Force Medical Center)of Anhui Medical University Beijing 100142China Department of General Surgery the General Hospital of Northern Theater Command PLAShenyang 110016Liaoning ProvinceChina Department of General Surgery Air Force Medical CenterPLABeijing 100142China

BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare disease with clinical manifestations of pigmented spots on the lips,mucous membranes and extremities,scattered gastrointestinal polyps,and susceptibility to *** clinical heterogeneity of PJS is obvious,and the relationship between clinical phenotype and genotype is still *** To investigate the mutation status of hereditary colorectal tumor-associated genes in hamartoma polyp tissue of PJS patients and discuss its relationship with the clinicopathological data of *** Twenty patients with PJS were randomly selected for this study and were treated in the Air Force Medical Center(former Air Force General Hospital)PLA between 2008 and *** hamartoma polyp tissues were used for APC,AXIN2,BMPR1A,EPCAM,MLH1,MLH3,MSH2,MSH6,MUTYH,PMS1,PMS2,PTEN,SMAD4,and LKB1/STK11 gene sequencing using next-generation sequencing *** correlations between the sequencing results and clinical pathological data of PJS were *** Fourteen types of LKB1/STK11 mutations were detected in 16 cases(80.0%),of which 8 new mutations were found(3 types of frameshift deletion mutations:c.243delG,c.363_364delGA,and c.722delC;2 types of frameshift insertions:c.144_145insGCAAG,and c.454_455insC;3 types of splice site mutations:c.464+1G>T,c.464+1G>A,and c.598-1G>A);9 cases(45.0%)were found to have 18 types of heterozygous mutations in the remaining 13 genes except LKB1/*** these,MSH2:c.792+1G>A,MSH6:c.3689C>G,c.4001+13C>CTTAC,PMS1:c.46C>t,and c.922G>A were new *** The genetic mutations in hamartoma polyp tissue of PJS are complex and ***,other gene mutations in PJS hamartoma polyp tissue were observed,with the exception of LKB1/STK11 gene,especially the DNA mismatch repair gene(MMR).Colorectal hamartoma polyps with LKB1/STK11 mutations were larger in diameter than those with other gene mutations.

关键词： Peutz-Jeghers syndrome STK11 gene LKB1 gene Sequencing Genetic analysis