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Must Peutz-jeghers syndrome patients have the LKB1/STK11 gene mutation?A case report and review of the literature

World journal of Clinical Cases 2018年第8期6卷 224-232页

作者： Fu-Xiao Duan Guo-Li Gu Hai-Rui Yang Peng-Fei Yu Zhi Zhang Department of General Surgery Air Force General Hospital of Chinese PLA

Peutz-jeghers syndrome(PjS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of LKB1/STK11 gene on chromosome 19 p13.3 is considered to be the hereditary cause of PjS. However, must a patient with PjS have the LKB1/STK11 gene mutation? We here report a case of a male patient who had typical manifestations of PjS and a definite family history, but did not have LKB1/STK11 gene mutation. By means of high-throughput sequencing technology, only mutations in APC gene(c.6662 T > C: ***2221 Thr) and MSH6 gene(c.3488 A > T: ***1163 Val) were detected. The missense mutations in APC and MSH6 gene may lead to abnormalities in structure and function of their expression products, and may result in the occurrence of PjS. This study suggests that some other genetic disorders may cause PjS besides LKB1/STK11 gene mutation.

关键词： Peutz-jeghers syndrome Gastrointestinal polyps High-throughput sequencing LKB1/STK11 APC MSH6 Hamartoma

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Must pilots permanently quit flying career after treatment for colorectal cancer?-Medical waiver for Air Force pilots with colorectal cancer: Three case reports

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World journal of Clinical Cases 2020年第4期8卷 790-797页

作者： Guo-Li Gu Fu-Xiao Duan Zhi Zhang Xue-Ming Wei Li Cui Bo Zhang Department of General Surgery Air Force Medical CenterPLABeijing 100142China Department of General Surgery the General Hospital of Northern Theater Command PLAShenyang 110016Liaoning ProvinceChina Department of Aviation Diseases Air Force Medical CenterPLABeijing 100142China Department of Medical research Air Force Medical CenterPLABeijing 100142China

BACKGROUND Colorectal cancer(CRC)could seriously threaten the physical and mental health of *** they end their flying after treatment of CRC?With this study,we investigated the possibility of a gradual medical waiver for such pilots to fly aircrafts again after treatment of *** SUMMARY We analyzed the medical waiver and clinical data of 3 pilots with CRC,who had accepted the treatment at the Department of General Surgery,Air Force Medical Center(formerly,Air Force General Hospital)between 2013 and *** 3 cases underwent a series of comprehensive treatment courses,including radical resection of CRC,sequential radiotherapy,and *** follow-up results were *** passing through the high-risk period of recurrence and metastasis of CRC,they all were given a medical waiver for flying *** observation showed that their flying operations were *** The CRC treatment shall follow the guidelines for diagnosis and treatment and should simultaneously protect the combating capabilities of pilots as much as *** is safe for pilots with CRC,who are continuously monitored under medical observation after passing through the high-risk period of recurrence and metastasis,to undertake military flight missions again.

关键词： Colorectal cancer Pilot Waiver Treatment Military medicine Aeromedicine Case report

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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

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Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction

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World journal of Gastroenterology 2016年第20期22卷 4958-4962页

作者： Xiang Fei Hai-Rui Yang Peng-Fei Yu Hai-Bo Sheng Guo-Li Gu Department of General Surgery the Air Force General Hospital Chinese PLA Department of Urinary Surgery the Air Force General Hospital Chinese PLA

Abdominal cocoon syndrome(ACS) is a rare cause of intestinal obstruction due to total or partial encapsulation of the small intestine by a fibrocollagenous membrane. Idiopathic ACS with abdominal cryptorchidism and greater omentum hypoplasia is even rarer clinically. We successfully treated a 26-year-old male case of small bowel obstruction with acute peritonitis. He was finally diagnosed with idiopathic ACS with unilateral abdominal cryptorchidism and greater omentum hypoplasia during exploratory laparotomy. He then underwent enterolysis, cryptorchidectomy, and appendectomy. He recovered gradually from the operations and early postoperative inflammatory ileus. There has been no recurrence of intestinal obstruction since the operation, and he is still in follow-up. We analyzed his clinical data and retrospectively reviewed the literature, and our findings may be helpful for the clinical diagnosis and treatment on ACS.

关键词： Abdominal cocoon syndrome Abdominal cryptorchidism Intestinal obstruction Diagnosis Treatment

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