• Journal of Digestive Cancer Reports
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• 제9권2호
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• pp.50-56
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• 2021

In patients having long-standing ulcerative colitis (UC), the risk of colorectal cancer (CRC) increased compared with general population. Dysplasia is a precancerous lesion of colitic patients, and traditionally total proctocolectomy was considered as a standard therapy to prevent colorectal cancer in UC patients. However, even with ileal pouch-anal anastomosis (IPAA), patients who underwent total proctocolectomy may experience early and late postoperative complications, such as ileus, bleeding, pouchitis, and so on. In addition, the bowel movement after proctocolectomy with IPAA reaches a median of seven times per day, and a considerable proportion of patients require daytime and nighttime pads. Change in the strategy for managing dysplasia started from two early studies, which suggested polypectomy for polypoid dysplasia to prevent CRC in colitic patients. After that, many studies supported that polypectomy should be the first option for the management of polypoid dysplasia. Moreover, recent studies suggested the feasibility of endoscopic submucosal dissection as a therapeutic option for non-polypoid dysplasia, although long term, large studies should be followed.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제6권2호
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• pp.208-214
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• 2003

저자들은 전신부종과 심한 저알부민혈증으로 내원한 환아에서 테그네슘표지 인혈청알부민 스캔을 이용하여 결장에서 단백이 소실되는 것을 확인하고, 바륨 관장 대장 조영술 검사, 상부 위장관 촬영, 소장 조영술, 대장과 십이지장 내시경 검사를 통해 단백 소실 장증으로 발현한 연소성 용종증을 진단하여, 전대장 절제술 후 단백 소실 장증이 호전된 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권12호
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• pp.4915-4920
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• 2015

Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.