• Journal of Chest Surgery
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• 제25권5호
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• pp.544-549
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• 1992

Carcinoid tumors can be ubiquitous, but most will originate in four sites: appendix [38%], small intestine[24%], rectum[13%] or bronchus[11.6%]. And bronchial carcinoids are rare, accounting for only 1% to 6% of all primary lung tumors. Familial adenomatous polyposis cali, the most common form of the polyposis syndromes attributable to a genetic defect, is defined by demonstration of at least 100 adenomatous polyps in the large intestine. We experienced a case of typical bronchial carcinoid with familial adenomatous polyposis cali in 23 year old female patient, which was surgically treated by left lower lobectomy.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.5101-5104
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• 2012

Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.

• Clinical and Experimental Pediatrics
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• 제45권12호
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• pp.1591-1595
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• 2002

가족성 선종성 용종증은 전 대장에 수백개 이상의 용종들이 발생하는 유전성 질환으로, 예방적 대장절제술을 시행하지 않으면 거의 100%에서 대장암으로 악성화 한다. NSAID와 선택적 COX-2 억제제가 용종의 퇴행을 유발하는데 효과가 있는 것으로 알려져 있다. 저자들은 9년 5개월 여아에서 FAP로 진단받고 6개월간 선택적 COX-2 억제제인 celecoxib를 투여한 후 증상이 소실되고 양호한 성장을 보였을 뿐만 아니라 용종의 수와 크기도 현저하게 감소한 1례를 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제7권1호
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• pp.24-36
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• 2010

대장암은 우리나라에서 가장 급격하게 발생이 증가하는 암종의 하나로 유전성 대장암은 전체 대장암의 5-15%를 차지한다. 유전성 대장암은 크게 유전성 비용종증 대장암과 유전성 용종 증후군에서 발생하는 대장암으로 나눌 수 있고, 유전성 용종 증후군에는 가족성 용종증, 포이츠-예거증후군, 유년기 용종증, MYH 연관 용종증 등이 이에 해당한다. 유전성 대장암은 원인 유전자의 배선돌연변이에 기인하므로 산발성 대장암에 비하여 암이 조기 발생하고, 동시성 및 이시성 암이 흔하며, 대장 이외의 장기에도 종양을 비롯한 질병을 일으키는 특징이 있다. 유전성 대장암은 환자뿐 아니라 가족구성원에 대한 유전자 검사, 유전 상담, 조기 진단을 위한 정기검진이 매우 중요하며, 이러한 환자 및 가족구성원의 효율적 관리를 위한 유전성종양 등록소의 역할이 중요하다. 본 논문에서는 유전성 대장암에 해당하는 질환들의 임상적/유전적 특성, 치료, 유전자 검사 및 정기검진 프로그램에 대하여 고찰하고자 한다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제35권6호
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• pp.421-426
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• 2013

Gardner syndrome, an autosomal dominant inherited condition, is a subtype of familial adenomatous polyposis. It causes lesions in bones, skin, and teeth, as well as multiple gastrointestinal polyps, which, if left untreated, become malignant. Because patients with colorectal cancer have a low survival rate, early diagnosis and treatment of Gardner syndrome is critical. Therefore, the characteristic lesions of Gardner disease that appear on the face, jaws, and oral cavity must be understood; these can be evaluated by oral and maxillofacial clinicians. This report describes a case that was diagnosed and treated earlier with the help of a routine oral and maxillofacial examination and has had a seemingly good prognosis so far.

• Journal of Gastric Cancer
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• 제20권2호
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• pp.225-231
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• 2020

Gastric cancer is a rare condition affecting patients with familial adenomatous polyposis (FAP). The mainstay of treatment is total gastrectomy. Since duodenal cancer is the most common cause of death after total colectomy in FAP, endoscopic surveillance for duodenal cancer is mandatory. Here, we describe the use of an isoperistaltic jejunal loop interposition technique to reconstruct the digestive tract after total gastrectomy in 2 patients with FAP. There were no early or late complications. Both patients are still alive and in good clinical condition. They did not experience weight loss or symptoms of dumping syndrome. Duodenal endoscopic surveillance after this technique was easier than after the classical Roux-en-Y reconstruction. Hence, regular follow-up was possible for both patients.

• Asian Pacific Journal of Cancer Prevention
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• 제15권16호
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• pp.6945-6948
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• 2014

Background: Familial adenomatous polyposis (FAP) is a disease inherited in an autosomal dominant fashion. Most FAP patients develop upper gastrointestinal polyps; especially those in the antrum and duodenum are usually neoplastic. The aim of this study was to evaluate the prevalence of gastroduodenal polyps in Iranian FAP patients. Materials and Methods: 28 patients affected by FAP underwent front-view and side-view endoscopy. Papillary biopsies were performed in all patients. Location of polyps, their number and size, pathology study, patient general information (gender, age, family history of FAP or colorectal cancer and gastroduodenal polyps) were analyzed. Results: Gastric polyps were seen in 39.3 % of patients. Some 72.7% of the affected individuals had fundic gland polyps and 36.36% had hyperplastic polyps. Duodenal adenoma was observed in 25% of patients. While 57% of patients had tubular adenoma with low grade dysplasia, 42.8% showed tubulovillous adenoma with low grade dysplasia. Conclusions: Findings of this study indicated that the prevalence of gastroduodenal polyps in FAP patients is high and dysplasia may be evident in duodenal polyps. Therefore, it appears that routine gastroduodenal endoscopy in FAP patients is necessary.

• 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,.

• Imaging Science in Dentistry
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• 제46권4호
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• pp.267-272
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• 2016

Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.

• Journal of Digestive Cancer Research
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• 제9권2호
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• pp.60-67
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• 2021

Tumors of the small intestine are rare and generally asymptomatic or with nonspecific symptoms. The small intestine is difficult to approach using conventional endoscopy, and early diagnosis of the small intestinal tumors is difficult. Therefore, many of the small intestinal tumors are diagnosed at an advanced stage, which makes the prognosis poor. Premalignant lesions of the small intestine or known risk factors of small bowel cancer are sporadic adenoma, adenoma associated with familial adenomatous polyposis, hamartomatous polyp associated with Peutz-Jeghers syndrome, Crohn's disease, and celiac disease. Therefore, it is necessary to recognize that the small bowel cancer can occur in these patients with premalignant lesions or risk factors of small bowel cancer. To reduce the possibility of small bowel cancer or to detect at an earlier stage, attention should be paid to screening and surveillance of these patients with premalignant lesions or risk factors of the small bowel cancer.