한국인 대장 용종증에 대한 고찰 (1990)

박재갈,박규주,원치규,강중신,권오중,김진,김경국,김광연,김남규 대한대장항문학회 1991 Annals of Coloproctolgy Vol.7 No.1

소아 대장용종증 환자의 임상양상 및 내시경적, 조직학적 소견

임미선,서정기,고재성,양혜란,강경훈,김우선,Lim, Mi-Sun,Seo, Jeong-Kee,Ko, Jae-Sung,Yang, Hye-Ran,Kang, Gyeong-Hoon,Kim, Woo-Sun 대한소아소화기영양학회 2010 Pediatric gastroenterology, hepatology & nutrition Vol.13 No.2

목 적: 대장용종증은 소아에서는 드문 질환군으로 다수의 용종으로 인한 출혈, 복통, 장중첩증 등이 반복될 수 있고 용종의 악성화나 장외종양이 발생할 수 있으나 아직은 이에 관한 연구가 많지 않다. 본 연구에서는 소아 대장용종증의 임상 양상과 내시경적, 조직학적 특징을 살펴보고자 하였다. 방 법: 서울대병원 어린이병원에서 1987년부터 2009년까지 대장내시경을 시행 받은 2,956명의 소아 환자중에서 대장용종증으로 진단받은 37명의 환자를 대상으로 의무기록 분석을 시행하였다. 대장용종증 환자들의 진단 시 평균나이는 8세였다. 결 과: Peutz-Jeghers 증후군이 22예로 가장 많았으며 연소성 용종증 7예, 가족성 선종성 용종증 6예, 림프성용종증 2예이었다. 내원 시 가장 흔한 주소는 혈변이었다. 50% 이상의 환자에서 혈변과 복통이 동반되었고 일부에서 항문종괴, 설사, 변비가 동반되었다. 용종의 수와 크기는 다양하였고 위장과 소장에 용종이 동반된 환자는 각각 21명, 17명이었다. Peutz-Jeghers 증후군 환자에서는 주로 다엽성의 목이 있는 용종이 관찰되었다. 연소성 용종증 환자에서는 둥글고 목이 있는 용종이 대부분이었다. 가족성 선종성 용종증 환자에서는 작고 둥글며 목이 없는 용종이 관찰되었다. 림프성 용종증 환자에서는 목이 없는 용종이 관찰되었다. 모든 환자는 내시경적 용종절제술을 시행받았고 14명(38%)은 수술적 용종절제술을 시행받았다. 부분장절제술을 시행받은 환자는 13명(35%)이었고, 가족성 선종성 용종증 환자 4명은 전대장절제술을 시행받았다. Peutz-Jeghers 증후군 환자 중 일부에서 장외 종양이 발생하였으나 용종의 악성화는 없었다. 결 론: 소아의 대장용종증 환자는 출혈, 복통 등의 증상을 보이며 장중첩증 등의 합병증이 발생할 수 있어 조기 진단과 치료가 필요하며 정기적인 대장내시경 검사를 통해 합병증을 예방하고 용종의 악성화나 장외 종양 여부를 확인해야 한다. Purpose: Colonic polyposis is less common in children than in adults. The clinical data pertaining to colonic polyposis in children are limited. Children with colonic polyposis have complications associated with numerous polyps, malignant transformation of the polyps, and extraintestinal neoplasms. We studied the clinical spectrum, endoscopic characteristics, and histologic findings of colonic polyposis in Korean children. Methods: We reviewed the clinical data of 37 children with multiple colonic polyps between 1987 and 2009. The mean age at the time of diagnosis of colonic polyposis was 8.0${\pm}$3.2 years. Results: Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis (FAP), and lymphoid polyposis was diagnosed in 22, 7, 6, and 2 children, respectively. The most common clinical presentation in children with colonic polyposis was hematochezia. A family history of colonic polyposis was noted in 7 children. The colonoscopic findings of colonic polyposis varied with the size and number of polyps. The majority of polyps were multi-lobulatd and pedunculated in children with Peutz-Jeghers syndrome. The polyps in children with juvenile polyposis syndrome were primarily round and pedunculated. For the children with FAP, the colon was carpeted with small, sessile polyps. There were multiple sessile polyps in the patients with lymphoid polyposis. Surgical polypectomy was performed in 14 children (38%). Intestinal segmental resection was performed in 13 children (35%). Four patients with FAP underwent total colectomy. Four children with Peutz-Jeghers syndrome had extraintestinal neoplasms. No malignant transformation of polyp was identified. Conclusion: Children with colonic polyposis should undergo a careful initial evaluation and require periodic re-evaluation.

A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases

장재훈,박효진,윤상진 거트앤리버 소화기연관학회협의회 2013 Gut and Liver Vol.7 No.1

Attenuated familial adenomatous polyposis (AFAP) is a variant of familial adenomatous polyposis with fewer than one hundred colorectal polyps and a later age of onset of the cancer. Here, we report two cases of AFAP within family members. Each patient demonstrated the same novel germ line mutation in exon 15 of the adenomatous polyposis coli (APC) gene and was successfully managed with sulindac after refusal to perform colectomy: a 23-year-old man with incidentally diagnosed gastric adenoma and fundic gland polyps underwent colonoscopy, and fewer than 100 colorectal polyps were found; a 48-year-old woman who happened to be the mother of the 23-year-old man also showed fewer than 100 colorectal polyps on colonoscopy. Genetic analysis revealed a novel frameshift mutation in exon 15 of the APC gene. The deletion of adenine-guanine with the insertion of thymine in c.3833-3834 resulted in the formation of stop codon 1,287 in both patients. The patients were treated with sulindac due to their refusal to undergo colectomy. The annual follow-up upper endoscopy and colonoscopy in the following 2 years revealed significant regression of the colorectal polyps in both patients.

가족샘종폴립증에 연관한 유두 갑상샘암종의 체모양-오디모양 변형

김유리,신선미,조창호,김정규 대한이비인후과학회 2014 대한이비인후과학회지 두경부외과학 Vol.57 No.5

We report a case of cribriform-morular variant of papillary thyroid carcinoma associated with familial adenomatous polyposis. A 21-year-old woman presented with multiple, well-defined, oval shaped thyroid nodules, which showed hypo-echoic and solid mixed with some cystic components by ultrasound, and poorly enhancing and low dense by CT scan. Cytological finding was compatible with papillary carcinoma. Total thyroidectomy was performed and nodules were palated soft. Histologic analysis confirmed the diagnosis of cribriform-morular variant of papillary thyroid carcinoma. Familial adenomatous polyposis, thereafter, was diagnosed by family history and colonoscopy, and preventive colectomy was performed. Korean J Otorhinolaryngol-Head Neck Surg 2014;57(5):329-32

한국의 가족성 용종증 가계에서 DNA표지들을 이용한 증상발현전 진단에 관한 연구

이성찬(Sung Chan Lee),한혜정(Hye Jung Han),강명수(Myung Soo Kang),최규완(Kyoo Wan Choi),박재갑(Jae Gahb Park) 대한소화기학회 1995 대한소화기학회지 Vol.27 No.2

N/A Background/Aims: The gene responsible for familial adenomatous polyposis(FAP), called the APC gene, has been localized to chromosome 5q21 region, and many DNA probes that identify genetic polymorphism near this locus are now available. In this paper, we used DNA markers linked to APC locus to determine their usefulness in the presymptomatic diagnosis of 3 Korean FAP families. Methods: Three DNA probes(Ci lpl I, ECB27 and 69-III) were used to assess FAP inheritance by restriction fragment length polymorphism(RFLP) analysis. Results: The DNA probes Cl 1pl l and 69-III didn't show any polymorphism or informativeness in Korean FAP families, including the spouse population. The DNA probe ECB27 showed the Bgl IJ polymorph- ism with allele frequency of 0.77 and 0.23 in the spouse population. We could make a presympto- matic diagnosis in 7 out of l7 children (with the informativeness rate of 41%) by confirming whether they inherited the chromosome which has APC gene abnormality or not. However, this result does not guarantee 100% accuracy because recombination phenomenon can occur between the DNA marker and the APC gene. Conclusion: The DNA probes Cl 1pl I and 69-III are not helpful in presymptomatic diagnosis, but the DNA probe ECB27 can be used appropriately in presymptomatic diagnosis of FAP because it provides sufficient informativeness to the members of Korean FAP families. (Korean J Gastroenterol 1995;27:189 - 198)

Case report : A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases

Jaehoon Jahng,Sang Jin Yoon,Hyojin Park 대한소화기학회 2013 Gut and Liver Vol.7 No.1

Gardner Syndrome Showing Multiple Osteomas in the Jaws

Kim, Yongsoo,Lee, Sun Jae,Baek, Jin-A,Ko, Seung-O,Leem, Dae-Ho Korean Association of Maxillofacial Plastic and Re 2013 Maxillofacial Plastic Reconstructive Surgery Vol.35 No.6

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.

뇌수모세포종 및 가족성 선종성 용종증으로 발현한 Turcot 증후군 1예

정수인,서정민,이지혁,이해정,이지현,성기웅,송혜정,최연호,Jeong, Soo-In,Suh, Jung-Min,Lee, Ji-Hyuk,Lee, Hae-Jung,Lee, Jee-Hyun,Sung, Ki-Woong,Song, Hye-Jung,Choe, Yon-Ho 대한소아소화기영양학회 2007 Pediatric gastroenterology, hepatology & nutrition Vol.10 No.2

저자들은 수모세포종이 있는 24세 여자 환자에서 가족성 선종성 용종증이 동반된 Tucot 증후군 1예를 경험하였으며 문헌고찰과 함께 보고하는 바이다. Turcot syndrome is characterized by the concurrence of a primary neuroepithelial brain tumor and multiple colorectal polyposis. We report a case of a 24-year-old woman diagnosed with Turcot syndrome. At first, the patient was diagnosed as having a medulloblastoma after a tumorectomy of the 4th ventricle mass. The patient underwent radiotherapy and chemotherapy. After high-dose chemotherapy, neutropenic fever and severe mucositis developed. For an evaluation of the persistent hematochezia and diarrhea, a colonoscopy was performed. It revealed pseudomembranous colitis and multiple polyps in the entire colon. According to the family history, her father had undergone a total colectomy due to colon cancer and polyposis of the entire colon. Her brother also was found to have multiple polyps in the colon by a colonoscopy. The patient was diagnosed with Turcot syndrome.

Prevalence of gastric and duodenal polyps and risk factors for duodenal neoplasm in korean patients with familial adenomatous polyposis.

Park, So Youn,Ryu, Ji Kon,Park, Ju Hee,Yoon, Hyuk,Kim, Ji Yeon,Yoon, Yong Bum,Park, Jae-Gahb,Lee, Sang Hyub,Kang, Sung-Bum,Park, Ji Won,Oh, Jae Hwan Editorial Office of Gut and Liver 2011 Gut and Liver Vol.5 No.1

<P>The prevalence of gastric polyps, duodenal adenoma and duodenal cancer has been reported as being high among familial adenomatous polyposis (FAP) patients, but there have been no reports of this association in Korea. This study evaluated the prevalence of gastric and duodenal polyps and risk factors for duodenal neoplasm in FAP patients in Korea.</P>

가족성 용종증

장영문,장문영,김종훈,황용 의과학연구소 1997 全北醫大論文集 Vol.21 No.2

Familial adenomatous polyposis is autosomal dominant inherited, not sex linked disease, which caused by a mutation in adenomatous poyposis coli gene in chromosome 5q21 and is diagnosed when a patient has more than 100 adenomatous polyps in a colon or when a member of FAP family has any number of colo-nic adenomatous discovered. Patients with FAP have no symptoms, which are bloody stool, diarrhea, lower abdominal pain, anemia and weight loss until postadolescence, at which time the first polyps may appear and polyps are developed to cancer before 40 years old. Early detection is essential to prevent the development of metastaic cancer. Diagnosis of FAP is established by rectal examination, sigmoidoscopy or colonoscopy, identification of greater than 100 polyps on air contrast barium enema and gene test of a suspected member of FAP fa-mily. Treatment is total colectomy and permanent ileostomy, total colectomy and ileorectal anastomosis, and total colectomy, mucosal proctectomy and ileal poch-anal anastomosis. We experienced 4 cases of familial adenomatous polyposis and reported with review of literatures. (Key word : familial adenomatous polyposis)