Centralized Registration, Prophylactic Examination, and Treatment Results in Improved Prognosis in Familial Adenomatous Polyposis: Results from the Danish Polyposis Register

Bülow, Steffen; Bülow, Cille; Nielsen, Toke Rammer; Karlsen, Lars Normann; Moesgaard, F

doi:10.3109/00365529509096343

Cited by 92 publications

(60 citation statements)

References 9 publications

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“…In future, we will have to find how to prevent or treat desmoid tumors and periampullary carcinoma. 10 Although we are confident that this kind of registry system is indispensable for the welfare of patients with FAP, 11,12 it has become more and more difficult to keep this system practical and active, because recent ethical circumstances require not only the informed consent of patients 13 but also the approval of the Ethics Boards of each institute. This may be the last time for us to be able to renew our data and publish this kind of analysis.…”

Section: Discussionmentioning

confidence: 99%

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A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan

et al. 2004

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The clinical situation of familial adenomatous polyposis (FAP) in Japan has changed in the period since the last analysis of data of the Japanese Polyposis Center. To reevaluate our data and elucidate the changes we analyzed the records of the 1390 FAP patients in 900 families registered with the Polyposis Committee of the Japanese Society for Cancer of the Colon and Rectum. In the 13-year period 1990-2003, clinical differences between men and women with FAP diminished. The postoperative prognosis was substantially better in patients without advanced colorectal cancer (stage > or = T2) than in those with early cancer or no cancer. Mean age at death improved from 42.5 years in the period before 1990 to 46.0 years, and it was a result of a decreased proportion of deaths from colorectal cancer. The distribution of colorectal cancer in FAP patients was similar to that in the general population. Desmoid tumors accounted for about 10% of deaths in the recent 13 years (1990-2003). The cumulative risk of rectal cancer in the preserved rectum was 12% at 10 years and 23% at 15 years. The registry system in Japan revealed a new clinical situation in FAP patients, and the findings of this study will be useful to improve the prognosis of patients with FAP.

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Section: Discussionmentioning

confidence: 99%

“…Acknowledgments This work was supported in part by the Grant-inAid for Cancer Research (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(15)(16) from the Ministry of Health, Labour and Welfare. We are most grateful to doctros and institutes that cooperated with us in this registration activity.…”

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confidence: 97%

A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan

et al. 2004

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“…The syndrome is characterized by early development of multiple colonic adenomatous polyps, with the inevitable progression to colorectal carcinoma if left untreated. The increasing use of prophylactic colectomy in FAP patients prevents the development of life-terminating early-onset colorectal carcinoma and significantly improves long-term survival (Bulow et al, 1995;Bulow, 2003).…”

Section: Introductionmentioning

confidence: 99%

Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli

Bläker

Sutter

Kadmon

et al. 2004

Genes Chromosomes & Cancer

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Patients with familial adenomatous polyposis coli (FAP) carry heterozygous mutations of the APC gene. At a young age, these patients develop multiple colorectal adenomas that consistently display a second somatic mutation in the remaining APC wild-type allele. Inactivation of APC leads to impaired degradation of beta-catenin, thereby promoting continuous cell-cycle progression. The role of APC inactivation in rare extracolonic tumors of FAP patients has not been characterized sufficiently. Among tissue specimen from 174 patients with known APC germ-line mutations, we identified 8 tumors infrequently seen in FAP. To investigate the pathogenic role of APC pathway deregulation in these lesions, they were analyzed for second-hit somatic mutations in the mutational cluster region of the APC gene. Immunohistochemistry was performed to compare the expression pattern of beta-catenin to the mutational status of the APC gene. Exon 3 of the beta-catenin gene (CTNNB1) was analyzed for activating mutations to investigate alternative mechanisms of elevated beta-catenin concentration. Although CTNNB1 mutations were not observed, second somatic APC mutations were found in 4 of the 8 tumors: a uterine adenocarcinoma, a hepatocellular adenoma, an adrenocortical adenoma, and an epidermal cyst. These tumors showed an elevated concentration of beta-catenin. No APC mutations were seen in focal nodular hyperplasia of the liver, angiofibrolipoma, and seborrheic wart. This is the first study reporting second somatic APC mutations in FAP-associated uterine adenocarcinoma and epidermal cysts. Furthermore, our data strengthen a role for impaired APC function in the pathogenesis of adrenal and hepatic neoplasms in FAP patients.

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“…Many reports have suggested an association between FAP and extra colonic lesions such as neoplasms of the stomach, ampulla of Vater, and small intestine (3,27). However, few reports have described a correlation between FAP and polyposis or carcinoma in the hepatopancreaticobiliary tract.…”

Section: Resultsmentioning

confidence: 99%

The Surgical Treatment Options for Familial Adenomatous Polyposis: A Clinic Experience

Tarcan¹,

Turanlı²,

Güler³

et al. 2016

Acta Oncol Tur.

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ÖZET Amaç: Ailesel adenomatöz polipoziste (AAP) cerrahi tedavi, abdominal kolektomi-ileorektal anastomoz (IRA), restoratif proktokolektomi-ileal J poş anal anastomoz (IPAA) ve total proktokolektomi-kalıcı ileostomiyi içerir. Bu çalışma ile hangi tip cerrahi yöntemin en iyi seçenek olduğu irdelendi. Gereç ve Yöntemler: Ailesel adenomatöz polipozis tanısıyla 2004-2014 yılları arasında aynı merkezde cerrahi girişim uygulanmış 20 hasta çalışmaya alındı. Hastalar uygulanan ameliyat türüne göre 3 gruba ayrıldı. Demografik özellikler, ameliyat bulguları, patoloji sonuçları ve klinik seyirlerine ilişkin veriler geriye dönük olarak hastane kayıtlarından elde edildi. Bulgular: Yirmi hastada AAP tanısı kolonoskopi ve patoloji raporuna dayanılarak konuldu. Bunların 15'inde kanser gelişmişken 5 hastada kolonoskopik taramada kanser henüz gelişmeden tanı konuldu. Kanser gelişen ve gelişmeyen hastaların ortanca yaşı sırasıyla 37 ve 20 yaş. Dört hastaya IPAA, 4 hastaya IRA ve geri kalan 12 hastaya total proktokolektomi kalıcı ileostomi uygulandı. Hastaların hepsinde 100 ve üzerinde kolonda polip vardı. Hastalar ortanca 38 aya takip edildi. Bu takip esnasında 8 hastada (%40.0) tekrarlayan veya metastatik hastalık gelişti. Bunlar; 4 hastada uzak metastaz, 3 hastada rektum kanseri (hepsine daha önce IRA yapılmış) ve bir hastada ise desmoid tümör şeklindeydi. Ayrıca IRA yapılmış 1 hastada rektumda adenom gelişti. Ileal poş adenomu ya da ileostomide adenom gelişimi izlenmedi. Dört hasta hastalığa bağlı kaybedildi. Bunlardan 3'ü metastatik hastalık gelişimine bağlıyken kalan 1 hastada dev desmoid tümörün neden olduğu böbrek yetmezliği ölüm sebebiydi. Sonuç: Ameliyat öncesi kanser tanısı konulmuş klasik AAP hastalarında cerrahi yöntem olarak abdominal kolektomi-IRA seçimi iyi bir seçenek olmayabilir. Ancak çalışmanın az sayıda hastayı kapsadığı da göz önünde bulundurulmalıdır. Anahtar Kelimeler: Ailesel adenomatöz polipozis, kolektomi, proktokolektomi, karsinom ABSTRACT Objective: Familial adenomatous polyposis (FAP) is treated by abdominal colectomy with ileorectal anastomosis (IRA), restorative proctocolectomy with ileal J-pouch anal anastomosis (IPAA), and total proctocolectomy with ileostomy. This study investigated question is what type of surgery is better. Material and Method: Twenty FAP patients, who underwent surgery in a single hospital between 2004 and 2014, were included. Patients were classified in 3 groups according to the operation procedures. Demographic, surgical, pathological, and outcome data were analyzed from hospital records retrospectively. Results: Overall 20 patients were included, 15 index patients, and 5 relatives diagnosed by screening. Median age of patients with or without colorectal cancer was 37 and 20 years respectively. Four patients were treated by IPAA, 4 by IRA, and 12 by proctocolectomy. All patients presented with 100 or more colonic polyps. The median follow-up time was 38 months. During the follow-up period, 8 (40.0%) patients developed recurrent or metastatic disease. There were; distant metast...

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Centralized Registration, Prophylactic Examination, and Treatment Results in Improved Prognosis in Familial Adenomatous Polyposis: Results from the Danish Polyposis Register

Abstract: The establishment of a centralized polyposis register has resulted in a substantial improvement of the prognosis in FAP.

Cited by 92 publications

References 9 publications

A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan

A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan

Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli

The Surgical Treatment Options for Familial Adenomatous Polyposis: A Clinic Experience

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