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Periampullary adeno...
Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis : Cumulative risks and APC gene Mutations
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- Björk, Jan (författare)
- Karolinska Institutet
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- Åkerbrant, Helena (författare)
- Department of Gastroenterology and Hepatology, Karolinska Hospital, Karolinska Institute, Stockholm
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- Iselius, Lennart (författare)
- Department of Surgery, Karolinska Hospital, Karolinska Institute, Stockholm
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- Bergman, Annika (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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- Engwall, Yvonne (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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- Wahlström, Jan, 1939 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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- Martinsson, Tommy, 1956 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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- Nordling, Margareta, 1962 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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- Hultcrantz, Rolf (författare)
- Karolinska Institutet
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(creator_code:org_t)
- Elsevier, 2001
- 2001
- Engelska.
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Ingår i: Gastroenterology. - : Elsevier. - 0016-5085 .- 1528-0012. ; 121:5, s. 1127-1135
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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https://gup.ub.gu.se...
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Abstract
Ämnesord
Stäng
- Background & Aims: Patients with familial adenomatous polyposis (FAP) have a high prevalence of duodenal adenomas, and the region of the ampulla of rater is the predilection site for duodenal adenocarcinomas. This study assessed the risk of stage IV periampullary adenomas according to the Spigelman classification and periampullary adenocarcinomas in Swedish FAP patients screened by esophagogastroduodenoscopy (EGD). The genotype of patients with stage IV periampullary adenomas and periampullary adenocarcinomas was also investigated. Methods: A retrospective study of 180 patients screened by EGD in 1982-1999 was undertaken. Kaplan-Meier analysis was performed to evaluate cumulative risk. Mutation analysis was carried out in patients with periampullary adenocarcinomas diagnosed outside the screening program, in addition to patients in the screening group with stage IV periampullary adenomas and adenocarcinomas. Results: Periampullary adenoma stage IV was diagnosed in 14 patients (7.8%), with a cumulative risk of 20% at age 60 years. Periampullary adenocarcinoma was diagnosed in 5 patients (2.8%), with a cumulative risk of 10% at age 60. Three of the adenocarcinomas occurred in patients with stage IV periampullary adenomas compared with 2 in patients with less severe periampullary adenomatosis at screening (odds ratio, 31; 95% confidence interval, 4.6-215). Fifteen (88%) of the APC gene mutations were detected; 12 of these were located downstream from codon 1051 in exon 15. Conclusions: The life time risk of severe periampullary lesions in FAP patients is high, and an association between stage IV periampullary adenomas and a malignant course of the periampullary adenomatosis is strongly suggestive. Mutations downstream from codon 1051 seem to be associated with severe periampullary lesions.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Gastroenterologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Gastroenterology and Hepatology (hsv//eng)
Nyckelord
- APC protein
- adenocarcinoma
- adenomatous polyp
- adult
- aged
- article
- cancer risk
- cancer staging
- clinical article
- codon
- disease course
- familial disease
- female
- gene mutation
- genetic analysis
- genotype
- human
- human tissue
- male
- prevalence
- priority journal
- retrospective study
- reverse transcription polymerase chain reaction
- statistical analysis
- Vater papilla tumor
- Adenocarcinoma
- etiology
- Adenoma
- Adenomatous Polyposis Coli
- complications
- Adult
- Aged
- Ampulla of Vater
- Common Bile Duct Neoplasms
- Duodenal Neoplasms
- Female
- Genes
- APC
- Humans
- Male
- Middle Aged
- Mutation
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Björk, Jan
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Åkerbrant, Helen ...
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Iselius, Lennart
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Bergman, Annika
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Engwall, Yvonne
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Wahlström, Jan, ...
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Martinsson, Tomm ...
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Nordling, Margar ...
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Hultcrantz, Rolf
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Gastroenterologi
- Artiklar i publikationen
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Gastroenterology
- Av lärosätet
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Jönköping University
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Karolinska Institutet
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Göteborgs universitet