Polyposis Syndromes

Phillips, R. K. S.; Clark, Susan

doi:10.1007/978-0-387-36374-5_26

Cited by 6 publications

(4 citation statements)

References 85 publications

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“…The principal clinical characteristic of FAP is the development of precancerous colorectal adenomatous polyps, with more than 100 considered pathognomic of the condition [8]. Development of CRC is a virtual inevitability unless prophylactic colectomy is undertaken, with total polyp counts greater than or equal to 1,000 conferring a relative risk (RR) for CRC of 2.3 [9].…”

Section: Introductionmentioning

confidence: 99%

“…Extracolonic manifestations of FAP[8,14] Data on eligible patients were collected from the St Mark's Hospital Polyposis Registry database, which contains details on all polyposis patients known to St Mark's Hospital since the inception of the Registry in 1924. St Mark's Polyposis Registry utilises a custom-made database for the purposes of registering and tracking patients.…”

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confidence: 99%

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Colorectal cancer: no longer the issue in familial adenomatous polyposis?

2010

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Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal cancer (CRC) syndrome with an untreated lifetime prevalence of CRC close to 100% and extracolonic manifestations (ECM) of increasing clinical significance. This study examined the effect of systematic callup and prophylactic colectomy on FAP survival. Patients diagnosed, treated and followed-up at our institution were analysed. 'Callups' were those identified via the callup system; 'probands' were those identified by other means. Proportions were analysed by Chi-squared or Fischer's exact test. Mortality rates were indirectly standardised to the UK population. Survival curves from birth were estimated by Kaplan-Meier. A total of 439 patients (293 callups, 146 probands) were analysed. Crude mortality rates (CMRs) of callups and probands were 4.85 per 1,000 person years (PY) and 9.71 per 1,000 PY, respectively-a rate ratio of 0.50 (95% CI 0.34-0.72, P = 0.0001). The standardised mortality ratio (SMR) of callups was non-significantly lower than probands (4.12 vs. 4.70). Callups experienced non-significantly lower age-band specific SMR up to 45 years. More probands died of CRC (42.4 vs. 22.5%, P = 0.025), whereas more callups died of ECM (30.6 vs. 13.4%, P = 0.027). Median survival was 64 years for callups and 60 years for probands; survival curves did not differ significantly (P = 0.253). The crude mortality rate of callups is approximately half that of probands. As fewer callups die of CRC, a greater proportion die of ECMs. Callups experienced non-significantly reduced mortality up to 45 years. Whilst the FAP callup system reduces CRC risk, mortality attributable to ECMs needs to be addressed.

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Section: Introductionmentioning

confidence: 99%

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confidence: 99%

Colorectal cancer: no longer the issue in familial adenomatous polyposis?

2010

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“…Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by a germline mutation of the APC gene and characterized by hundreds of colorectal adenomas with progression to cancer1, 2. Colectomy increases survival by approximately 30 years, but life expectancy is still less than in the general population, mainly due to periampullary carcinoma and desmoid disease3–5. Options for prophylactic surgery include colectomy and ileorectal anastomosis (IRA) or proctocolectomy and ileal pouch–anal anastomosis (IPAA).…”

Section: Introductionmentioning

confidence: 99%

Comparison of outcomes of ileal pouch–anal anastomosis for familial adenomatous polyposis with and without previous ileorectal anastomosis

Roon

Tekkis

Lovegrove

et al. 2008

Journal of British Surgery

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“…Intraabdominal desmoids (intra-abdominal DT) are associated with significantly poorer survival in comparison to DT confined to the abdominal wall (abdominal wall DT) [11]. Intra-abdominal DT can encase or compress structures within the abdomen leading to ischaemia and subsequent bowel perforation or renal insufficiency secondary to extrinsic ureteric compression.…”

Section: Introductionmentioning

confidence: 99%

Surgical prophylaxis in familial adenomatous polyposis: do pre-existing desmoids outside the abdominal cavity matter?

2010

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Desmoid tumours (DT) are myofibroblastic proliferations found in 10-25% of familial adenomatous polyposis (FAP) patients, either intra-abdominally (IA), in the abdominal wall (AW) or elsewhere (extra-abdominal (EA)). Most DT occur following prophylactic colectomy but occasionally patients present with pre-operative DT. Mutations 3' to codon 1444, predispose to DT and attenuated phenotype, leading to a potential strategy of delaying surgery in patients at high risk of DT. Here we assess if the existence of a pre-operative AW-DT or EA-DT predisposes to IA-DT following laparotomy. Data were collected on FAP patients undergoing primary surgery at St Mark's Hospital. Patients were stratified into those having no DT, EA-DT or AW-DT pre-operatively. Relative-risks were calculated and proportions compared using Fisher's exact-test. 587 FAP patients were identified; nine discovered with IA-DT intra-operatively were excluded. 5(0.9%) and 6(1%) of the remainder had a pre-operative EA-DT and AW-DT, respectively; one (0.2%) had both. Six of these 12 developed a post-operative IA-DT. 566(98%) had no pre-operative DT, 50(9%) of these developed IA-DT post-operatively; median time to tumour was 2 (IQR, 1-3.5) years. A pre-operative AW-DT predisposed to IA-DT post-operatively (RR = 7.6, 95% CI 4.0-14.1, P = 0.0009) whilst EA-DT did not (RR = 2.3, 0.4-13.3, P = 0.38). A 3' mutation was significantly associated with post-operative IA-DT in the 'no pre-operative DT' group (P = 0.002). The presence of a DT external to the abdominal cavity pre-operatively, poses a clinical challenge with regards to surgical decision-making. Patients with an AW-DT pre-operatively may warrant a conservative surgical approach, to minimize post-operative IA-DT risk.

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Polyposis Syndromes

Cited by 6 publications

References 85 publications

Colorectal cancer: no longer the issue in familial adenomatous polyposis?

Colorectal cancer: no longer the issue in familial adenomatous polyposis?

Comparison of outcomes of ileal pouch–anal anastomosis for familial adenomatous polyposis with and without previous ileorectal anastomosis

Surgical prophylaxis in familial adenomatous polyposis: do pre-existing desmoids outside the abdominal cavity matter?

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