Adenocarcinoma of the small bowel in Lynch syndrome II

Lynch, Henry T.; Smyrk, Thomas C.; Lynch, Patrick M.; Lanspa, Stephen J.; Boman, Bruce M.; Ens, Julie; Lynch, Jane F.; Strayhorn, Patty; Carmody, Thomas; Cristofaro, Giuseppe

doi:10.1002/1097-0142(19891115)64:10<2178::aid-cncr2820641033>3.0.co;2-0

Cited by 62 publications

(14 citation statements)

References 20 publications

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“…Consistent with colorectal cancer, 10% to 15% of cases of adenocarcinomas of the small intestine exhibit high microsatellite instability indicative of DNA mismatch repair dysfunction (42). Most germ line mutations reside at hMLH1 and hMSH2 loci (43). Individuals affected with hereditary nonpolyposis colorectal cancer are at increased risk of developing extra-colonic carcinomas in the small intestine, endometrium, pancreas, renal pelvis, stomach, liver and biliary tract, and ovary, and central nervous system gliomas.…”

Section: Morphology and Molecular Characteristics Of Enteric Neoplasmsmentioning

confidence: 99%

The Epidemiology and Pathogenesis of Neoplasia in the Small Intestine

Schottenfeld

Beebe‐Dimmer

Vigneau

2009

Annals of Epidemiology

260

184

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PURPOSE: The mucosa of the small intestine encompasses about 90% of the luminal surface area of the digestive system, but only 2% of the total annual gastrointestinal cancer incidence in the United States. METHODS: The remarkable contrast in age-standardized cancer incidence between the small and large intestine has been reviewed with respect to the cell type patterns, demographic features, and molecular characteristics of neoplasms. RESULTS: Particularly noteworthy is the predominance of adenocarcinoma in the colon, which exceeds 98% of the total incidence by cell type, in contrast to that of 30% to 40% in the small intestine, resulting in an age-standardized ratio of rates exceeding 50-fold. The prevalence of adenomas and carcinomas is most prominent in the duodenum and proximal jejunum. The positive correlation in global incidence rates of small and large intestinal neoplasms and the reciprocal increases in risk of second primary adenocarcinomas suggest that there are common environmental risk factors. The pathophysiology of Crohn inflammatory bowel disease and the elevated risk of adenocarcinoma demonstrate the significance of the impaired integrity of the mucosal barrier and of aberrant immune responses to luminal indigenous and potentially pathogenic microorganisms. CONCLUSION: In advancing a putative mechanism for the contrasting mucosal susceptibilities of the small and large intestine, substantial differences are underscored in the diverse taxonomy, concentration and metabolic activity of anaerobic organisms, rate of intestinal transit, changing pH, and the enterohepatic recycling and metabolism of bile acids. Experimental and epidemiologic studies are cited that suggest that the changing microecology, particularly in the colon, is associated with enhanced metabolic activation of ingested and endogenously formed procarcinogenic substrates.

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Section: Morphology and Molecular Characteristics Of Enteric Neoplasmsmentioning

confidence: 99%

The Epidemiology and Pathogenesis of Neoplasia in the Small Intestine

Schottenfeld

Beebe‐Dimmer

Vigneau

2009

Annals of Epidemiology

260

184

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“…Lynch et al [6] identified nine individuals with small bowel adenocarcinoma from eight HNPCC extended pedigrees. In this series the average age at onset was 47 years, with lesions occurring in the jejunum (n = 6), ileum (n = 2), and duodenum (n = 1).…”

Section: Discussionmentioning

confidence: 99%

“…Aarnio et al [3], however, reviewed a larger cohort of 360 mutation carriers and found no cases of small bowel cancer. Cohort studies have reviewed the clinical pattern of small bowel cancers in HNPCC patients [4][5][6]. In addition to these larger series, many isolated case reports describe this association [7,8] Capsule endoscopy (CE) allows direct visualization of the entire small bowel with excellent safety and patient satisfaction [9].…”

Section: Introductionmentioning

confidence: 99%

Metachronous Small Bowel Adenocarcinomas Detected by Capsule Endoscopy in a Patient with Hereditary Nonpolyposis Colorectal Cancer

2007

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“…Moreover, the occurrence of a small bowel cancer in IV-11 and a ureteric cancer in IV 12, both very rare in the general population, are characteristic of the Lynch II phenotype. [22][23][24][25] The most peculiar feature of the Muir-Torre syndrome is the apparently indolent course of the cancers and the resulting relatively good prognosis. While no studies have directly addressed this phenomenon, a retrospective review of 120 persons showing the Muir-Torre phenotype estimated the median survival after first diagnosis of malignancy to be 12 years.…”

Section: Discussionmentioning

confidence: 99%

Muir-Torre syndrome: a variant of the cancer family syndrome.

Hall

Williams²,

Murday³

et al. 1994

Journal of Medical Genetics

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Muir-Torre syndrome is characterised by the association of sebaceous tumours of the skin with internal malignancy. In many instances there is a strong family history of cancer and the autosomal dominant mode of inheritance, tumour spectrum, and high incidence of synchronous and metachronous tumours show parallels with the cancer family syndrome or Lynch II syndrome. We report a five generation family with at least two persons displaying the Muir-Torre phenotype, while many other family members have had tumours consistent with cancer family syndrome. The majority of tumours are gastrointestinal, gynaecological, and urological, with several persons having multiple primaries. The prognosis appears to be better than would be expected. Sebaceous tumours are a marker for internal malignancy and should prompt a search for occult cancer in the individual person and family members. In documented Muir-Torre families, at risk persons should be entered into screening programmes similar to those used in the Lynch II syndrome.

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Adenocarcinoma of the small bowel in Lynch syndrome II

Cited by 62 publications

References 20 publications

The Epidemiology and Pathogenesis of Neoplasia in the Small Intestine

The Epidemiology and Pathogenesis of Neoplasia in the Small Intestine

Metachronous Small Bowel Adenocarcinomas Detected by Capsule Endoscopy in a Patient with Hereditary Nonpolyposis Colorectal Cancer

Muir-Torre syndrome: a variant of the cancer family syndrome.

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