Colorectal neoplasms detected colonoscopically in at-risk members of colorectal cancer families stratified by the demonstration of DNA microsatellite instability

Jass, Jeremy R.; Pokos, V.; Arnold, Julie; Cottier, D. S.; Jeevaratnam, Premala; Water, Neil S. Van De; Browett, Peter; Winship, Ingrid; Lane, M. R.

doi:10.1007/bf00204981

Cited by 22 publications

(7 citation statements)

References 26 publications

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“…When compared with sporadic polyps, those associated with HNPCC were more commonly located proximal to the splenic flexure of the colon, were larger, and were more often villous and dysplastic. 111,112 It is also thought that colon polyps associated with HNPCC have a more rapid progression from adenoma to carcinoma. [113][114][115][116][117] The predominant feature of HNPCC is colorectal cancer.…”

Section: Clinical-pathologic Featuresmentioning

confidence: 99%

“…111,112 It is also thought that colon polyps associated with HNPCC have a more rapid progression from adenoma to carcinoma. [113][114][115][116][117] The predominant feature of HNPCC is colorectal cancer. As compared with sporadic colorectal cancer, where 90% occur in patients older than 50 years and 70% are located distal to the splenic flexure of the colon, the mean age at colorectal cancer diagnosis in HNPCC is 44 years with 70% located proximal to the splenic flexure.…”

Section: Clinical-pathologic Featuresmentioning

confidence: 99%

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Inherited Colorectal Cancer Syndromes

Ellis

2005

Clinics in Colon and Rectal Surgery

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Colorectal cancer is one of the major causes of cancer deaths in both men and women. It is estimated that 5% to 10% of patients with colorectal cancer have an inherited germline mutation that predisposes them to cancer. Clinically, hereditary colorectal cancer syndromes can be divided into those associated with colonic polyposis (familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MYH-associated polyposis) and those not associated with colonic polyposis (hereditary nonpolyposis colon cancer).Treatment options for these patients include multiple aggressive screening regimens, chemopreventive medications, and prophylactic surgery. Selection of the appropriate management approach is best made using information obtained from the patient's clinical examination, the family medical history, and genetic evaluation. Compliance is improved when patients completely understand their disease and participate fully in the formulation of the treatment plan. Although not proved, it seems reasonable that this approach may prevent the poor outcomes so frequently associated with inherited cancer syndromes.

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Section: Clinical-pathologic Featuresmentioning

confidence: 99%

Section: Clinical-pathologic Featuresmentioning

confidence: 99%

Inherited Colorectal Cancer Syndromes

Ellis

2005

Clinics in Colon and Rectal Surgery

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“…1 9 11-14 Some reported an obvious propensity for right sided neoplastic lesions 15 while others observed a distribution of adenomas in HNPCC patients similar to that in the general population. 13 16 17 The adenoma-carcinoma sequence in HNPCC seems to be accelerated. This is especially illustrated by the relatively frequent occurrence of cancers within the first few years after a "clean" colon had been confirmed by colonoscopy.…”

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confidence: 99%

Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation

Rijcken¹

2002

Gut

151

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Background: Hereditary non-polyposis colorectal cancer (HNPCC) is thought to arise from adenomas. HNPCC mostly occurs in the proximal colon. We investigated whether this proximal preponderance is due to a proximal preponderance of adenomas or (also) differences in transformation rates from adenomas to cancer between the distal and proximal colon. Methods: A total of 100 HNPCC adenomas were evaluated and compared with 152 sporadic adenomas for location, size, and dysplasia. Twenty five adenomas from patients with a known mismatch repair (MMR) gene mutation were stained for expression of MLH1 and MSH2. Results: HNPCC adenomas were more often located proximally (50% v 26%; p=0.018) and were smaller in comparison with sporadic adenomas. They were similarly dysplastic. However, all proximal HNPCC adenomas >5 mm were highly dysplastic compared with 17% of the larger proximal sporadic polyps (p<0.001). They were also more often highly dysplastic than larger distal HNPCC adenomas (p<0.001). Small HNPCC adenomas were, except for their location, not different from sporadic adenomas. Fifteen of the 25 "known mutation" adenomas showed loss of expression of either MLH1 or MSH2. The 10 adenomas with expression were all small with low grade dysplasia. Conclusion: HNPCC adenomas are located mainly in the proximal colon. The progression to high grade dysplasia is more common in proximal than distal HNPCC adenomas, indicating a faster transformation rate from early adenoma to cancer in the proximal colon. MMR gene malfunction probably does not initiate adenoma development but is present at a very early stage of tumorigenesis and heralds the development of high grade dysplasia.

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“…Can the histopathologist recognize colorectal cancers showing DNA MSI‐H? The pathological spectrum of colorectal cancer in HMRDS differs from sporadic bowel cancer by virtue of increased proportion of both mucinous carcinomas (Figure 1) and undifferentiated carcinomas (Figure 2) 18 , 19 , 32 . The same types are also overexpressed amongst sporadic colorectal cancers showing the mutator phenotype 26 , 28 , 33 –36 .…”

Section: Diagnosis Of the Hereditary Mismatch Repair Deficiency Syndrmentioning

confidence: 99%

Diagnosis of hereditary non‐polyposis colorectal cancer

Jass

1998

Histopathology

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The term hereditary non-polyposis colorectal cancer (HNPCC) was introduced initially to encompass autosomal dominant syndromes predisposing to colorectal cancer other than the polyposes. The term is a poor descriptor and is often applied to families on the basis of inadequate information. It is suggested that 'hereditary mismatch repair deficiency syndrome' (HMRDS) should replace the term HNPCC for describing the specific autosomal dominant condition which predisposes to cancer displaying the mutator phenotype. Population-based studies have shown that HMRDS probably accounts for no more than 2% of bowel cancer. A working diagnosis of HMRDS can be made on the basis of clinical, pathological and molecular characteristics. The histopathologist has an important role to play in the recognition and diagnosis of HMRDS. The characteristic morphology of colorectal cancer in HMRDS is reviewed and the diagnostic utility of 'field changes' and adenomas is discussed critically.

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Colorectal neoplasms detected colonoscopically in at-risk members of colorectal cancer families stratified by the demonstration of DNA microsatellite instability

Cited by 22 publications

References 26 publications

Inherited Colorectal Cancer Syndromes

Inherited Colorectal Cancer Syndromes

Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation

Diagnosis of hereditary non‐polyposis colorectal cancer

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