Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability.

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Publication year
2006Source
Modern Pathology, 19, 12, (2006), pp. 1624-1630ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Pathology
Journal title
Modern Pathology
Volume
vol. 19
Issue
iss. 12
Page start
p. 1624
Page end
p. 1630
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders; NCEBP 1: Molecular epidemiology; NCMLS 3: Growth and differentiation; NCMLS 6: Genetics and epigenetic pathways of disease; ONCOL 1: Hereditary cancer and cancer-related syndromes; ONCOL 2: Age-related aspects of cancer; ONCOL 3: Translational research; UMCN 1.2: Molecular diagnosis, prognosis and monitoring; NCMLS 3: Growth and differentiationAbstract
A high degree of microsatellite instability (MSI) in colorectal cancer (CRC) is a hallmark of hereditary non-polyposis colorectal cancer (HNPCC), caused by germline defects in the mismatch repair (MMR) genes. A low degree of instability (less than 30% of the microsatellites) is seen in a subset of tumors. To clarify the significance of this low degree of MSI phenotype, we studied the differences between patients with colorectal tumors with high-level, low-level and no MSI. Colorectal tumors with no (n = 68) and low-level (n = 18) MSI of patients clinically suspected of HNPCC were compared to colorectal tumors with high-level MSI (n = 12) of patients that carry a pathogenic germline mutation in a MMR gene. Compared to tumors with no MSI, tumors with low-level MSI were classified more frequently as stage T3 or T4 (100% vs 68% respectively), and showed less immune response (P = 0.02). No significant differences in familial CRC risk were found by comparing pedigrees of these two groups of tumors. Compared to the group of tumors with high-level MSI, the group of tumors with low-level MSI had a less suspicious family history, a higher percentage of lymph node metastasis (56 vs 17%), and less immune response. Thus, with respect to genetic risks, familial CRC can be divided into two groups: Tumors with high-level MSI and tumors with low-level or no MSI. However, tumors with low-level MSI show unfavorable pathological characteristics compared to tumors with no and tumors with high-level MSI. These differences suggest a distinct underlying biology of CRC with low-level MSI.
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- Academic publications [205105]
- Electronic publications [103310]
- Faculty of Medical Sciences [81055]
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