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Microsatellite instability in multiple colorectal tumors.

M Pedroni¹, M G Tamassia, A Percesepe

¹Dipartimento di Medicina Interna, Universitá di Modena, Italy.

International Journal of Cancer

|March 17, 1999

Summary

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Multiple colorectal tumors can indicate hereditary non-polyposis colorectal cancer (HNPCC). Microsatellite instability (MSI) testing in these tumors aids in identifying HNPCC, distinguishing it from sporadic cases.

Area of Science:

Oncology
Genetics
Cancer Research

Background:

Tumor multiplicity is characteristic of hereditary cancers, with multiple colorectal tumors accounting for 5-10% of cases.
Hereditary non-polyposis colorectal cancer (HNPCC), caused by mismatch repair (MMR) gene mutations, presents as microsatellite instability (MSI).
Many multiple colorectal tumors lack a clear family history, suggesting other underlying genetic factors.

Purpose of the Study:

To investigate a common genetic basis for multiple colorectal tumors in both HNPCC and sporadic cases.
To analyze the prevalence and patterns of microsatellite instability (MSI) in multiple colorectal neoplasms.
To evaluate the utility of MSI screening for identifying HNPCC in patients with multiple tumors.

Main Methods:

Related Experiment Videos

Analysis of 78 neoplasms (38 synchronous, 40 metachronous) from 37 patients with multiple large bowel tumors.

DNA extraction from normal and cancerous formalin-fixed tissues.

Microsatellite instability (MSI) analysis using 6 markers; MSI(+) defined as instability in at least 2 of 6 loci.

Main Results:

Overall, 28.2% (22/78) of tumors were MSI(+).
A significant difference in MSI(+) rates was observed between HNPCC (85%) and sporadic tumors (17%).
Synchronous tumors showed greater MSI phenotype concordance than metachronous tumors.

Conclusions:

The higher frequency of MSI in HNPCC compared to sporadic multiple tumors suggests MMR gene involvement is less common in sporadic cases.
Screening for MSI in multiple colorectal tumors is a valuable tool for identifying HNPCC within the general population.