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Microsatellite Instability Occurs in a Subset of Follicular Thyroid Cancers
Luke K Genutis1, Jerneja Tomsic2, Ralf A Bundschuh3
11 Department of Cancer Biology and Genetics, The Ohio State University Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio.
Background:
Inactivation of DNA mismatch repair (MMR) and the resulting microsatellite instability (MSI) are frequently observed in endometrial, stomach, and colorectal cancers, as well as more rarely in other solid tumor types. The prevalence of MSI in thyroid cancer has not been explored in depth, although recent studies utilizing data from large cancer sequencing efforts such as The Cancer Genome Atlas indicate that MSI is absent or at least very rare in the most common and most well studied histologic subtype, papillary thyroid carcinoma. This study aimed to determine the prevalence of MSI in thyroid cancer by using a large series comprising all major histological subtypes.
Methods:
A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 papillary thyroid carcinoma, 156 follicular thyroid carcinoma [FTC], 50 anaplastic thyroid carcinoma, 65 medullary thyroid carcinoma, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.
Results:
A total of four tumors were MSI-high and had loss of MMR protein expression, all of which were from FTC patients. Whole-exome sequencing was performed on two MSI-high FTCs and revealed a hemizygous loss of function mutation in MSH2 in one tumor.
Conclusions:
Based on these data, it is estimated that the overall prevalence of MSI in FTC is 2.5%, and MSI is either entirely absent or rare in other histology subtypes of thyroid carcinoma. These findings highlight the importance of testing for MSI in FTC.
Insights
Microsatellite instability (MSI) is rare in most thyroid cancers but occurs in 2.5% of follicular thyroid carcinomas (FTC). Testing for MSI is important in FTC, as it may indicate underlying DNA mismatch repair deficiency.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- DNA mismatch repair (MMR) inactivation leads to microsatellite instability (MSI), common in several cancers.
- MSI is rare in papillary thyroid carcinoma, the most common subtype.
- Prevalence of MSI across all thyroid cancer subtypes requires further investigation.
Purpose of the Study:
- To determine the prevalence of MSI in all major histological subtypes of thyroid cancer.
- To investigate the potential link between MSI and MMR deficiency in thyroid malignancies.
Main Methods:
- Screened 485 thyroid cancer patients across all major histologic subtypes for MSI/MMR deficiency.
- Utilized polymerase chain reaction, immunohistochemistry, and next-generation sequencing.
- Performed whole-exome sequencing on MSI-high tumors.
Main Results:
- Four tumors (0.8%) were MSI-high with loss of MMR protein expression.
- All MSI-high tumors originated from follicular thyroid carcinoma (FTC) patients.
- One MSI-high FTC showed a hemizygous loss of function mutation in MSH2.
Conclusions:
- The overall prevalence of MSI in FTC is estimated at 2.5%.
- MSI is rare or absent in other thyroid carcinoma histology subtypes.
- Testing for MSI is clinically relevant in FTC.
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