E-ISSN: 1019-5157 ISSN: 2651-5024
Research

Evaluation of Microsatellite Instability in Chordomas

HÜSEYİN BOZKURT , EFE YETİŞGİN
DOI: 10.5137/1019-5149.JTN.50662-25.2 Article in Press

Abstract

Aim
Chordomas (CH) are malignant bone neoplasms with notochordial origin accepted to arise from the notochord reminants. Their response to chemotherapy is poor and this is an important limitation for treatment. Microsatellite instability (MSI) screening is an important tool to detect DNA mismatch repair function and it is an important method both for prognostic and therapeutic purposes. It is a standard test in colorectal cancers and also widely used for some other neoplasms inluding glial tumors to define treatment strategies. In this study, considering its prognostic and therapeutic importance, we aimed to evaluate the possible involvement of MSI in chordomas by using immunohistochemistry.

Material and Methods
Patients operated in neurosurgery department in Ankara Etlik City Hospital were reviwed and the cases with histopathological diagnosis of chordoma are documanted. MSI panel was composed of MLH1, PMS2, MSH2, MSH6 antibodies. Patient ages ranged between 7 and 78. Male to female ratio was 15/11. Among 26 casese 17 were convantional chordoma, 7 were chordoid chordoma and 2 were dedifferentiated chordoma. Immunohistochemical analysis of MLH1, PMS2, MSH2, MSH6 antibodies did not demonstrate any loss in expression of these proteins.

Results
In this study, we evaluated the expression of mismatch repair (MMR) proteins in chordomas by immunohistochemistry and found no evidence of protein loss, indicating the absence of microsatellite instability (MSI).

Conclusion
MSI does not play a role in the molecular pathogenesis of chordomas, and that other genetic and epigenetic mechanisms underlie their development.

Keywords

Chordoma Bone Neoplasms Germline Mutation Notochord Prognosis