Journal
BULLETIN DU CANCER
Volume 104, Issue 1, Pages 42-51Publisher
ELSEVIER MASSON, CORP OFF
DOI: 10.1016/j.bulcan.2016.11.006
Keywords
Mismatch repair deficiency; Lynch syndrome; Immune checkpoint; Nivolumab; Endometrial cancer; Colorectal cancer
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Microsatellite instability (MSI) is a tumor phenotype linked to somatic or germline (Lynch syndrome) inactivating alterations of DNA mismatch repair genes. A broad spectrum of neoplasms exhibits MSI phenotype, mainly colorectal cancer, endometrial cancer, and gastric cancer. MSI tumors are characterized by dense immune infiltration and high load of tumor neo-antigens. Growing evidence is accumulating on the efficacy of immune checkpoint inhibition for patients treated for MSI solid tumors. We present a comprehensive overview of MSI phenotype, its biological landscape and current diagnostic methods. Then we focus on MSI as a predictive biomarker of response to immune checkpoint inhibition in the context of colorectal cancer and non-colorectal tumors.
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