Complete Response to Immune Checkpoint Inhibition in a Platinum Resistant Primary Ovarian Cancer Patient With Lynch Syndrome: A Case Report and Review of the Literature

Background/aim: Lynch syndrome (LS) is the secondary cause of hereditary ovarian cancer (OC). Germline mutations in the DNA-mismatch repair (MMR) genes cause tumorigenesis and a high immunogenicity. Recent studies showed a promising use of immunotherapy in MMR deficient (MMRd) tumors. This is a case report of a patient with LS-associated OC and a complete response to pembrolizumab.

Case report: A 44-year-old patient was admitted to the hospital with lower abdominal pain. The patient's history showed LS with a germline mutation in the MSH2-gene. Initial diagnostics showed a pelvic tumor mass and a highly elevated cancer antigen 125. After debulking surgery, histopathological findings showed a high-grade serous OC with mutations in the MSH2 and MSH6 genes. Only 5 weeks after operation with no residual tumor mass, a quick and significant intraabdominal progression of the disease was diagnosed. Adjuvant therapy with carboplatin and paclitaxel in a weekly course did not lead to sustainable response. An anti-PD-L1 antibody therapy with pembrolizumab was initiated. After only two courses of therapy, the laboratory results and clinical status of the patient improved tremendously. Shortly after, a complete response was detected, and therapy is still ongoing. The patient remains tumor free for 21 months now.

Conclusion: The significance of germline compared to somatic mutations has not yet been sufficiently investigated. To our knowledge, this is the first case with complete response to checkpoint inhibition in OC associated with LS. Regarding LS-associated OC, immune checkpoint inhibition is an efficient therapy in tumors nonresponsive to standard therapy.