Long-term survival of patients with mismatch repair-deficient, high-stage ovarian clear cell carcinoma (MSH2/6)

abstract:
Long-term survival of patients with mismatch repair-deficient, high-stage ovarian clear cell carcinoma 
 21 JUL 2016

Aims

Gynaecological cancer patients with germline mutations appear to have a better prognosis than those with sporadic malignancies. Following the observation of long-term survival in a patient with stage III ovarian clear cell carcinoma (CCC) and possible Lynch syndrome (LS), DNA mismatch repair (MMR) protein immunohistochemistry was performed in a series of high-stage CCC and correlated with patient outcomes.

Methods and Results

Thirty-two consecutive cases of stage III/ IV ovarian CCCs accessioned between 1992 and 2015 were examined. The tumours from two patients (6%), including the index case, showed loss of MSH2/MSH6 expression while MLH1/PMS2 staining was retained. The index patient subsequently developed colonic and rectal carcinomas that were also MSH2/MSH6 deficient while the second patient had a genetically confirmed germline MSH2 mutation. All other tumours showed retained expression of the four MMR proteins. The two patients with MMR protein-deficient tumours were alive 160 months and 124 months following surgery whereas the median survival of patients with MMR protein-intact CCCs was 11.8 months (75^th and 25^th percentiles of 8.1 months and 39.3 months, respectively), with 21 patients deceased due to tumour.

Conclusions

Larger studies are required but high-stage, MMR protein-deficient CCCs may have a relatively favourable prognosis.