Pure large cell neuroendocrine carcinoma of the ovary with a somatic BRCA1 mutation: the first reported case and the review of the literature

Abstract

Pure large cell neuroendocrine carcinomas (pLCNEC) of the ovary are extremely rare, so there is a lack of molecular information on this type of cancer. Herein, we presented a pure primary LCNEC of the ovary with a pathogenic somatic mutation at the c.5332 + 1g > a splice site of the BRCA1 gene. To the best of our knowledge, this is the first report of a BRCA1 somatic mutation found in the ovary LCNEC. Testing BRCA1/2 mutations in patients with ovarian LCNEC might be worth considering, as these patients may benefit from the targeted treatment. We present a unique case that expands our understanding of this rare entity.