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Background  Definite diagnosis of metastasis from unknown primary depends on a comprehensive immunohistochemical investigation of tumor specimen. Accurate identification of the origin site usually helps a lot in choosing the most appropriate treatment. Molecular characterization provides more chance of a cure. Echoing modern medical development,  BRCA1 / 2  mutations have been correlated with high efficiency of poly(adenosine diphosphate-ribose) polymerase inhibitors in ovarian cancer. While a previous case report demonstrated a surprising cure of platinum-resistant ovarian cancer with  BRCA2  mutation by orally administered melphalan.    Case presentation  A 53-year-old Taiwanese woman’s malignant pleural effusion was diagnosed to be a metastasis from an occult cancer in female genital organ by diligent pathological study despite absence of image evidence. She resolutely refused intravenously administered chemotherapy. After failure of anti-estrogen tamoxifen, orally administered melphalan achieved excellent complete remission. Pathogenic homozygous  BRCA1  and  BRCA2  mutations were later detected in tumor cells by next-generation sequencing. The same  BRCA2  mutation exists in a heterozygous status in the germline deoxyribonucleic acid.    Conclusions  This is so far the second report of long-term remission of advanced female genital organ cancer with  BRCA  mutations achieved by orally administered melphalan.  BRCA1 / 2  mutations and even all “BRCAness” of malignancy, at least ovarian cancer and ovarian-related cancers, probably not only correlate with high efficacy of poly(adenosine diphosphate-ribose) polymerase inhibitors but also lead to a high-potential cure by orally administered melphalan. We recommend that clinical trials that test this assumption be carefully designed and sophisticatedly performed.

journal of medical case reports

Complete response to orally administered melphalan in malignant pleural effusion from an occult female genital organ primary neoplasm with BRCA1/2 mutations: a case report