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01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Journal of Medical Case Reports 1/2018

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

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2018
Autoren:
Frank S. Fan, Chung-Fan Yang

Abstract

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.

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