RESUMO
Here we present a rare case of breast cancer with both invasive ductal carcinoma and choriocarcinoma components in a 55-year-old woman. Firstly, the serum human chorionic gonadotropin level showed 15.9mIU/ml preoperatively. And adequate immunohistochemical tests were performed on the specimen. Secondly, High-throughput sequencing was performed to detect the molecular characteristics of the two components, respectively. Then, DNA short tandem repeat (STR) analysis confirmed the homology of the two components, indicating the somatic origin of choriocarcinoma components. Finally, the clinical course and pathological characteristics of the case were reviewed and a literature search for other cases was performed.
RESUMO
Breast cancer with choriocarcinomatous features (BCCF) is a rare and aggressive breast cancer. BCCF carries a poor prognosis and there is unfortunately scant literature to guide treatment beyond surgical resection with most patients receiving standard regimens for breast cancer. In our case, we present a 42-year-old female with an initial hCG of 2,324 and two suspicious lesions of the right breast. On biopsy, each lesion had distinct histopathology with the larger lesion diagnosed as BCCF and the smaller lesion being an invasive ER/PR positive ductal carcinoma. The diagnosis of BCCF rather than metastatic choriocarcinoma was confirmed using DNA typing. Salvage chemotherapy targeting choriocarcinoma resulted in marked clinical and biomarker success including normalization of the hCG. After recurrent brain metastases were diagnosed, high dose chemotherapy with methotrexate was administered resulting in long term remission.
RESUMO
O presente relato descreve um caso de carcinoma mamário em paciente de 45 anos, com diferenciação coriocarcinomatosa, caracterizado por presença de células bizarras, anaplásicas, com áreas de necrose e células gigantes multinucleadas, com imunopositividade para a subunidade β da gonadotrofina coriônica humana (β-HCG) e cromogranina, medindo 5,7 cm no maior eixo, refratário ao tratamento neoadjuvante inicial. Realizada mastectomia, cujo diagnóstico após análises microscópica e imuno-histoquímica concluiu tratar-se de carcinoma com características coriocarcinomatosas. Tais lesões são raras, capazes de sintetizar substâncias hormonais não próprias ao tecido mamário, sendo o diagnóstico de grande importância para a abordagem terapêutica e prognóstica, pois constituem um grupo de lesões potencialmente agressivas.
This report describes the case of a 45 year-old patient with breast carcinoma characterized by choriocarcinomatous features, presence of bizarre anaplastic cells with areas of necrosis and multinucleated giant cells. The immuno-histochemical analysis showed positivity for chromogranin and β-HCG. The tumor size was 5.7 cm at the largest axis and it was refractory to initial neo-adjuvant treatment. Mastectomy was performed and after microscopic and immuno-histochemical examination it was diagnosed as carcinoma with choriocarcinomatous features. These lesions are rare and liable to synthesize hormonal substances not specific to breast tissue. Its diagnosis is highly significant to the therapeutic and prognostic approach insofar as these lesions are potentially aggressive.
