Occult breast cancer presenting as metastatic adenocarcinoma of unknown primary: Clinical presentation, immunohistochemistry, and molecular analysis

Jue Wang, Geoffrey A Talmon, Jordan H. Hankins, Charles Arthur Enke

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1 Citation (Scopus)

Abstract

We report a rare presentation of a 66-year-old female with diffuse metastatic adenocarcinoma of unknown primary involving liver, lymphatic system and bone metastases. The neoplastic cells were positive for CK7 and OC125, while negative for CK20, thyroid transcription factor 1, CDX2, BRST-2, chromogranin, synaptophysin, estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2/neu). Fluorescence in situ hybridization showed no amplification of the HER2/neu gene. Molecular profiling reported a breast cancer origin with a very high confidence score of 98%. The absence of immunohistochemistry staining for ER, PR, and HER2/neu further classified her cancer as triple-negative breast cancer. Additional studies revealed high expression levels of topoisomerase (Topo) I, androgen receptor, and ribonucleoside-diphosphate reductase large subunit; the results were negative for thymidylate synthase, Topo II-α and O6-methylguanine-DNA methyltransferase. The patient was initially treated with a combination regimen of cisplatin and etoposide, and she experienced a rapid resolution of cancer-related symptoms. Unfortunately, her therapy was complicated by a cerebrovascular accident (CVA), which was thought to be related to cisplatin and high serum mucin. After recovery from the CVA, the patient was successfully treated with second-line chemotherapy based on her tumor expression profile. We highlight the role of molecular profiling in the diagnosis and management of this patient and the implication of personalized chemotherapy in this challenging disease.

Original languageEnglish (US)
Pages (from-to)9-16
Number of pages8
JournalCase Reports in Oncology
Volume5
Issue number1
DOIs
StatePublished - Jan 1 2012

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erbB-2 Genes
Adenocarcinoma
Immunohistochemistry
Progesterone Receptors
Breast Neoplasms
Estrogen Receptors
Cisplatin
Ribonucleoside Diphosphate Reductase
Stroke
Triple Negative Breast Neoplasms
Chromogranins
Drug Therapy
Lymphatic System
Thymidylate Synthase
Neoplasms
Type II DNA Topoisomerase
Type I DNA Topoisomerase
Synaptophysin
Methyltransferases
Androgen Receptors

Keywords

  • Carcinoma of unknown primary
  • Immunohistochemistry
  • Molecular profiling
  • Triple-negative breast cancer

ASJC Scopus subject areas

  • Oncology

Cite this

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title = "Occult breast cancer presenting as metastatic adenocarcinoma of unknown primary: Clinical presentation, immunohistochemistry, and molecular analysis",
abstract = "We report a rare presentation of a 66-year-old female with diffuse metastatic adenocarcinoma of unknown primary involving liver, lymphatic system and bone metastases. The neoplastic cells were positive for CK7 and OC125, while negative for CK20, thyroid transcription factor 1, CDX2, BRST-2, chromogranin, synaptophysin, estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2/neu). Fluorescence in situ hybridization showed no amplification of the HER2/neu gene. Molecular profiling reported a breast cancer origin with a very high confidence score of 98{\%}. The absence of immunohistochemistry staining for ER, PR, and HER2/neu further classified her cancer as triple-negative breast cancer. Additional studies revealed high expression levels of topoisomerase (Topo) I, androgen receptor, and ribonucleoside-diphosphate reductase large subunit; the results were negative for thymidylate synthase, Topo II-α and O6-methylguanine-DNA methyltransferase. The patient was initially treated with a combination regimen of cisplatin and etoposide, and she experienced a rapid resolution of cancer-related symptoms. Unfortunately, her therapy was complicated by a cerebrovascular accident (CVA), which was thought to be related to cisplatin and high serum mucin. After recovery from the CVA, the patient was successfully treated with second-line chemotherapy based on her tumor expression profile. We highlight the role of molecular profiling in the diagnosis and management of this patient and the implication of personalized chemotherapy in this challenging disease.",
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