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Breast metastasis from primary renal cell carcinoma is a rare entity and infrequently reported in the literature. We present a case of a 65-year-old lady who presented to breast clinic with a 4-month history of rapidly growing right sided breast lump. She previously had a left mastectomy for breast cancer and a hysterectomy for endometrial cancer. Radiological evaluation with mammography and ultrasound revealed a large heterogeneous right breast lump with prominent vascularity which was biopsied. Histopathological and immunohistochemical features were not supportive of a primary breast carcinoma and favored metastasis from a renal tumor. The patient was unfortunately admitted to hospital due to increasing confusion and neurological symptoms and underwent whole-body cross-sectional CT imaging which demonstrated a giant tumor originating from the right kidney with associated intrathoracic, breast and intracranial metastasis. She was diagnosed with eosinophilic variant metastatic renal cell carcinoma. This case highlights the importance of considering alternative diagnoses to primary breast carcinoma in the context of an initial presentation of a unilateral breast lump.

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IntroductionHuman epidermal growth factor receptor 2 (HER2) amplification is present in almost 15%–20% of breast cancer tumors, making it an important parameter for testing. The present study was designed to evaluate a chip-based digital PCR (dPCR) system for assessing HER2 amplification from formalin-fixed paraffin-embedded breast carcinoma tissue and to compare this system with immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH).Materials and methodsA total of 84 breast carcinoma tissue samples were analyzed by IHC, FISH, and chip-based dPCR in a blinded manner.ResultsAll nine IHC-positive and 35 IHC-negative samples had equivalent results with dPCR, taking an amplification ratio threshold of 1.8 as a positive result. Of the 40 IHC equivocal samples, 10 were assessed as positive, 27 as negative, and three as equivocal by dPCR.ConclusionThese results demonstrate that chip-based dPCR is suitable for HER2 amplification detection in formalin-fixed paraffin-embedded samples in a clinical setting, providing the advantages of superior turnaround time, cost-effectiveness, and increased precision with absolute quantification compared with conventional tests such as FISH and IHC. This methodology was especially beneficial in tissue samples with low DNA concentration.

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