Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0278488 (metastatic breast cancer)
 7,812 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The risk of developing a second primary cancer is increased in patients with breast cancer, and the lung is one of the major sites involved. Moreover, the lung is the major metastatic site for breast cancers. A distinction between metastatic breast cancer and primary lung cancer can be histologically difficult, and both show an overlapping CK7+/CK20- immunoprofile in a majority of cases. The degree of difficulty increases with poorly differentiated tumors. We investigated differential expressions of TTF-1, Napsin A, surfactant apoprotein A, estrogen receptor, GATA-3, mammaglobin, and GCDFP-15 immunostains in 197 pulmonary carcinomas (158 adenocarcinomas, 39 squamous) and 115 invasive mammary carcinomas (91 ductal, 24 lobular type). In mammary carcinomas, estrogen receptor, GATA-3, mammaglobin, and GCDFP-15 were expressed in 74, 72, 64, and 62%, respectively, whereas TTF-1, Napsin A, and surfactant apoprotein A were all negative. The expressions were diffuse in estrogen receptor and GATA-3, and variable in mammaglobin and GCDFP-15. For a combination of estrogen receptor/mammaglobin or GATA-3/mammaglobin, 83% of mammary carcinomas were positive, and the detection rate was not improved by using all three markers. All lung squamous cell carcinomas were negative for all markers studied. TTF-1, Napsin A, and surfactant apoprotein A were positive in 80, 77, and 45% of pulmonary adenocarcinomas. None of the TTF-1-negative tumors expressed surfactant apoprotein A. GCDFP-15 was focally expressed in 2.5% of pulmonary adenocarcinomas, and estrogen receptor was focally expressed in one case (1.2%) of pulmonary adenocarcinoma. When metastasis from breast cancer is suspected in the lung, a combination of either estrogen receptor/mammaglobin or GATA-3/mammaglobin as breast markers, and a combination of TTF-1 and Napsin A as lung markers may be helpful for differentiating between the two. Caution should be taken in the interpretation of GCDFP-15 due to its occasional expression in pulmonary adenocarcinomas.
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PMID:A study of immunohistochemical differential expression in pulmonary and mammary carcinomas. 2017 33

The thyroid gland is an uncommon site for metastasis to develop and thus metastases arising from breast cancer are rarely observed. In the present study, we describe a case of a 45-year-old female with a three-year history of breast cancer who presented with a thyroid mass that was diagnosed as metastatic breast carcinoma by histopathological analysis of the subtotal thyroidectomy specimen. To ascertain the diagnosis of metastatic breast cancer, we evaluated two types of markers; those that possessed a similar expression status in the original and metastatic lesions [ER, PR and CerbB-2 (HER2/neu)], and those that are capable of differentiating between metastatic lesions and the surrounding thyroid components (TG and TTF-1). The results showed that ER, PR and CerbB-2 demonstrated a similar expression pattern in primary breast carcinoma and thyroid lesions. Meanwhile, in the thyroid lesions, the malignant cells showed negative staining for TG and TTF-1, which confirmed that lesions were not thyroid in origin. This case may prompt clinicians that although thyroid gland are uncommon metastatic site, a diagnosis of metastatic disease should be considered when new aggregates are identified in the thyroid glands and histopathological analysis may aid the diagnosis.
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PMID:Thyroid gland metastasis arising from breast cancer: A case report. 2383 51

Next-generation sequencing of primary and metachronous metastatic cancer lesions may impact patient care. We present a case of relapsed metastatic breast cancer with a dominant pulmonary lesion originally identified as lung adenocarcinoma. A 72-year-old, never-smoker woman with a protracted cough was found to have a large lung mass and regional lymphadenopathy on a chest CT. Lung mass biopsy showed adenocarcinoma with focal TTF-1 (thyroid transcription factor 1) positivity, favoring a lung primary. In addition to stereotactic brain radiation for cerebral metastases, she was started on carboplatin/pemetrexed. As part of the workup, the tumor was analyzed by a 50-gene targeted mutation panel, which detected 3 somatic mutations: ERBB2 (HER2) D769H activating missense mutation, TP53 Y126 inactivating truncating mutation, and SMARCB1 R374Q missense mutation. Of note, the patient had a history of stage IIA triple-negative grade 3 invasive ductal carcinoma of the left breast 1.5 years ago and received neoadjuvant chemotherapy and adjuvant radiation, and underwent a lumpectomy. Further analysis of her primary breast tumor showed a mutational profile identical to that of the lung tumor. Fluorescence in situ hybridization revealed HER2 amplification in the lung tumor, with a HER2/CEP17 ratio of 3.9. The patient was diagnosed with recurrent HER2-positive metastatic breast carcinoma with a coexisting ERBB2 (HER2) activating mutation. Chemotherapy was adjusted to include dual HER2-targeted therapy containing trastuzumab and pertuzumab, resulting in an ongoing partial response. This case demonstrates that a unique genetic mutational profile can clarify whether a tumor represents a metastatic lesion or new malignancy when conventional morphological and immunohistochemical methods are indeterminate, and can directly impact treatment decisions.
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PMID:Cancer Signature Investigation: ERBB2 (HER2)-Activating Mutation and Amplification-Positive Breast Carcinoma Mimicking Lung Primary. 2628 40

A 59-year-old woman with a remote history of invasive ductal carcinoma of the breast was found on a follow-up computed tomography scan of her brain to have a 1-cm lesion in the right frontal lobe in 2008. In the ensuing years, before her current admission, multiple imaging studies of the brain revealed that the lesion was stable and it was, therefore, interpreted as a small area of encephalomalacia related to a thrombosed cortical vein, a cavernoma, or treated metastatic breast cancer. In 2013, the patient underwent a bilateral salpingo-oophorectomy for ovarian tumors that were diagnosed as bilateral serous cystadenofibromas. A partial omentectomy showed no evidence of implants. In June 2016, the brain lesion was completely excised and diagnosed as an atypical proliferative (borderline) serous tumor. Immunohistochemical staining demonstrated that the tumor cells were immunoreactive for Pax8, WT-1, ER, and CK-7 and negative for Gata-3, PR, TTF-1, CDX-2, Napsin A, and CK-20, which was consistent with that diagnosis. We present a brief review of possible mechanisms to account for this unusual presentation and speculate that the most likely one is exfoliation of fallopian tube epithelial cells into the peritoneal cavity, which then gain access to lymphatics resulting in cells implanting in the brain and subsequently progressing to an atypical proliferative (borderline) serous tumor.
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PMID:Atypical Proliferative (Borderline) Serous Tumor in the Brain: A Case Report. 2870 Apr 21