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Query: UMLS:C0006142 (breast cancer)
 160,383 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Metaplastic carcinomas of the breast are uncommon lesions and account for < 5% of all breast malignancies. A type of metaplastic carcinoma is carcinosarcoma, an even more rare lesion. We present a case of carcinosarcoma in association with Von Recklinghausen's disease in a 60-year-old woman. Von Recklinghausen's disease is an autosomal dominant disorder that is localized at the long arm of chromosome 17 and affects 1 in 4000 individuals. There are few reports on breast tumor development and incidence in patients with Von Recklinghausen's disease. To our knowledge, there has been no report of breast carcinosarcoma associated with Von Recklinghausen's disease. We comment on the difficulties of diagnosis and treatment and the possibility of breast tumors occurring more frequently in patients with Von Recklinghausen's disease.
Clin Breast Cancer 2007 Apr
PMID:Metaplastic breast carcinoma in a patient with Von Recklinghausen's disease. 1750 68

Metaplastic carcinoma of the breast (MCB) is a poorly understood subtype of breast cancer. It is generally characterized by the coexistence of ductal carcinomatous and transdifferentiated sarcomatous components, but the underlying molecular alterations, possibly related to epithelial-mesenchymal transition (EMT), remain elusive. We performed transcriptional profiling using half-a-genome oligonucleotide microarrays to elucidate genetic profiles of MCBs and their differences to those of ductal carcinoma of breasts (DCBs) using discarded specimens of four MCBs and 34 DCBs. Unsupervised clustering disclosed distinctive expression profiles between MCBs and DCBs. Supervised analysis identified gene signatures discriminating MCBs from DCBs and between MCB subclasses. Notably, many of the discriminator genes were associated with downregulation of epithelial phenotypes and with synthesis, remodeling and adhesion of extracellular matrix, with some of them have known or inferred roles related to EMT. Importantly, several of the discriminator genes were upregulated in a mutant Snail-transfected MCF7 cell known to exhibit features of EMT, thereby indicating a crucial role for EMT in the pathogenesis of MCBs. Finally, the identification of SPARC and vimentin as poor prognostic factors reinforced the role of EMT in cancer progression. These data advance our understanding of MCB and offer clues to the molecular alterations underlying EMT.
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PMID:Molecular signatures of metaplastic carcinoma of the breast by large-scale transcriptional profiling: identification of genes potentially related to epithelial-mesenchymal transition. 1760 61

Spindle cell lesions of the breast represent an interesting diagnostic problem, as the differential diagnoses are wide. Diagnosing this is particularly problematic but important when encountered in a needle core biopsy, as treatments of different entities are different. In the histologic assessment of spindle cell lesions, the simplified approach is to evaluate the spindle cells and the accompanying epithelial cells. In the biphasic lesions with predominance of spindle cells with benign epithelial component, fibroepithelial lesions including fibroadenomas and phyllodes tumors are the most common, followed by pseudoangiomatous stromal hyperplasia, hamartoma and adenomyoepithelioma. For biphasic lesions with predominance of spindle cells with malignant epithelial component, the biphasic metaplastic carcinoma is likely. For monophasic lesions with pure pleomorphic spindle cell only, the monophasic metaplastic carcinoma is more common than the rare primary sarcomas like malignant fibrous histiocytoma, angiosarcoma, and other high grade sarcomas. In monophasic lesions with pure bland spindle cells only, the possible lesions include fibromatosis, fibromatosis like metaplastic carcinoma and other unusual conditions like dermatofibrosarcoma protuberance. By careful searching for the accompanying epithelial element, and with the aid of appropriate clinical input and judicious use of immunohistochemistry, many of these lesions can be confidently diagnosed in the needle core biopsy, thus facilitating appropriate treatments.
Breast Cancer Res Treat 2008 May
PMID:Spindle cell lesions of the breast--the pathologic differential diagnosis. 1763

Carcinosarcoma of the breast, often referred to as metaplastic carcinoma of the breast, is a rare malignancy with two distinct cell lines described as a breast carcinoma of ductal type with a sarcoma-like component. Clinically, carcinosarcoma of the breast is an aggressive breast cancer. The prognosis for carcinosarcoma of the breast is less favorable compared to more common types of breast cancer such as infiltrating ductal or lobular carcinoma. Currently, the evaluation of breast carcinoma includes hormone receptor analysis of the tumor tissue, with those positive for estrogen or progesterone responding better to both hormonal and chemotherapy.Trastuzumab (Herceptin(R)) is available as an adjunct treatment for tumors which over-express the HER2/neu gene. Typically, metaplastic carcinomas of the breast do not express the estrogen or progesterone receptors and do not over-express the HER2/neu oncogene. As a result of this "triple negative" phenotype, such tumors tend to be more aggressive and are unlikely to respond to targeted therapy with Herceptin. The epidermal growth factor receptor HER-1/EGFR protein is expressed in the majority of metaplastic carcinomas and thus may serve as a potential therapeutic target for EGFR inhibitors such as gefitinib and cetuximab. The two cases we describe exemplify the aggressive nature of carcinosarcoma of the breast and support the findings that this tumor type does not express the common receptors found in other breast carcinomas. These case reports also emphasize the need for investigating the role for blockade of the HER-1/EGFR receptor with targeted therapies when found to be over-expressed in the primary tumor.
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PMID:Carcinosarcoma of the breast: two case reports and review of the literature. 1912 25

This case report describes a 35-year-old woman who was diagnosed with mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast. Genetic analysis of blood DNA revealed a common founder mutation, BRCA1 5382insC. Examination of microdissected tumor samples determined that both epithelial and mesenchymal components contained deletion of the wild-type BRCA1 allele. This report exemplifies that even very uncommon breast tumor types may develop through biallelic inactivation of BRCA1 gene, that has to be considered in the genetic testing settings.
Breast Cancer 2011 Apr
PMID:Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier. 1935 Mar 56

Breast cancer has various histological types that reflect not only morphological features but also biological characteristics. Therefore, it is not an exaggeration to say that breast cancers of different histological types are different diseases. It is generally accepted that the histological types of breast cancer are clinically significant because they serve as prognosticators and as the common language for improving the accuracy of clinical diagnosis. It is necessary to diagnose breast cancer at the level of not only histological findings by needle biopsy, but also the histologic type based on diagnostic imaging and cytological diagnosis. From the viewpoint of treatment, preoperative drug therapy is being performed more frequently to shrink tumors before breast-conserving therapy or to determine treatment sensitivity. The prognosis is favorable for patients who respond completely or patients in whom interstitial infiltration is completely eliminated histopathologically, and, as a result, it is important to assess therapeutic efficacy clinically and pathologically. Past experience has shed some light on differentiating cancers responsive to drug therapy from those unresponsive to drug therapy, as well as differentiating cancers in which therapeutic efficacy can be easily ascertained from those in which therapeutic efficacy cannot be easily ascertained. Preoperative drug therapy can be planned by making a histological diagnosis based on needle biopsy findings. Preoperative drug therapy is not indicated for noninvasive carcinoma and papillotubular carcinoma (invasive carcinoma with predominant intraductal components). While complete loss of interstitial infiltration can be expected with solid-tubular carcinoma, it cannot be expected with other histological types, such as invasive lobular carcinoma, adenoid cystic carcinoma, or metaplastic carcinoma (squamous-cell carcinoma and spindle-cell carcinoma). On therapeutic response assessment, the clinical and pathological findings generally match for solid-tubular carcinoma but not for scirrhous carcinoma and invasive lobular carcinoma. With mucinous carcinoma, mucus accumulation can remain, even though most cancer cells disappear; as a result, assessment based on tumor diameter changes is difficult. Histological diagnosis is also significant from the viewpoint of drug sensitivity, and it is important to maintain the accuracy of histological diagnosis.
Breast Cancer 2009
PMID:Therapeutic strategies for breast cancer based on histological type. 1947 19

Fibromatosis-like spindle-cell metaplastic carcinoma (FLSpCC) is an atypical variant of spindle-cell carcinoma with a particular clinical behavior characterized by frequent local recurrence, very low potential for axillary lymph node metastasis, and uncommon distant metastases. Although it presents the typical immunoprofile of basal-like carcinomas, FLSpCC is associated with a favorable clinical outcome and conservative treatment is generally indicated. Because of the lack of specific clinical and radiological characteristics, the criteria for the differential diagnosis from other benign and malignant tumors are based only on histological findings and immunostaining. We report on two FLSpCC patients treated with wide local excision and mastectomy associated with axillary lymph node dissection. Although the biological behavior of this subtype of breast cancer has not been adequately evaluated, wide local excision or mastectomy with clear resection margins but no axillary dissection appears to be an adequate treatment approach.
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PMID:Low-grade fibromatosis-like spindle cell metaplastic carcinoma: a basal-like tumor with a favorable clinical outcome. Report of two cases. 1957 79

Within the past decade, the incidence of breast cancer in Taiwan has been rising year after year. Breast cancer is the first most prevalent cancer and the fourth leading cause of cancer-related deaths among women in Taiwan. The early stage of breast cancer not only have a wider range of therapeutic options, but also obtain a higher success rate of therapy than those with advanced breast cancer. A test for tumor markers is the most convenient method to screen for breast cancer. However, the tumor markers currently available for breast cancer detection include carcinoembryonic antigen (CEA), carbohydrate antigen 15.3 (CA15.3), and carbohydrate antigen 27.29 (CA27.29) exhibited certain limitations. Poor sensitivity and specificity greatly limits the diagnostic accuracy of these markers. This study aims to identify potential tumor markers for breast cancer. At first, we analyzed genes expression in infiltrating lobular carcinoma, metaplastic carcinoma, and infiltrating ductal carcinoma of paired specimens (tumor and normal tissue) from breast cancer patients using microarray technology. We selected 371 overexpressed genes in all of the three cell type. In advanced breast cancer tissue, we detected four genes MMP13, CAMP, COL10A1 and FLJ25416 from 25 overexpressed genes which encoded secretion protein more specifically for breast cancer than other genes. After validation with 15 pairs of breast cancer tissue and paired to normal adjacent tissues by membrane array and quantitative RT-PCR, we found MMP13 was 100% overexpressed and confirmed to be a secreted protein by Western blot analysis of the cell culture medium. The expression level of MMP13 was also measured by immunohistochemical staining. We suggest that MMP13 is a highly overexpressed secretion protein in breast cancer tissue. It has potential to be a new tumor marker for breast cancer diagnosis.
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PMID:MMP13 is potentially a new tumor marker for breast cancer diagnosis. 1978 29

Breast cancer with cartilaginous and/or osseous metaplasia is a type of metaplastic carcinomas and is a rare disease. We report the case of a 49 year-old female who underwent right mastectomy for a large breast tumor. Histological examinations revealed a mixed tumor with both stromal and epithelial elements;the stroma showed poor differentiated spindle-shape and multiform cells with a massive osseous matrix, and atypical epithelial cells, which mainly existed on the surface of the cysts, showed nucleic atypia. The tumor was diagnosed as a malignant phyllodes tumor with osteosarcomatous differentiation;it was not identified as a metaplastic carcinoma because of the lack of proof of a cancerous component. Two years after a mastectomy, swelling of the axillary lymph nodes was found and a biopsy was performed. Histological findings for the lymph node indicated a metastasis of the invasive ductal carcinoma. The primary tumor was re-examined and was considered to be the origin of the lymph nodal metastasis. Lymph nodal metastasis of cancer proved that the primary tumor had cancerous potential, and the pathological diagnosis was altered to a breast cancer with cartilaginous and/or osseous metaplasia.
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PMID:Breast cancer with cartilaginous and/or osseous metaplasia diagnosed by lymph nodal metastasis: a case report. 2003 93

Fibromatosis is a soft tissue lesion with infiltrative capacity, and is formed of proliferation of fibroblastic and myofibroblastic cells with a significant risk for local recurrence, but no metastatic potential. Fibromatosis is uncommon in the mammary gland, and accounts for less than 0.2% of all primary breast lesions. To the best of our knowledge, it has not been described in the setting of male breast with concurrent florid-type gynecomastia. We report a rare case of a 45-year-old male presenting with a palpable breast mass that was suspicious of carcinoma clinically. Failure of exclusion of metaplastic carcinoma and other lesions in repeated core biopsies lead to excision, which documented the intra-mammary origin of the lesion and established the diagnosis of fibromatosis. The current case demonstrates that fibromatosis in the male breast may have features and a presentation that can be confused with breast cancer. When obvious breast changes and history do not correlate with routine diagnostic measures, the presence of an unusual breast or chest wall tumor, such as a fibromatosis, should be considered in the differential diagnosis.
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PMID:Fibromatosis of the male breast with concurrent florid-type gynecomastia: Report of a case and review of literature. 2151 1


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