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Clinical Breast Cancer Aug 2017We aimed to describe our experience with metaplastic breast carcinoma (MBC), evaluate its clinical outcome compared with triple-negative breast cancer (TNBC), and... (Comparative Study)
Comparative Study Review
BACKGROUND
We aimed to describe our experience with metaplastic breast carcinoma (MBC), evaluate its clinical outcome compared with triple-negative breast cancer (TNBC), and provide a through and comprehensive review of the literature to date.
MATERIALS AND METHODS
We reviewed MBC cases (n = 46) from our institution. The following variables were recorded: tumor histologic subtype, Nottingham grade, tumor size, lymph node status, Tumor, Node, Metastases stage, biomarkers profile, patient's age and race, therapy modality (chemotherapy and radiation), and survival (disease-free survival [DFS] and overall survival [OS]). The clinical and pathological data for TNBC (n = 508) cases were extracted from the breast cancer database. To compare the survival between MBC and TNBC, a subgroup of MBC cases (n = 40) were matched with TNBC cases (n = 40) on the basis of known prognostic confounders.
RESULTS
There were 17 of 46 (37%) cases with mesenchymal differentiation, 12 (26.1%) squamous cell carcinoma, 14 (30.4%) spindle cell carcinoma, and 3 (6.5%) mixed type. MBC presented at a more advanced stage than TNBC (P = .014) and was more likely to recur (34% vs. 15.5%; P = .004). More MBC patients died from disease than TNBC (29% vs. 16%; P = .05). In the multivariate analysis, MBC had approximately twice the risk of local recurrence than TNBC (95% confidence interval, 1.01-3.83; P = .05). MBC patients had worse DFS and OS than the matched TNBC patients (P < .001 and P = .033, respectively). A review of the literature comparing MBC versus TNBC is presented.
CONCLUSION
Our results suggest that MBC is clinically more aggressive than TNBC. Further studies might help delineate the differences between these 2 entities.
Topics: Adult; Aged; Biomarkers, Tumor; Carcinoma, Ductal, Breast; Carcinoma, Squamous Cell; Female; Humans; Metaplasia; Middle Aged; Neoplasm Recurrence, Local; Prognosis; Survival Rate; Triple Negative Breast Neoplasms
PubMed: 28529029
DOI: 10.1016/j.clbc.2017.04.009 -
Current Medical Imaging 2022Metaplastic breast carcinoma is an uncommon malignancy that constitutes < 5% of all breast cancers. There are 5 subtypes which are spindle cell, squamous cell,...
INTRODUCTION
Metaplastic breast carcinoma is an uncommon malignancy that constitutes < 5% of all breast cancers. There are 5 subtypes which are spindle cell, squamous cell, carcinosarcoma, matrix-producing and metaplastic with osteoclastic giant cells. Spindle cell carcinoma represents approximately <0.3% of invasive breast carcinomas. It is typically a triple-negative cancer with distinct pathological characteristics, but relatively a non-conclusive on imaging findings.
CASE REPORT
An elderly lady presented with an enlarging painful left breast lump for one year. Palpable left breast lump was found on clinical examination. Mammography demonstrated a high density, oval lesion with a partially indistinct margin. Corresponding ultrasound showed a large irregular heterogeneous lesion with solid-cystic areas. Histopathology showed atypical spindle-shaped cells that stained positive for cytokeratins and negative for hormone and human epidermal growth factor receptors, which favoured spindle cell metaplastic carcinoma. Left mastectomy and axillary dissection were performed, and the final diagnosis was consistent with metaplastic spindle cell carcinoma.
CONCLUSION
Spindle cell carcinoma of the breast is a rare and aggressive histological type of carcinoma, which may present with benign features on imaging. Tissue diagnosis is essential for prompt diagnosis with multidisciplinary team discussion to guide management and improve patient's outcomes.
Topics: Aged; Breast; Breast Neoplasms; Carcinoma; Female; Humans; Mammography; Mastectomy; Metaplasia
PubMed: 34607549
DOI: 10.2174/1573405617666211004114041 -
Modern Pathology : An Official Journal... Apr 2021Currently there is no highly specific and sensitive marker to identify breast cancer-the most common malignancy in women. Breast cancer can be categorized as estrogen... (Comparative Study)
Comparative Study
Currently there is no highly specific and sensitive marker to identify breast cancer-the most common malignancy in women. Breast cancer can be categorized as estrogen receptor (ER)/progesterone receptor (PR)-positive luminal, human epidermal growth factor receptor 2 (HER2)-positive, or triple-negative breast cancer (TNBC) types based on the expression of ER, PR, and HER2. Although GATA3 is the most widely used tumor marker at present to determine the breast origin, which has been shown to be an excellent marker for ER-positive and low-grade breast cancer, but it does not work well for TNBC with sensitivity as low as <20% in metaplastic breast carcinoma. In the current study, through TCGA data mining we identified trichorhinophalangeal syndrome type 1 (TRPS1) as a specific gene for breast carcinoma across 31 solid tumor types. Moreover, high mRNA level of TRPS1 was found in all four subtypes of breast carcinoma including ER/PR-positive luminal A and B types, HER2-positive type, and basal-type/TNBC. We then analyzed TRPS1 expression in 479 cases of various types of breast cancer using immunochemistry staining, and found that TRPS1 and GATA3 had comparable positive expression in ER-positive (98% vs. 95%) and HER2-positive (87% vs. 88%) breast carcinomas. However, TRPS1 which was highly expressed in TNBC, was significantly higher than GATA3 expression in metaplastic (86% vs. 21%) and nonmetaplastic (86% vs. 51%) TNBC. In addition, TRPS1 expression was evaluated in 1234 cases of solid tumor from different organs. In contrast to the high expression of GATA3 in urothelial carcinoma, TRPS1 showed no or little expression in urothelial carcinomas or in other tumor types including lung adenocarcinoma, pancreatic adenocarcinoma, colon and gastric adenocarcinoma, renal cell carcinoma, melanoma, and ovarian carcinoma. These findings suggest that TRPS1 is a highly sensitive and specific marker for breast carcinoma and can be used as a great diagnostic tool, especially for TNBC.
Topics: Biomarkers, Tumor; Carcinoma; Databases, Genetic; Female; GATA3 Transcription Factor; Humans; Immunohistochemistry; Predictive Value of Tests; Repressor Proteins; Reproducibility of Results; Tissue Array Analysis; Triple Negative Breast Neoplasms
PubMed: 33011748
DOI: 10.1038/s41379-020-00692-8 -
Human Pathology Jul 2022A diagnostic dilemma can be encountered when primary triple-negative breast carcinoma (TNBC) without an in situ component or metastatic TNBCs lose the currently used...
A diagnostic dilemma can be encountered when primary triple-negative breast carcinoma (TNBC) without an in situ component or metastatic TNBCs lose the currently used organ-specific marker such as GATA3, raising concerns about metastatic carcinoma from other sites. In the current study, we compared the newly identified breast marker TRPS1 with currently used breast markers GATA3 and SOX10 in whole-tissue sections from 315 cases of various subtypes of TNBC. TRPS1 was highly expressed in 100% of triple-negative primary and metastatic invasive lobular carcinomas, 99% of triple-negative primary and metastatic invasive breast carcinoma of no special type (IBC-NST), and 95% of metaplastic breast carcinomas. In contrast, GATA3 and SOX10 were expressed in 94% and 0% of invasive lobular carcinomas, 63% and 74% of IBC-NST, and 50% and 49% of metaplastic breast carcinomas, respectively. For special-type TNBCs, both TRPS1 and GATA3 were negative in acinic cell carcinomas, most cribriform adenoid cystic carcinomas, and neuroendocrine carcinomas, but positive in secretory carcinomas. Triple-negative apocrine carcinoma was the only subtype of TNBC with positive GATA3 but negative TRPS1. These data indicate that TRPS1 is a highly sensitive marker for TNBCs with positivity not only in GATA3/SOX10-positive TNBCs but also in almost all GATA3/SOX10-negative TNBCs.
Topics: Biomarkers, Tumor; Breast; Breast Neoplasms; Carcinoma, Lobular; Female; GATA3 Transcription Factor; Humans; Repressor Proteins; SOXE Transcription Factors; Triple Negative Breast Neoplasms
PubMed: 35413381
DOI: 10.1016/j.humpath.2022.04.006 -
International Journal of Molecular... Jul 2021Metaplastic breast carcinoma (MBC) is a heterogeneous group of infrequent triple negative (TN) invasive carcinomas with poor prognosis. MBCs have a different clinical... (Review)
Review
Metaplastic breast carcinoma (MBC) is a heterogeneous group of infrequent triple negative (TN) invasive carcinomas with poor prognosis. MBCs have a different clinical behavior from other types of triple negative breast cancer (TNBC), being more resistant to standard chemotherapy. MBCs are an example of tumors with activation of epithelial-mesenchymal transition (EMT). The mechanisms involved in EMT could be responsible for the increase in the infiltrative and metastatic capacity of MBCs and resistance to treatments. In addition, a relationship between EMT and the immune response has been seen in these tumors. In this sense, MBC differ from other TN tumors showing a lower number of tumor-infiltrating lymphocytes (TILS) and a higher percentage of tumor cells expressing programmed death-ligand 1 (PD-L1). A better understanding of the relationship between the immune system and EMT could provide new therapeutic approaches in MBC.
Topics: B7-H1 Antigen; Biomarkers, Tumor; Breast Neoplasms; Cadherins; Carcinoma; Epithelial-Mesenchymal Transition; Female; Humans; Lymphocytes, Tumor-Infiltrating; MicroRNAs; Triple Negative Breast Neoplasms
PubMed: 34299016
DOI: 10.3390/ijms22147398 -
Breast Disease 2018Metaplastic carcinoma of the breast with mesenchymal differentiation (MCMD), previously known as carcinosarcoma, is a very rare and aggressive tumor that has been... (Review)
Review
Metaplastic carcinoma of the breast with mesenchymal differentiation (MCMD), previously known as carcinosarcoma, is a very rare and aggressive tumor that has been recently classified as a subtype of metaplastic breast carcinoma. It accounts for 0.08%-0.2% of all breast cancers, with only a few cases reported in the literature. Histologically, MCMD is characterized by a biphasic pattern of malignant epithelial and sarcomatous components without evidence of a transition zone between the two elements. We herein describe a unique case of metaplastic carcinoma of the breast with chondrosarcomatous differentiation in a postmenopausal woman who presented with a large, rapidly growing, ulcerated, bleeding mass and signs of impending sepsis. Metaplastic breast carcinomas (MBC) are rare and aggressive tumors. They are characterized by larger size, lower rates of axillary node involvement, higher rates of triple negativity and distal metastases, earlier local recurrence and poorer survival compared with classic invasive breast cancer. Because of the rarity of MBC, the optimal treatment has not been well defined. Surgery is the main curative treatment modality since MBC has shown a suboptimal response to standard chemotherapy. Patients with MBC may be appropriate candidates for novel targeted therapies.
Topics: Antineoplastic Combined Chemotherapy Protocols; Breast Neoplasms; Carcinoma, Ductal, Breast; Chemotherapy, Adjuvant; Diagnosis, Differential; Disease-Free Survival; Female; Humans; Mastectomy; Metaplasia; Middle Aged; Mixed Tumor, Malignant; Neoplasm Staging; Receptor, ErbB-2
PubMed: 29504519
DOI: 10.3233/BD-170313 -
Journal of Clinical Pathology Jun 2013Metaplastic carcinoma of the breast is a rare and heterogeneous subtype of breast carcinoma with a generally poor outcome, and few therapeutic options once disease... (Review)
Review
Metaplastic carcinoma of the breast is a rare and heterogeneous subtype of breast carcinoma with a generally poor outcome, and few therapeutic options once disease recurs or progresses. Metaplastic carcinomas of the breast are usually of a larger size at diagnosis, with less frequent nodal metastasis compared with invasive ductal carcinoma no special type, and lack hormone and HER2 receptor expression. Recent research has revealed some potentially actionable genetic changes in a subset of these rare tumours. However, ongoing efforts to further characterise the genetic basis and the molecular alterations underlying the distinctive morphological and clinical characteristics of these tumours are needed in order to identify new targets for treatment. This review will describe the theories of pathogenesis of metaplastic breast carcinoma, and highlight genetic changes and potential therapeutic targets in this generally poor prognosis malignancy.
Topics: Breast Neoplasms; Carcinoma; Epithelial-Mesenchymal Transition; Female; Humans; Metaplasia; Neoplastic Stem Cells; Signal Transduction
PubMed: 23372178
DOI: 10.1136/jclinpath-2012-201086 -
Diagnostic Pathology Mar 2020We report an unusual case of low-grade fibromatosis-like metaplastic carcinoma (LG-FLMC) of the breast. This exceedingly rare epithelial breast malignancy has been... (Review)
Review
BACKGROUND
We report an unusual case of low-grade fibromatosis-like metaplastic carcinoma (LG-FLMC) of the breast. This exceedingly rare epithelial breast malignancy has been reported only 68 times in the past 20 years, and is classified as a subtype of metaplastic breast carcinoma (MBC). It is a locally aggressive tumor with a low potential for lymph node and distant metastases, but with a tendency to recur after excision. Here we describe a less common presentation of LG-FLMC, provide its molecular characterization, discuss the major differential diagnosis and bring a short review of the literature.
CASE PRESENTATION
A 65-year-old woman presented with a self-palpated breast lump that had discordant radio-pathological features. While imaging results were compatible with an infiltrative malignancy, on core needle biopsy (CNB) a sharply delineated lesion composed by a bland-looking population of spindle cells was observed; excision was recommended for final diagnosis. Histology of the resection specimen showed small areas of epithelial differentiation and foci of peripheral invasion. Immunohistochemical analysis revealed a co-immunoreactivity for epithelial and myoepithelial markers in the spindle cell component. Mutation analysis with a capture-based next generation sequencing method revealed pathogenic mutations in GNAS, TERT-promotor and PIK3R1 genes. A diagnosis of LG-FLMC was rendered.
CONCLUSION
This case highlights the importance of a broad differential diagnosis, exhaustive sampling and the use of a broad immunohistochemical panel whenever dealing with a low-grade spindle cell lesion in the breast, and provides further insights into the molecular background of LG-FLMC.
Topics: Aged; Biomarkers, Tumor; Breast Neoplasms; Carcinoma; Female; Fibroma; Humans; Metaplasia; Neoplasm Recurrence, Local
PubMed: 32127014
DOI: 10.1186/s13000-020-00943-x -
Annali Italiani Di Chirurgia 2014Metaplastic carcinoma of the breast (MCB) is a rare form of cancer containing mixture of epithelial and mesenchymal elements in variable combinations. Few and... (Review)
Review
Metaplastic carcinoma of the breast (MCB) is a rare form of cancer containing mixture of epithelial and mesenchymal elements in variable combinations. Few and conflicting clinical data are available in the literature addressing optimal treatment modalities, prognosis and outcome. A retrospective study was conducted to review all patients with MCB diagnosed and treated at Breast Unit of Azienda Ospedaliera "Santa Maria" Terni - Italy between 2001/2010. The aim is to describe patient's clinic pathologic features and to analyze treatment results. Six female patients were studied. The median age was 48 years (range 14/58). The median tumor size was 9 cm. (range 3/18 cm.). Two cases (33%) were identified as purely epithelial and 4 (67%) as mixed epithelial and mesenchymal metaplasia. Hormone receptors were positive in only 2 patients. Modified radical mastectomy performed in 3 patients and 5 underwent axillary node dissection. Adjuvant chemotherapy was given to all patients and postoperative radiotherapy to 4. Four patients relapsed with median time of relapse of 12 months. MCB is an aggressive form of breast cancer associated with poor outcome, high incidence of local recurrence and pulmonary metastases. The disease tends to be estrogen/progesterone receptor negative. Tumor size has an important impact on outcome. The best treatment approach is yet to be defined.
Topics: Adolescent; Adult; Breast Neoplasms; Carcinoma; Chemotherapy, Adjuvant; Combined Modality Therapy; Disease-Free Survival; Epithelial Cells; Female; Humans; Kaplan-Meier Estimate; Mastectomy, Modified Radical; Mesoderm; Metaplasia; Middle Aged; Neoplasm Metastasis; Prognosis; Radiotherapy, Adjuvant; Receptors, Estrogen; Receptors, Progesterone; Retrospective Studies; Treatment Outcome; Tumor Burden; Young Adult
PubMed: 24195912
DOI: No ID Found -
Turk Patoloji Dergisi 2020To evaluate the pathological and radiological features, hormone profiles, surgery and treatment methods of metaplastic breast carcinoma cases diagnosed at our center in...
OBJECTIVE
To evaluate the pathological and radiological features, hormone profiles, surgery and treatment methods of metaplastic breast carcinoma cases diagnosed at our center in the light of current literature.
MATERIAL AND METHOD
A total of 38 metaplastic breast cancer cases diagnosed between 2006-2018 at our center were included in the study. The patients were evaluated in terms of age, tumor size, localization, histological grade, hormone profiles (ER, PR, Her2-neu), American Joint Committee on Cancer (AJCC) Tumor, Lymph node status, Metastases (TNM) stage, progression, survival, radiological features, types of surgery and therapy modalities (chemotherapy and / or radiotherapy).
RESULTS
The age of the patients ranged between 32 and 95 years. Pathological evaluation of cases showed that 14 were pure epithelial (IC-NST + squamous cell carcinoma) and 24 were metaplastic carcinomas with mesenchymal differentiation. Ductal carcinoma in situ (DCIS) was accompanying an invasive component in twenty cases. Seventeen patients had lymph node metastasis. Twelve patients developed distant metastasis. Thirty patients were triple negative for hormone receptors. The mean follow-up period of the patients was 34 months. The estimated life expectancy was 116 months. All of the patients received chemotherapy and 28 patients received adjuvant radiotherapy. There was no correlation between tumor size and lymph node or distant metastasis in our series. Our findings are consistent with the literature.
CONCLUSION
Metaplastic breast carcinoma is a rare entity among breast carcinomas. Metaplastic carcinomas of the breast draw attention with the differences in their clinical course and the radiological and pathological heterogeneity.
Topics: Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Breast Neoplasms; Carcinoma; Female; Humans; Lymphatic Metastasis; Metaplasia; Middle Aged; Neoplasm Staging; Receptor, ErbB-2; Receptors, Estrogen; Receptors, Progesterone; Treatment Outcome; Tumor Burden; Turkey
PubMed: 31769499
DOI: 10.5146/tjpath.2019.01472