Diagnostic utility of snail in metaplastic breast carcinoma

Metaplastic breast carcinoma (MBC) is a rare subtype of breast cancer characterized by coexistence of carcinomatous and sarcomatous components. Snail is a nuclear transcription factor incriminated in the transition of epithelial to mesenchymal differentiation of breast cancer. Aberrant Snail expression results in lost expression of the cell adhesion molecule E-cadherin, an event associated with changes in epithelial architecture and invasive growth. We aimed to identify the utility of Snail, and of traditional immunohistochemical markers, in accurate MBC classification and to evaluate clinicopathologic characteristics and outcome

Metaplastic breast carcinomas exhibit EGFR, but not HER2, gene amplification and overexpression: immunohistochemical and chromogenic in situ hybridization analysis

INTRODUCTION: Metaplastic breast carcinomas constitute a heterogeneous group of neoplasms, accounting for less than 1% of all invasive mammary carcinomas. Approximately 70–80% of metaplastic breast carcinomas overexpress the epidermal growth factor receptor (EGFR). Human epidermal growth factor receptor (HER)2 and EGFR have attracted much attention in the medical literature over the past few years owing to the fact that humanized monoclonal antibodies against HER2 and therapies directed against the extracellular ligand-binding domain or the intracellular tyrosine kinase domain of EGFR have proven successful in treating certain types of human cancer. We investigated whether HER2 and EGFR overexpression was present and evaluated gene amplification in a series of metaplastic breast carcinomas. METHOD: Twenty-five metaplastic breast carcinomas were immunohistochemically analyzed using a monoclonal antibody (31G7) for EGFR and two antibodies for HER2 (Herceptest and CB11) and scored using the Herceptest scoring system. Gene amplification was evaluated by chromogenic in situ hybridization using Zymed Spot-Light EGFR and HER2 amplification probe. The results were evaluated by bright field microscopy under 40× and 63× objective lenses. RESULTS: Nineteen (76%) metaplastic breast carcinomas exhibited EGFR ovexpression, and among these EGFR amplification (defined either by large gene clusters or >5 signals/nucleus in >50% of neoplastic cells) was detected in seven cases (37%): three carcinomas with squamous differentiation and four spindle cell carcinomas. One case exhibited HER2 overexpression of grade 2+ (>10% of cells with weak to moderate complete membrane staining), but HER2 gene amplification was not detected. CONCLUSION: Metaplastic breast carcinomas frequently overexpressed EGFR, which was associated with EGFR gene amplification in one-third of cases. Our findings suggest that some patients with metaplastic breast carcinomas might benefit from novel therapies targeting EGFR. Because most metaplastic breast carcinomas overexpress EGFR without gene amplification, further studies to evaluate EGFR activating mutations are warranted

An unusually large myofibroblastoma in a male breast: a case report

<p>Abstract</p> <p>Introduction</p> <p>Myofibroblastoma of the breast is a rare benign stromal tumour seen predominantly in men. The gross appearance is that of a well-circumscribed nodule, characteristically small, seldom exceeding 3 cm. We present a case of an unusually large myofibroblastoma, which mimicked a malignant breast tumour.</p> <p>Case presentation</p> <p>A 65-year-old man presented with a rapid enlargement of the right breast over 6 weeks. Examination revealed a firm 15 cm hemispherical lump occupying the whole of the right breast with peau d'orange appearance of the overlying skin and distortion of the nipple. The clinical and radiological features suggested the possibility of sarcoma of the breast. However, a guided Tru-Cut biopsy was inconclusive. A mastectomy was performed to remove the tumour, which weighed more than 2 kg. Histopathology and immunocytochemistry revealed a mixed classical and collagenised type of myofibroblastoma. The patient is well with no evidence of recurrence 5 years after the mastectomy.</p> <p>Conclusion</p> <p>This unexpected presentation of an unusually large myofibroblastoma in a male breast is the largest reported to date. Myofibroblastomas can mimic malignant neoplasms and the clinical significance of this entity lies primarily in its recognition as a distinctive benign neoplasm.</p

Undifferentiated Pleomorphic Sarcoma of the Male Breast Causing Diagnostic Challenges

Undifferentiated pleomorphic sarcoma of the breast are uncommon and often present diagnostic challenges. Herein, we report a case of the undifferentiated pleomorphic sarcoma occurring in the male breast. A 76-year-old man presented with a palpable bean-sized mass in his left breast for two months. Core needle biopsy revealed the presence of atypical cells in a fibrous proliferative lesion, which was removed by wide excision. Based on examination of the excised tumor, the initial pathologic diagnosis was atypical spindle cell lesion with uncertain malignant potential. One year later, the patient returned with a recurrent mass atthe previous surgical site. The mass was again surgically removed using wide excision. Based on histological findings with immunomarkers, the final diagnosis was undifferentiated pleomorphic sarcoma. Undifferentiated pleomorphic sarcoma of the breast can cause genuine diagnostic difficulty and appropriate immunohistochemistry is mandatory for differential diagnosis

Solitary neurofibroma in the male breast

BACKGROUND: Neurofibroma of the male breast outside of neurofibromatosis is extremely rare with only one previous case having been reported. CASE PRESENTATION: A 48 year old male patient with a neurofibroma in the breast presenting with gynaecomastia is reported. Clinical and mammogram findings with fine needle aspiration cytology and full histology are presented. CONCLUSION: To our knowledge this is only the second case of a neurofibroma in a male breast in the English literature and the first report to include the mammographic findings

Multifocal invasive ductal breast cancer with osteoclast-like giant cells: a case report

<p>Abstract</p> <p>Introduction</p> <p>To the best of our knowledge, this is the first case report of a multifocal (trifocal) invasive carcinoma of the breast containing osteoclast-like giant cells.</p> <p>Case presentation</p> <p>A 64-year-old Caucasian woman presented for routine mammography screening with three radiodense lesions in the lower inner quadrant of the right breast, a primary breast cancer. Microscopic examination showed three foci of invasive ductal carcinoma with multinucleated osteoclast-like giant cells. Osteoclast-like giant cells in breast cancer are a rare phenomenon. They are described in less than two percent of all breast cancers and occur in association with invasive ductal cancer and invasive lobular cancer. In addition, osteoclast-like giant cells have been described in several sarcomas and metaplastic carcinomas of the breast.</p> <p>Conclusion</p> <p>To the best of our knowledge, this is the first report of a multifocal infiltrating ductal carcinoma of the breast containing osteoclast-like giant cells. This could be an indication for a possible early event in carcinogenesis associated with a biological event or secretion that indicates the differentiation and/or migration of stromal cells or macrophages.</p

Fibromatosis-like carcinoma-an unusual phenotype of a metaplastic breast tumor associated with a micropapilloma

BACKGROUND: Fibromatosis-like metaplastic carcinoma is a newly described metaplastic breast tumor, literature on which is still evolving. CASE PRESENTATION: A 77-year-old lady presented with a 2 × 2 cm mass with irregular margins in the upper and outer quadrant of left breast. Fine needle aspiration cytology (FNAC) from the lump was inconclusive. A lumpectomy was performed and sent for frozen section, which revealed presence of spindle cells showing mild atypia in a sclerotic stroma. The tumor cells revealed prominent infiltration into the adjacent fat. A differential diagnosis of a low-grade sarcoma vs. a metaplastic carcinoma, favoring the former, was offered. Final histology sections revealed an infiltrating tumor with predominant spindle cells in a collagenous background, simulating a fibromatosis. Adjacent to the tumor were foci of benign ductal hyperplasia and a micropapilloma. Immunohistochemistry (IHC) showed diffuse co-expression of epithelial markers i.e. cytokeratins (CK, HMWCK, CK7) and EMA along with a mesenchymal marker i.e. vimentin in the tumor cells. Myoepithelial markers (SMA and p63) showed focal positivity. A diagnosis of a low-grade fibromatosis-like carcinoma breast associated with a micropapilloma was formed. CONCLUSION: Fibromatosis-like carcinoma is a rare form of a metaplastic breast tumor. This diagnosis requires an index of suspicion while dealing with spindle cell breast tumors. The importance of making this diagnosis to facilitate an intra operative surgical planning is marred by diagnostic difficulties. In such cases, IHC is imperative in forming an objective diagnosis