scholarly journals Dermatofibrosarcoma protuberans – the use of neoadjuvant imatinib for treatment of an uncommon breast malignancy: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Matthew W. McGee ◽  
Sarag A. Boukhar ◽  
Varun Monga ◽  
Ronald Weigel ◽  
Sneha D. Phadke

Abstract Background Dermatofibrosarcoma protuberans is a rare soft tissue malignancy that, if left untreated, can be locally destructive and life-threatening. Dermatofibrosarcoma protuberans is uncommon in the breast, and the similarity of its morphologic features with other spindle cell malignancies can make correct identification difficult. Immunohistochemistry and molecular testing can aid in the correct diagnosis when there is diagnostic uncertainty. Imatinib, a selective tyrosine kinase inhibitor, has been used for adjuvant treatment of dermatofibrosarcoma protuberans following surgical resection. When used as a neoadjuvant treatment, imatinib offers the opportunity to decrease tumor size prior to surgery to lessen the chance for disfigurement. Case presentation We present the case of a Caucasian woman who was 46-year-old when she first noted a mass in her right breast in 2015; she was initially diagnosed as having metaplastic breast carcinoma. Mastectomy and systemic chemotherapy were planned; however, after review of pathology at a referral center, the diagnosis was changed to dermatofibrosarcoma protuberans. She was treated with 4 months of neoadjuvant imatinib with adequate tumor shrinkage to perform breast conservation. Conclusion This patient’s case stresses the importance of correctly diagnosing this rare breast tumor through the histopathologic appearance of dermatofibrosarcoma protuberans, molecular pathogenesis, and immunohistochemistry. These techniques can help differentiate dermatofibrosarcoma protuberans from metaplastic breast carcinoma and other spindle cell lesions of the breast. This is critical, as the treatment options for metaplastic breast carcinoma significantly differ from treatment options for dermatofibrosarcoma protuberans. This case describes the use of imatinib as a neoadjuvant option to reduce preoperative tumor size and improve surgical outcomes.

Author(s):  
Vithya Sanmugasiva ◽  
Marlina Tanty Ramli Hamid ◽  
Farhana Fadzli ◽  
Nazimah Ab Mumin ◽  
Kartini Rahmat

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 imaging findings. Case report: An elderly lady presented with an enlarging painful left breast lump for 1 year. Palpable left breast lump noted 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 which stained positive for cytokeratins and negative for hormone and human epidermal growth factor receptors, which favours 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 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 outcome.


Author(s):  
Evi Abada ◽  
Fayez Daaboul ◽  
Kingsley Ebare ◽  
Hyejeong Jang ◽  
Ziad Fehmi ◽  
...  

Context.— Metaplastic breast carcinoma is an aggressive form of breast cancer that accounts for 0.5% to 3% of all breast cancers. Objective.— To study the clinicopathologic characteristics and outcomes of this rare disease. Design.— Retrospective study of patients with a diagnosis of metaplastic breast carcinoma between 2000 and 2019. Hematoxylin-eosin–stained slides were reviewed and additional clinical data were obtained from electronic medical records. Univariable and multivariable Cox proportional hazard regression analyses were used to determine associations between overall survival and several clinicopathologic variables. Results.— Of the 125 patients with metaplastic breast carcinoma identified, only patients with high-grade disease (N = 115) were included in the data analysis. A total of 38 participants (33%) were white, 66 (57%) were African American, and 11 (10%) belonged to other ethnicities. The median age at diagnosis was 57 years. The median tumor size was 3 cm. Heterologous histology was seen in 30% of cases. Multivariable analyses showed that patients with a larger tumor size had worse overall survival (hazard ratio [HR], 1.25; 95% CI, 1.10–1.44; P &lt; .001). Distant metastatic disease was also associated with worse overall survival on multivariable analysis (HR, 10.27; 95% CI, 2.03–55.54; P = .005). In addition to treatment with either partial or complete mastectomies, 84 patients (73%) received chemotherapy. Multivariable analyses showed that chemotherapy had no effect on overall survival (HR, 0.53; 95% CI, 0.09–6.05; P = .55). Conclusions.— A larger tumor size and distant metastatic disease are associated with worse overall survival in patients with metaplastic breast carcinoma. Additional studies are needed to further characterize our findings.


Breast Care ◽  
2011 ◽  
Vol 6 (3) ◽  
pp. 230-233 ◽  
Author(s):  
Claudius Conrad ◽  
Diane L. Miller ◽  
Christina Kaiser ◽  
Karl-Walter Jauch ◽  
Hanno Nieß ◽  
...  

2021 ◽  
Vol 19 (1) ◽  
pp. 98-101
Author(s):  
Michał Osuchowski ◽  
◽  
Dorota Bartusik-Aebisher ◽  
Ewa Kaznowska ◽  
David Aebisher ◽  
...  

Introduction. Metaplastic breast carcinoma is expressing epithelial and/or mesenchymal tissue within the same tumor. Aim. The aim of this study is to evaluate metaplastic breast carcinoma in a case report and literature review. Description of the case. The presented case desribes metaplastic carcinoma of the breast in 65 years old female patient. Conclusion. Fibromatosis-cell metaplastic carcinoma of the breast presents a particularly large diagnostic challenge. Malignant variants of this disease have been described in the literature.


Author(s):  
Cecilia Mercado ◽  
Chloe Chhor ◽  
John R Scheel

Abstract Neoadjuvant therapy may reduce tumor burden preoperatively, allowing breast conservation treatment for tumors previously unresectable or requiring mastectomy without reducing disease-free survival. Oncologists can also use the response of the tumor to neoadjuvant chemotherapy (NAC) to identify treatment likely to be successful against any unknown potential distant metastasis. Accurate preoperative estimations of tumor size are necessary to guide appropriate treatment with minimal delays and can provide prognostic information. Clinical breast examination and mammography are inaccurate methods for measuring tumor size after NAC and can over- and underestimate residual disease. While US is commonly used to measure changes in tumor size during NAC due to its availability and low cost, MRI remains more accurate and simultaneously images the entire breast and axilla. No method is sufficiently accurate at predicting complete pathological response that would obviate the need for surgery. Diffusion-weighted MRI, MR spectroscopy, and MRI-based radiomics are emerging fields that potentially increase the predictive accuracy of tumor response to NAC.


2015 ◽  
Vol 139 (5) ◽  
pp. 642-649 ◽  
Author(s):  
Jeffrey S. Ross ◽  
Sunil Badve ◽  
Kai Wang ◽  
Christine E. Sheehan ◽  
Ann B. Boguniewicz ◽  
...  

Context Metastatic metaplastic breast carcinoma (MPBC) is an uncommon, but aggressive, tumor resistant to conventional chemotherapy. Objective To learn whether next-generation sequencing could identify potential targets of therapy for patients with relapsed and metastatic MPBC. Design Hybridization capture of 3769 exons from 236 cancer-related genes and 47 introns of 19 genes commonly rearranged in cancer was applied to a minimum of 50 ng of DNA extracted from 20 MPBC formalin-fixed, paraffin-embedded specimens and sequenced to high uniform coverage. Results The 20 patients with MPBC had a median age of 62 years (range, 42–86 years). There were 9 squamous (45%), 9 chondroid (45%), and 2 spindle cell (10%) MPBCs, all of which were high grade. Ninety-three genomic alterations were identified, (range, 1–11) with 19 of the 20 cases (95%) harboring an alteration that could potentially lead to a targeted treatment option. The most-common alterations were in TP53 (n = 69; 75%), PIK3CA (n = 37; 40%), MYC (n = 28; 30%), MLL2 (n = 28; 30%), PTEN (n = 23; 25%), CDKN2A/B (n = 19; 20%), CCND3 (n = 14; 15%), CCNE1 (n = 9; 10%), EGFR (n = 9; 10%), and KDM6A (n = 9; 10%); AKT3, CCND1, CCND2, CDK4, FBXW7, FGFR1, HRAS, NF1, PIK3R1, and SRC were each altered in a single case. All 16 MPBCs (100%) that were negative for ERBB2 (HER2) overexpression by immunohistochemistry and/or ERBB2 (HER2) amplification by fluorescence in situ hybridization were also uniformly (100%) negative for ERBB2 amplification by next-generation sequencing–based copy-number assessment. Conclusions Our results indicate that genomic profiling using next-generation sequencing can identify clinically meaningful alterations that have the potential to guide targeted treatment decisions in most patients with metastatic MPBC.


Author(s):  
Hale Aydin ◽  
Bahar Guner ◽  
Isil Esen Bostanci ◽  
Nazan Ciledag ◽  
Melda Boyacioglu Bulut ◽  
...  

Background and Objectives: The purpose of this study was to evaluate the mammographic, sonographic and MRI findings of metaplastic breast carcinoma. Methods: In this retrospective review study, we analyzed the medical files of 9600 patients who were treated for invasive breast cancers. Clinical information, histopathologic and radiologic findings of 65 patients were included in this study. All existing radiologic images and medical reports were reviewed retrospectively. Thirty-three patients had MG, 58 patients had US and 7 patients had MRI imaging results. Results: Mammographically, the most frequent presentations of MPBC were round shape, microlobulated margin and high density masses. Calcifications with or without masses were not a frequent finding. The most common sonographic findings were round shape, partially indistinct angular margin, hypoechoic and heterogeneous echo patterns and no posterior feature masses. All lesions were presented as masses rather than non-mass enhancements on magnetic resonance imaging. Features of masses had more malignant feature on MRI than other modalities in all 7 patients. Conclusion: Metaplastic breast carcinoma is one of the rarest poorly differentiated invasive breast carcinomas. Interestingly, these aggressive tumors demonstrate benign or moderately malign features on imaging methods. This appearance of MPBC can cause it to be misdiagnosed as a benign breast lesion especially in young women. MPBC should be kept in mind in the differential diagnosis of large palpable breast masses. Therefore, follow-up at short intervals and/or multimodality imaging studies which include breast MRI are important for the diagnosis of MPBC.


2021 ◽  
Vol 2 (3) ◽  
pp. 241-254
Author(s):  
Pasquale Pisapia ◽  
Francesco Pepe ◽  
Antonino Iaccarino ◽  
Roberta Sgariglia ◽  
Mariantonia Nacchio ◽  
...  

Lung cancer is the leading cause of cancer death worldwide. Despite the emergence of highly effective targeted therapies, up to 30% of advanced stage non-small cell lung cancer (NSCLC) patients do not undergo tissue molecular testing because of scarce tissue availability. Liquid biopsy, on the other hand, offers these patients a valuable opportunity to receive the best treatment options in a timely manner. Indeed, besides being much faster and less invasive than conventional tissue-based analysis, it can also yield specific information about the genetic make-up and evolution of patients’ tumors. However, several issues, including lack of standardized protocols for sample collection, processing, and interpretation, still need to be addressed before liquid biopsy can be fully incorporated into routine oncology practice. Here, we reviewed the most important challenges hindering the implementation of liquid biopsy in oncology practice, as well as the great advantages of this approach for the treatment of NSCLC patients.


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