Primary Breast Sarcoma Research Articles

Primary Breast Sarcoma: A Diagnostic Conundrum

Primary Breast Sarcoma: A Diagnostic Conundrum

Clinicopathological and genetic characterization of radiotherapy-induced undifferentiated pleomorphic sarcoma following breast cancer: a case series of three tumors and comprehensive literature review

AimsCompared to primary breast sarcoma (BSs), radiotherapy-induced sarcoma (RIS) is a less frequent type of secondary breast sarcoma. Undifferentiated pleomorphic sarcoma (UPS) is an even rarer occurrence within the RIS category. This study aimed to present the clinicopathologic and molecular features of breast radiotherapy-induced UPS.MethodsA retrospective study was conducted at the Third Affiliated Hospital of Soochow University to analyze three patients with radiation-induced undifferentiated pleomorphic sarcoma (UPS) following breast cancer, spanning from 2006 to 2023. The clinical and pathological variables were extracted from the medical records, while immunohistochemistry was employed to analyze the immunophenotypes of these tumors. Genomic characteristics were assessed through DNA and RNA sequencing techniques. Another 15 cases from the literature were also reviewed to better characterize the tumor.ResultsThe affected areas encompass the chest wall and breasts, with an incubation period ranging from 6 to 17 years. The tumor cells exhibit pleomorphism and demonstrate a high degree of pathological mitosis. Notably, two cases displayed an accelerated disease progression, characterized by recurrent tumors and metastases occurring within short intervals of 48 and 7 months respectively subsequent to the initial diagnosis. The two prevailing identified genes were TP53 (2/3, 66.7%) and RB1 (1/3, 33.3%). Through analysis of somatic copy number variation (CNV), it was discovered that two oncogenes, MCL1 (1/3, 33.3%) and MYC (1/3, 33.3%), had experienced gains in CNV. The Tumor Mutational Burden (TMB) values for case 1, case 2, and case 3 were 5.9 mut/Mb, 1.0 mut/Mb, and 3.0 mut/Mb, respectively. Moreover, the analysis of RNA-NGS (next-generation sequencing) revealed the presence of a novel gene fusion, named COL3A1-GULP1, in case 2.ConclusionsBased on our thorough analysis of research findings and previous reports, it is evident that radiotherapy-induced UPS exhibits a highly diverse and frequently severe clinical and biological behavior. Identifying tumor formation using genome sequencing can help understand its biological behavior and determine personalized treatments.

Differential diagnosis of primary mesenchymal neoplasms of the breast.

While the majority of breast neoplasms originate from epithelial cells, a rare part of them originate from mesenchymal breast tissue. This study aims to present the histomorphological and clinicoradiological features of our series of primary mesenchymal breast tumors and to discuss the features of these tumors in light of the literature. Cases diagnosed as primary mesenchymal breast tumor in breast resection materials evaluated in our center between 2010 and 2023 were included. Of the 26 tumors included, 57.7% were diagnosed as benign and 42.3% as malignant mesenchymal tumor. Cases diagnosed as benign mesenchymal tumor were hemangioma, lipoma, extra-abdominal fibromatosis, leiomyoma, angiofibroma, lipomatosis, benign fibrous histiocytoma and granular cell tumor. Histopathological study results were compatible with angiosarcoma in 5 (45.4%), undifferentiated sarcoma in 3 (27.3%), myxofibrosarcoma in 2 (18.2%) cases and rhabdomyosarcoma in 1 (9.1%) case. Primary breast sarcomas are rarely seen compared to benign mesenchymal tumors and constitute less than 0.1% of all malignant breast tumors. When histomorphological findings suggestive of a mesenchymal tumor are observed in breast specimens, sufficient sampling should be performed to exclude a possible phyllodes tumor, and clinicoradiological findings should be examined to exclude the possibility of a metastasis.

Primary breast sarcomas: A 13 case-series study treated in university hospital in central Tunisia over a 25-year period.

To retrospectively study the therapeutic modalities of primary breast sarcomas in view of the data of a local Tunisian experience. It is a monocentric, descriptive, retrospective study including 13 cases of primary breast sarcoma treated over a period of 25 years (1995-2020) in the oncological radiotherapy department of a university hospital in Sousse, Tunisia. In our study, 13 cases of non-metastatic breast sarcomas that has been identified, divided into ten cases of phyllodes sarcomas and three cases of non-phyllodes sarcomas.Surgically, all our patients had a mastectomy. Among them, seven underwent a lymph node procedure: five underwent axillary lymph node dissection, and two others had primary axillary lymph node biopsy. For the adjuvant treatment, all the patients included in our study received radiotherapy and seven received chemotherapy. Local recurrence occurred on the operative scar in one patient after completion of radiation therapy. Metastatic relapse was described in five patients. The time to onset of metastases varied between two months and five years. Nevertheless, a complete remission was noted in 6 patients with a follow-up varying from four years to 20 years. Two patients were lost to follow-up. Breast sarcomas remain a very rare entity of aggressive tumors.The therapeutic approach is poorly codified. For this reason, the therapeutic decision should always be discussed in a multidisciplinary assessment.

Clinicopathological Features and Prognosis of Primary Breast Sarcoma: A Single Centre Retrospective Study

Objective: This study aims to describe clinicopathological characteristics and outcomes of primary breast sarcoma (PBS) and the relevance of clinical and pathological characteristics with the outcomes.
 Methodology: 
 Study Design: Retrospective longitudinal study
 Place and duration of study: Department of Medical Oncology Shaukat Khanum Memorial Cancer Hospital and Research Centre Lahore from January 1995 to August 2021.
 Patients aged 18 years and older were included in the study. Individuals with primary or secondary angiosarcoma or cystosarcoma phyllodes were not included. The hospital information system was used for collecting data, and data was collected for 27 patients meeting inclusion study criteria.
 Results: Twenty-seven patients were treated with surgery, seven out of 27 patients (25.90%) received adjuvant chemotherapy and 2 patients (7.40%) received chemotherapy on a palliative intent. The remaining (66.70%, n=18) did not receive chemotherapy. Twenty-four out of 27 patients (88.90%) received radiation therapy; intent was adjuvant in the entire cohort. Median PFS was 18 months with 74.01% of patients having no progression at their last follow-up. The median OS was 23 months. Adjuvant radiotherapy was associated with a significant overall survival benefit (P-value: 0.05). Adjuvant chemotherapy was not associated with a significant survival benefit (P-value: 0.5). Age, tumor size, and disease status (localized disease) conferred a non-significant trend towards a better outcome.
 Conclusion: Adjuvant radiotherapy is the only factor that affects the outcomes of this disease. Further multicentred and preferably prospective studies with a larger number of patients are required to define disease characteristics and patient outcomes of primary breast sarcoma in Pakistan.
 Keywords: clinical characteristics, outcomes, prognosis, primary breast sarcoma (PBS)

Primary Recurrent Stromal sarcoma of Breast: A Rare Case

Primary Recurrent Stromal sarcoma of Breast: A Rare Case

Sarcoma of the Breast from Mankweng Breast Oncology Clinic and Literature Review

Breast sarcoma is an uncommon clinical entity that represents less than 1% of all breast malignancies. This tumor has a mesenchymal origin and is classified into primary breast sarcomas and secondary breast sarcomas which develop as a result of previous irradiation or chronic lymphedema. A 73-year-old female was admitted to the Mankweng Academic Hospital, University of Limpopo, South Africa, with a rapidly enlarging, painful lump in her left breast with duration of 3 months. The patient had no previous history of malignancy or irradiation. Clinical local examination revealed asymmetrical breasts with the left breast bigger than the right. Mammogram revealed a large dense retro-areolar mass containing suspicious intralesional calcifications within the left breast. Histopathological results from biopsy reported features of sarcoma with a heterologous chondroid and osseous differentiation. A left mastectomy was performed, resulting in a complete removal of the tumor with clear margins. The patient was subsequently discharged home in good general condition, without complications, with appointments for follow up at the outpatient clinic, as well as a referral to the oncologists for radiotherapy.

Primary Breast Sarcoma: A Two-Centre Analysis and Review of Literature.

Primary breast sarcoma is a very rare malignant type of breast tumours with an incidence of 0.1% of all primary breast malignancies. We present a retrospective analysis of the case series from two hospitals in the Czech Republic with a review of the diagnostic and treatment approach to primary breast sarcomas with an analysis of published prognostic factors. Eleven patients were included in the study, 9 women and 2 men. Statistical evaluation revealed that tumour size (p = 0.1964), grade (p = 0.1667), margin distance (p = 0.5403), mitotic activity (p = 0.8577), or age (p = 0.7822) were not prognostic factors in our cohort. The analysis did not prove any of the factors, such as age, tumour size, grade, or mitotic activity, to be statistically significant prognostic factors. Based on the literature review, the most common published prognostic factors are tumour size, margin status, and grade, but the results are ambiguous.

Pattern of Various Male Breast Diseases in a Tertiary Care Centre of Aurangabad District, Maharashtra, India- A Prospective Interventional Study

Introduction: A small percentage of men are affected by breast diseases and awareness of male breast disease is less and presentation is often delayed due to embarrassment. The most common presentation is gynaecomastia, where cosmetic correction is sought. Over the last two decades the rate of male breast complaints increased from 0.8% to 2.4%, while 1% of all breast cancer occur in males. Aim: To study the pattern of various male breast diseases in a tertiary care centre of Aurangabad District in Maharashtra, India. Materials and Methods: This prospective clinical interventional study was carried out in 44 male patients above age of 12 years coming with complaints related to breast to Department of General Surgery of Government Medical College, Aurangabad from 1st August 2017 to 31st July 2019. Detailed history was taken and any underlying causative disease/risk factor or medication if any was noted. Thorough clinical examination and laboratory investigations were done. Ultra-sonography of breast was done in all patients. Mammography was done in three patients who were having clinical suspicion of malignancy. Continuous variables were presented as mean, Standard Deviation (SD) or median if the data is unevenly distributed. Categorical variables are expressed as absolute numbers and percentages. Data was analysed using Statistical Package for the Social Sciences (SPSS) version 17.0. Results: The youngest patient was 12 years old and eldest was 85 years old. In the present study, 38 benign and 6 malignant male breast diseases were diagnosed. Out of total, 33 had gynaecomastia, 2 had breast abscess, 5 Infiltrating duct carcinoma and 1 each of mastitis, eczema of nipple, sebaceous cyst of areola and primary breast sarcoma. Out of 44 patients, 12 patients underwent surgery for benign and malignant breast diseases, 24 patients of gynaecomastia were managed by reassurance, 5 males with infiltrating ductal carcinoma were managed by modified radical mastectomy and 3 patients by medical therapy. Conclusion: It was concluded that benign male breast diseases were more common and ultrasound together with mammography should be used to differentiate characteristics of benign and malignant male breast lesions.

Primary Breast Sarcoma

Introduction Primary sarcomas of the breast are <0.1% of all malignant tumours of the breast. To date, there are 13 major breast sarcoma series in English literature. This study adds to these series characterizing primary breast sarcoma among Philippine patients. Methods All breast biopsies from the pathology records of the University of the Philippines-Philippine General Hospital (UP-PGH) were searched for breast sarcoma cases from January 2000 to December 2010. Metaplastic carcinomas and phyllodes tumors were excluded. Results There were 52 patients (45 female, 7 male) ranging in age 25-83 years (median 46 years). Majority had lump, ten cases with pain. No history of previous cancer was given. No history of prior radiation was found. Histopathological diagnoses were spindle cell sarcoma (n=13), fibrosarcoma (n=6), liposarcoma (n=6), MPNST (n=5), stromal sarcoma (n=5), angiosarcoma (n=4), MFH (n=4), leiomyosarcoma (n=3), rhabdomyosarcoma (n=3), chondrosarcoma (n=2), and synovial sarcoma (n=1). Tumors were with grade 1 (n=18), grade 2 (n=8), and grade 3 (n=10). Necrosis was noted in 6 cases. Simple mastectomy was done in 19 cases (37%), MRM in 31 cases (59%), while 2 far advanced had no surgery (3%). None had adjuvant radiotherapy or chemotherapy. The duration of follow-up for 45 patients ranged from 1 – 117 months, excluding those who were lost to follow-up. All 15 deaths were due to progressive disease. Recurrences were observed in 9 patients. The disease-free survival (DFS) and overall survival (OS) was 73%and 75%, respectively. On multivariate analysis, DFS and OS were significantly correlated with size (HR=113.63; p=0.019 and HR=77.36; p=0.037), grade (HR=20.73 ; p=0.003andHR= 39.57; p= 0.004), and having a histology of angiosarcoma (HR=35.20 ; p=0.005and HR= 50.74; p=0.007), respectively. Conclusion Sarcoma remains an important clinical entity among primary breast cancers.

Spindle Cell Lesions of the Breast: A Diagnostic Algorithm.

Spindle cell lesions of the breast represent a broad spectrum of entities, ranging from nonneoplastic reactive conditions to high-grade malignant tumors. The wide range makes breast spindle cell lesions a diagnostic pitfall. To review the classification of spindle cell lesions of the breast, including clinical features, morphologic characteristics, and the role of immunohistochemistry as well as molecular tools in assisting the differential diagnosis. A diagnostic algorithm will be proposed. Literature and personal experience are the sources for this study. Spindle cell lesions of the breast can be classified as biphasic or monophasic, with the former including both spindle cell and epithelial components, and the latter including only spindle cell elements. Each category is further subclassified as low or high grade. In the biphasic low-grade group, fibroadenoma and benign phyllodes tumor are the most common lesions. Other uncommon lesions include hamartoma, adenomyoepithelioma, and pseudoangiomatous stromal hyperplasia. In the biphasic high-grade group, borderline/malignant phyllodes tumor and biphasic metaplastic carcinoma are the main lesions to consider. In the monophasic low-grade group, reactive spindle cell nodule, nodular fasciitis, myofibroblastoma, fibromatosis, and fibromatosis-like metaplastic carcinoma have to be considered. In the monophasic high-grade group, the possible lesions are monophasic spindle cell metaplastic carcinoma, primary breast sarcoma, and metastases. Awareness of the clinical history and careful evaluation of any epithelial differentiation (with a large immunohistochemical panel) are crucial in the distinction.

Primary and Secondary Breast Sarcoma: Clinical and Pathological Characteristics, Prognostic Factors, and Nomograms for Predicting Survival

BackgroundBreast sarcoma is one of the rare types of breast tumors with different features and outcomes compared to carcinoma. Our study aims to describe the clinical and pathological characteristics of primary breast sarcoma (PBS) and secondary breast sarcoma (SBS) along with determining prognostic factors and developing nomograms for predicting survival. MethodsUsing the Surveillance, Epidemiology, and End Results (SEER) Program, female patients diagnosed with breast sarcoma between 1975 and 2016 were identified. Cox regression was used to evaluate the association between survival and clinical features. ResultsOut of 1334 included patients, 816 had PBS and 518 had SBS. PBS had a significantly better overall survival than SBS with median survival months of 107 for PBS and 45 for SBS. The primary tumor site did not have a significant impact on the survival of SBS. Cox regression showed worse survival of PBS patients who were > 60 years (HR 3.04, 95% CI 2.46-3.74) and had tumor size > 50 mm (HR 2.01, 95% CI 1.61-2.51). Being not married was associated with worse survival of PBS (HR 1.29, 95% CI 1.06-1.56) and SBS (HR 1.50, 95% CI 1.19-1.90). Surgery was associated with better survival of PBS (HR 0.60, 95% CI 0.42-0.85) and SBS (HR 0.46, 95% CI 0.31-0.68). The C-indexes of created nomograms were 0.73 for PBS and 0.69 for SBS. ConclusionAge and size were the most important prognostic factors for the survival. Surgery was associated with better survival. However, radiation and chemotherapy did not show significant improvement in survival.

MO7-4 Clinical characteristics and outcomes of primary sarcoma of breast: a single center retrospective study

MO7-4 Clinical characteristics and outcomes of primary sarcoma of breast: a single center retrospective study

221P Primary and secondary breast sarcoma: Clinical and pathological characteristics, prognostic factors and nomograms for predicting survival

Breast sarcoma is a rare type of breast tumor with different features and outcomes compared to carcinoma. Our study aims to describe the clinical and pathological characteristics of primary breast sarcoma (PBS) and secondary breast sarcoma (SBS) along with determining prognostic factors and developing nomograms for predicting survival.

Primary Breast Sarcoma With Recurrence and Metastasis After Resection.

Primary Breast Sarcoma With Recurrence and Metastasis After Resection.

Malignant phyllodes tumor and primary breast sarcoma; distinct rare tumors of the breast.

Malignant phyllodes (MP) and primary breast sarcomas (PBS) are rare neoplasms with overlapping histopathologic features. We compared overall survival (OS) and estimated the association of surgery and therapies with OS. We utilized the National Cancer Database (2004-2016). Patients without surgery, unknown surgery, or margins, or Stage IV disease were excluded. Kaplan-Meier curves and Cox proportional hazards models were used to estimate unadjusted and adjusted OS, respectively. A total of 3209 (59.5%) MP, and 2185 (40.5%) PBS were identified. Despite a larger median tumor size in MP (46vs. 40 mm PBS, p < 0.001), lumpectomy rate was higher for MP (52.9% vs. 27.0% PBS, p < 0.001). Compared to MP, PBS patients more frequently received radiation (28.9% vs. 24%), and chemotherapy (28.1% vs. 4%), both p < 0.001. Unadjusted OS was lower for PBS (57% vs.85% MP, log-rank p < 0.001). PBS (vs. MP) had persistently worse survival (hazard ratio [HR]: 1.98, 95% confidence interval [CI]: 1.69-2.31) after adjustment. Receipt of adjuvant therapies was not associated with OS (either neoplasm); however, lumpectomy was associated with improved OS (vs. mastectomy) for both PBS (HR: 0.59, 95% CI: 0.50-0.75) and MP (HR: 0.65, 95% CI: 0.53-0.81). Positive margins had no association with OS for MP (HR: 1.09, 95% CI: 0.75-1.60), but was associated with worse survival for PBS (HR: 2.35, 95% CI: 1.82-3.02). We found significant survival differences between MP and PBS, with PBS having a consistently worse OS. Our findings support surgery as the mainstay of treatment for both tumor types and suggest that lumpectomy may be a reasonable option for select patients without compromising outcomes.

Expression of TRPS1 in phyllodes tumor and sarcoma of the breast

When a sarcomatous neoplasm is identified in the breast, distinguishing metaplastic carcinoma, malignant phyllodes tumor (MPT), and primary sarcoma is a diagnostic challenge, especially on small biopsies, as all these tumors may have overlapping morphological features, thoroughly grossing with histological examination and immunohistochemical staining being the standard approach to aid in classifying these lesions. Recently, we identified a highly sensitive and specific breast carcinoma marker TRPS1 with high expression in metaplastic breast carcinoma. In the current study, we tested TRPS1 in MPTs and primary sarcoma of the breast. We found TRPS1 was highly expressed (95%) within spindle cell, chondro-osseous, and/or liposarcomatous components of MPTs, in all breast primary chondrosarcomas and extraskeletal osteosarcomas, but not in other sarcomas of the breast. In extramammary sarcomas, TRPS1 was expressed in 28% of conventional chondrosarcomas and 56% of osteosarcomas of bone, but rarely in undifferentiated pleomorphic sarcomas (UPSs), liposarcomas, and angiosarcomas. In summary, MPTs may share similar genetic background with metaplastic carcinoma exhibiting TRPS1 expression, and TRPS1 may play a role in chondro-osseous differentiation because of its expression in chondro-osseous sarcomas from both breast and extramammary sites. Our findings suggest TRPS1 may be clinically useful in distinguishing MPT and metaplastic carcinoma from primary breast sarcoma except for tumors with chondro-osseous differentiation.

Presentation of Low-grade Fibro Myxoid Sarcoma in Male Breast: Rare and Challenging Entity for Diagnosis - A Case Report with Review of Literature

Primary breast sarcomas are very rare tumors accounting &lt;1% of primary malignant breast tumors and &lt;5% of soft tissue sarcomas. They are seen in young adults with tendency for multiple recurrences. They can metastasize if incompletely excised, so the prognosis is poor. There is rarity because of lack of consensus and a few case reports have been reported till date. We report a case of 31-year-old male with history of left areolar swelling. He had history of excision biopsy one year back from same site which on histopathology was diagnosed as low-grade fibro myxoid sarcoma. The patient was asymptomatic for one year and now presented with history of swelling at scar site. The lumpectomy was done. There was no systemic dissemination. The tumor was histologically diagnosed as recurrence of low-grade fibro myxoid sarcoma. We review the literature about breast sarcomas and low-grade fibro myxoid sarcoma of the breast.

EP.TH.729Spontaneous Complete Regression of Sacroma: A Case Report And Review of Literature

Abstract Spontaneous complete regression (SR) of cancer is complete or partial disappearance of the cancer without any treatment which is very rare(1). Case Report 58 year old female, with a palpable right breast lump from the chest wall at 7o clock position. It was 25mm in size, axillae demonstrated no LAD. Imaging was performed which showed a suspicious lesion with malignant features,core biopsy done. It showed pleomorphic spindled and epitheloid cells. Immunohistochemistry was negative for AE1/AE3,MNF116,CK19,CK7,P63,CK14,CK5/6 was diagnosed as sarcoma with a possibility of phyllodes tumour. Plan was made in MDT to discuss in regional sarcoma meeting and staging CT which was normal. Sarcoma MDT recommended surgery, planned for wide local excision. On the day of surgery patient came for wire localisation, however no tumor noted on imaging and patient also confirmed the same. Patient had CT and MRI which revealed no abnormalities. This was discussed in local and central MDT, advised imaging after 3 and 6 months. Discussion Spontaneous regression of breast sarcoma in Pub med yielded no cases. This process has not been clearly explained yet. Several mechanisms have been suggested for spontaneous regression, including immune modulation, withdrawal of carcinogens, infection, apoptosis, antiangiogenic and maturation mechanisms gene therapy, vaccine-mediated mechanisms among many. Conclusion This is the first case of SA of primary breast sarcoma to our knowledge and our main aim to present this case is due to its rarity.

Primary Breast Tumors with Mesenchymal Morphology.

Overview Mesenchymal tumors of the breast are rare. Few epithelial tumors also have mesenchymal components. It is crucial to identify these as per histogenesis. This can be facilitated by markers of epithelial–mesenchymal transition (EMT). Objectives The aim of this study was to categorize the breast lesions with mesenchymal morphology and to study EMT on immunohistochemistry (IHC). Materials and Methods This is a retrospective study of 5-year duration from January 2015 to December 2019. Inclusion criteria: all breast lesions showing mesenchymal/nonepithelial morphology, complete or partial, on histology. Exclusion criteria: Mammary carcinomas without any mesenchymal/nonepithelial morphology, fibroadenomas, and lymphomas. Demographics, clinical, gross examination, histology, and IHC findings of selected cases were reviewed and recorded. Three additional markers p53, E-cadherin, and β-catenin were performed. Statistical Analysis Used Frequency calculation for each variable (IHC). Results Thirteen (2.5%) out of total 510 breast specimens showed mesenchymal histology. Of these, five (38.5%) were metaplastic breast carcinomas (MBC), four (31%) were phyllodes tumor (PT), and one (7.7%) case each of malignant peripheral nerve sheath tumor, primary stromal sarcoma of breast, pseudoangiomatous stromal hyperplasia, and myofibroblastoma. Loss of E-cadherin was seen in 4/5 (80%) MBCs and was retained in ductal component of PTs. p53 was not expressed in any of the tumors except 3/5 (60%) MBCs. β-Catenin was aberrant in all MBCs. Conclusions Primary breast tumors with mesenchymal morphology present a spectrum ranging from benign mesenchymal, fibroepithelial neoplasms to malignant tumors of mesenchymal and epithelial origin. Loss of E-cadherin, expression of p53, and aberrant expression of β-catenin are suggestive of EMT and molecular heterogeneity of MBCs.