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BMJ Case Reports Feb 2024Primary soft tissue sarcomas of the breast are rare aggressive neoplasms. These often are misdiagnosed with other more common neoplasms like fibroepithelial...
Primary soft tissue sarcomas of the breast are rare aggressive neoplasms. These often are misdiagnosed with other more common neoplasms like fibroepithelial malignancies, namely phyllodes tumour and metaplastic carcinoma. Being uncommon, chances of being misdiagnosed are higher leading to early mortality. A multidisciplinary team incorporating surgery, pathology, chemotherapy and radiotherapy is required to formulate an approach to primary soft tissue sarcoma. Generally, these tumours may show single or dual phenotype; we present one rare case report showing multiphenotypic differentiation.
Topics: Female; Humans; Breast; Breast Neoplasms; Sarcoma; Soft Tissue Neoplasms; Combined Modality Therapy; Patient Care Team
PubMed: 38388202
DOI: 10.1136/bcr-2023-255750 -
Asian Journal of Surgery Jun 2024
Topics: Humans; Female; Breast Neoplasms; Metaplasia; Cell Differentiation; Middle Aged; Carcinoma
PubMed: 38383190
DOI: 10.1016/j.asjsur.2024.02.024 -
Journal of Cancer Research and... Oct 2023We report a rare case of spindle cell carcinoma, a histological subtype of metaplastic breast carcinoma, in a 40-year-old male who presented with an ulcero-proliferative...
We report a rare case of spindle cell carcinoma, a histological subtype of metaplastic breast carcinoma, in a 40-year-old male who presented with an ulcero-proliferative lump in the right breast. Fine-needle aspiration cytology of the lesion showed poorly cohesive clusters of pleomorphic spindle-shaped cells, suggestive of malignant spindle cell tumor. Right mastectomy along with ipsilateral lymph node dissection was performed. Microscopic evaluation revealed a neoplasm comprising interlacing fascicles of oval to spindled pleomorphic cells with brisk mitosis and areas of necrosis. There was no nodal metastasis. Immunohistochemistry revealed a triple-negative phenotype along with diffuse positivity for CK5/6, vimentin, and smooth muscle actin. p63, beta-catenin, and CD34 were negative. The patient subsequently received adjuvant chemotherapy with 5-fluorouracil, adriamycin, and cyclophosphamide regimen and was disease-free at 1-year follow-up.
Topics: Humans; Male; Adult; Breast Neoplasms; Mastectomy; Carcinoma; Antigens, CD34; Biopsy, Fine-Needle
PubMed: 38376321
DOI: 10.4103/jcrt.jcrt_2201_21 -
Journal of Cancer Research and... Oct 2023Primary sarcoma of the breast is a rare clinical entity with an incidence of less than 1% among cases of breast cancer. Primary osteosarcoma of the breast is a very rare...
Primary sarcoma of the breast is a rare clinical entity with an incidence of less than 1% among cases of breast cancer. Primary osteosarcoma of the breast is a very rare disease that shares clinical features similar to metaplastic breast carcinoma. A 57-year-old female Dravidian patient presented with a breast lump. A needle biopsy was suggestive of carcinoma. However, the mammogram was suggestive of dense calcification lesion, which is unusual in carcinoma. She underwent breast conservation surgery with sentinel lymph node biopsy; final histopathology was suggestive of osteosarcoma of the breast. After a follow-up of 18 months, the patient is healthy and disease-free. Primary breast osteosarcoma has to be considered as one of the differential diagnoses to metaplastic carcinoma and warrants a different treatment approach. Whenever there is discordance in clinical features, imaging, and histology, thorough evaluation with the mammogram, immunohistochemistry, and PET scan helps to resolve the issue.
Topics: Female; Humans; Middle Aged; Breast; Breast Neoplasms; Carcinoma; Osteosarcoma; Bone Neoplasms
PubMed: 38376320
DOI: 10.4103/jcrt.jcrt_1689_21 -
Journal of Cancer Research and... Oct 2023The metaplastic breast carcinoma is a rare malignancy with an incidence of 5% of all breast tumors. Metaplastic carcinoma of the breast with mesenchymal differentiation...
The metaplastic breast carcinoma is a rare malignancy with an incidence of 5% of all breast tumors. 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. Metaplastic breast carcinoma most often affects women over 50 years of age, with an average age between 55 and 60 years. We report three cases of metaplastic breast carcinoma with mesenchymal differentiation presented at our hospital. Patients were in their 4th decade. All patients presented with a fast-growing large mass and were treated surgically (mastectomy), with the final histopathological diagnosis of MCMD.
Topics: Female; Humans; Middle Aged; Breast; Breast Neoplasms; Carcinoma; Carcinosarcoma; Mastectomy
PubMed: 38376317
DOI: 10.4103/jcrt.jcrt_1517_21 -
Acta Cytologica Feb 2024Urine cytopathology is a cost-effective method to diagnose and follow patients with high grade urothelial carcinoma (HGUC). However, some benign, reactive and...
Urine cytopathology is a cost-effective method to diagnose and follow patients with high grade urothelial carcinoma (HGUC). However, some benign, reactive and metaplastic changes may mimic HGUC and pose a diagnostic challenge for cytopathologists. Summary: Our comprehensive review focuses on summarizing common pitfalls encountered in urine cytopathology, based largely on the experience of the senior author (AC) utilising the diagnostic criteria described in the 2nd edition of The Paris system (TPS) for reporting urinary tract cytopathology and in recent published literature. These include urothelial tissue fragments, instrumented samples, degenerative changes, treatment effects, viral cytopathic changes, iatrogenic and metaplastic changes. Our aim is to provide a clear understanding of these challenges to assist cytopathologists in making accurate diagnoses. Key Message: It's crucial for cytopathologists to recognize benign, reactive and metaplastic lesions that could resemble HGUC. Awareness of these cytological features is essential to minimise diagnostic errors.
PubMed: 38350426
DOI: 10.1159/000537737 -
Cureus Feb 2024Metaplastic breast cancer (MpBC) is a rare form of breast cancer known for suboptimal response to chemotherapy, high recurrence rate, poor prognosis, and limited...
Long-Lasting Complete Remission in a Patient With Metastatic Metaplastic Breast Cancer Treated With Immune Checkpoint Inhibitor and Chemotherapy: A Case Report and a Review of the Literature.
Metaplastic breast cancer (MpBC) is a rare form of breast cancer known for suboptimal response to chemotherapy, high recurrence rate, poor prognosis, and limited treatment options. Recent studies have reported that MpBC has high expression of programmed death ligand 1 and tumor-infiltrating lymphocytes, indicating the potential effectiveness of immunotherapy (IO) in MpBC. In addition, several reports have demonstrated the activity of IO in MpBC. In this case report, we present a case of recurrent MpBC that achieved durable, rapid, complete remission with atezolizumab (anti-PD-L1) and nab-paclitaxel with a continued response even after discontinued therapy.
PubMed: 38314378
DOI: 10.7759/cureus.53419 -
The Journal of Pathology Apr 2024Phyllodes tumours (PTs) are rare fibroepithelial lesions of the breast that are classified as benign, borderline, or malignant. As little is known about the molecular...
Phyllodes tumours (PTs) are rare fibroepithelial lesions of the breast that are classified as benign, borderline, or malignant. As little is known about the molecular underpinnings of PTs, current diagnosis relies on histological examination. However, accurate classification is often difficult, particularly for distinguishing borderline from malignant PTs. Furthermore, PTs can be misdiagnosed as other tumour types with shared histological features, such as fibroadenoma and metaplastic breast cancers. As DNA methylation is a recognised hallmark of many cancers, we hypothesised that DNA methylation could provide novel biomarkers for diagnosis and tumour stratification in PTs, whilst also allowing insight into the molecular aetiology of this otherwise understudied tumour. We generated whole-genome methylation data using the Illumina EPIC microarray in a novel PT cohort (n = 33) and curated methylation microarray data from published datasets including PTs and other potentially histopathologically similar tumours (total n = 817 samples). Analyses revealed that PTs have a unique methylome compared to normal breast tissue and to potentially histopathologically similar tumours (metaplastic breast cancer, fibroadenoma and sarcomas), with PT-specific methylation changes enriched in gene sets involved in KRAS signalling and epithelial-mesenchymal transition. Next, we identified 53 differentially methylated regions (DMRs) (false discovery rate < 0.05) that specifically delineated malignant from non-malignant PTs. The top DMR in both discovery and validation cohorts was hypermethylation at the HSD17B8 CpG island promoter. Matched PT single-cell expression data showed that HSD17B8 had minimal expression in fibroblast (putative tumour) cells. Finally, we created a methylation classifier to distinguish PTs from metaplastic breast cancer samples, where we revealed a likely misdiagnosis for two TCGA metaplastic breast cancer samples. In conclusion, DNA methylation alterations are associated with PT histopathology and hold the potential to improve our understanding of PT molecular aetiology, diagnostics, and risk stratification. © 2024 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
Topics: Humans; Female; Phyllodes Tumor; DNA Methylation; Fibroadenoma; Breast Neoplasms; Breast
PubMed: 38300122
DOI: 10.1002/path.6250 -
Scientific Reports Jan 2024The absence of early diagnosis contributes to oesophageal cancer being the sixth most common cause of global cancer-associated deaths, with a 5-year survival rate...
The absence of early diagnosis contributes to oesophageal cancer being the sixth most common cause of global cancer-associated deaths, with a 5-year survival rate of < 20%. Barrett's oesophagus is the main pre-cancerous condition to adenocarcinoma development, characterised by the morphological transition of oesophageal squamous epithelium to metaplastic columnar epithelium. Early tracking and treatment of oesophageal adenocarcinoma could dramatically improve with diagnosis and monitoring of patients with Barrett's Oesophagus. Current diagnostic methods involve invasive techniques such as endoscopies and, with only a few identified biomarkers of disease progression, the detection of oesophageal adenocarcinoma is costly and challenging. In this work, single-cell Raman spectroscopy was combined with microfluidic techniques to characterise the development of oesophageal adenocarcinoma through the progression of healthy epithelial, Barrett's oesophagus and oesophageal adenocarcinoma cell lines. Principal component analysis and linear discriminant analysis were used to classify the different stages of cancer progression. with the ability to differentiate between healthy and cancerous cells with an accuracy of 97%. Whilst the approach could also separate the dysplastic stages from healthy or cancer with high accuracy-the intra-class separation was approximately 68%. Overall, these results highlight the potential for rapid and reliable diagnostic/prognostic screening of Barrett's Oesophagus patients.
Topics: Humans; Barrett Esophagus; Spectrum Analysis, Raman; Esophageal Neoplasms; Adenocarcinoma
PubMed: 38242991
DOI: 10.1038/s41598-024-52079-3 -
The Breast Journal 2024To examine the clinical management of metaplastic breast cancer (MeBC), particularly the role of chemotherapy.
AIM
To examine the clinical management of metaplastic breast cancer (MeBC), particularly the role of chemotherapy.
METHODS
This retrospective study included patients with MeBC ( = 73) from a tertiary breast cancer center: the "Centre des Maladies du Sein of the CHU de Québec-Université Laval." The specimens were reviewed by two pathologists. Patient and tumor characteristics, systemic therapy (neoadjuvant and adjuvant), disease-free survival (DFS), and overall survival (OS) were recorded.
RESULTS
The median follow-up was 57.2 months. The mean tumor size was 39.5 ± 32.1 (range, 1-200) mm. Most were in grade 3 (75.3%), without evidence of clinical nodal involvement (75.3%), and triple-negative (79.5%). Chemotherapy was given to 49 (67.1%) patients. Thirty-seven patients (50.7%) underwent a mastectomy, and 22/37 (59.5%) received radiotherapy. Adjuvant chemotherapy was given to 36 patients (49.3%), and nine (12.3%) patients were treated with neoadjuvant chemotherapy. The 5-year OS and DFS rates were 60.2% and 66.8%. Among the nine patients who received neoadjuvant chemotherapy, three (33.3%) achieved a partial response, three (33.3%) had stable disease, and three (33.3%) had disease progression. The use of chemotherapy, especially in the adjuvant setting, had a significant positive effect on 5-year OS (=0.003) and 5-year DFS (=0.004). Nodal involvement was associated with worse OS (=0.049) but similar DFS (=0.157). Lumpectomy was associated with better 5-year OS ( < 0.0001) and DFS (=0.0002) compared with mastectomy.
CONCLUSION
MeBC represents a rare heterogeneous group of malignancies with poor prognosis. Adjuvant chemotherapy was associated with improved OS and DFS. Patients should be carefully selected for neoadjuvant chemotherapy.
Topics: Humans; Female; Breast Neoplasms; Mastectomy; Retrospective Studies; Radiotherapy, Adjuvant; Disease-Free Survival; Chemotherapy, Adjuvant; Carcinoma; Neoadjuvant Therapy; Antineoplastic Combined Chemotherapy Protocols; Prognosis
PubMed: 38223556
DOI: 10.1155/2024/5920505