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Radiology Case Reports Dec 2023Metaplastic breast carcinoma is rare and may present as a highly aggressive subtype of breast cancer. In this case report of metastatic metaplastic breast carcinoma with...
Metaplastic breast carcinoma is rare and may present as a highly aggressive subtype of breast cancer. In this case report of metastatic metaplastic breast carcinoma with osteosarcomatous differentiation in a female patient previously treated for invasive ductal carcinoma, we describe the new presentation of a palpable mass with associated calcifications on imaging near the site of prior partial mastectomy. This article will detail the clinical presentation, imaging findings, histopathology, and clinical course following treatment of our case. Knowledge of the clinical and imaging presentation of this rare subtype, which can present with benign features on mammography and ultrasound, can facilitate timely diagnosis as treatment paradigms evolve.
PubMed: 37771380
DOI: 10.1016/j.radcr.2023.08.101 -
Cureus Aug 2023Breast carcinoma in males is a rare and unique condition that differs from breast cancer in females and is typically diagnosed at an advanced stage in older male...
Breast carcinoma in males is a rare and unique condition that differs from breast cancer in females and is typically diagnosed at an advanced stage in older male patients. Late diagnosis is often due to the rarity of male breast carcinoma. Among the various types of breast carcinomas, metaplastic breast carcinoma is one of the rarest kind of breast malignancy and is associated with poorer outcomes. This case report presents a singular case of a young male in his early thirties who presented with a breast lump and was diagnosed with metaplastic breast carcinoma. Breast cancer in males is a topic that is often overlooked and lacks extensive research. However, with an increasing incidence of breast carcinoma in males, including even the rarest forms, such as metaplastic carcinoma, and its occurrence in young patients as highlighted in this case report, it is crucial to initiate more discussions, enhance education, and promote further research in male breast carcinoma. In addition, the psychosocial impacts of the disease should be carefully considered, as men with breast cancer face unique emotional challenges that require attention and support.
PubMed: 37753001
DOI: 10.7759/cureus.44174 -
Nature Communications Sep 2023The biologic basis of genetic ancestry-dependent variability in disease incidence and outcome is just beginning to be explored. We recently reported enrichment of a...
The biologic basis of genetic ancestry-dependent variability in disease incidence and outcome is just beginning to be explored. We recently reported enrichment of a population of ZEB1-expressing cells located adjacent to ductal epithelial cells in normal breasts of women of African ancestry compared to those of European ancestry. In this study, we demonstrate that these cells have properties of fibroadipogenic/mesenchymal stromal cells that express PROCR and PDGFRα and transdifferentiate into adipogenic and osteogenic lineages. PROCR + /ZEB1 + /PDGFRα+ (PZP) cells are enriched in normal breast tissues of women of African compared to European ancestry. PZP: epithelial cell communication results in luminal epithelial cells acquiring basal cell characteristics and IL-6-dependent increase in STAT3 phosphorylation. Furthermore, level of phospho-STAT3 is higher in normal and cancerous breast tissues of women of African ancestry. PZP cells transformed with HRas ± SV40-T/t antigens generate metaplastic carcinoma suggesting that these cells are one of the cells-of-origin of metaplastic breast cancers.
Topics: Humans; Female; Incidence; Breast Neoplasms; Endothelial Protein C Receptor; Receptor, Platelet-Derived Growth Factor alpha; Epithelial Cells
PubMed: 37709737
DOI: 10.1038/s41467-023-41473-6 -
Cancers Aug 2023A better understanding of the mechanisms generating tumour heterogeneity will allow better targeting of current therapies, identify potential resistance mechanisms and...
A better understanding of the mechanisms generating tumour heterogeneity will allow better targeting of current therapies, identify potential resistance mechanisms and highlight new approaches for therapy. We have previously shown that in genetically modified mouse models carrying conditional oncogenic alleles, mammary tumour histotype varies depending on the combination of alleles, the cell type to which they are targeted and, in some cases, reproductive history. This suggests that tumour heterogeneity is not a purely stochastic process; rather, differential activation of signalling pathways leads to reproducible differences in tumour histotype. We propose the NOTCH signalling pathway as one such pathway. Here, we have crossed conditional knockout or alleles into an established mouse mammary tumour model. deletion had no effect on tumour-specific survival; however, loss of alleles resulted in a dose-dependent increase in metaplastic adenosquamous carcinomas (ASQCs). ASQCs and adenomyoepitheliomas (AMEs) also demonstrated a significant increase in AKT signalling independent of status. Therefore, the NOTCH pathway is a suppressor of the ASQC phenotype, while increased PI3K/AKT signalling is associated with ASQC and AME tumours. We propose a model in which PI3K/AKT and NOTCH signalling act interact to determine mouse mammary tumour histotype.
PubMed: 37686600
DOI: 10.3390/cancers15174324 -
Breast Cancer Research and Treatment Dec 2023Low-grade adenosquamous carcinoma (LGASC) is a rare type of metaplastic carcinoma of the breast (MBC) with an indolent clinical course. A few LGASC cases with high-grade...
PURPOSE
Low-grade adenosquamous carcinoma (LGASC) is a rare type of metaplastic carcinoma of the breast (MBC) with an indolent clinical course. A few LGASC cases with high-grade transformation have been reported; however, the genetics underlying malignant progression of LGASC remain unclear.
METHODS
We performed whole-genome sequencing analysis on five MBCs from four patients, including one case with matching primary LGASC and a lymph node metastatic tumor consisting of high-grade MBC with a predominant metaplastic squamous cell carcinoma component (MSC) that progressed from LGASC and three cases of independent de novo MSC.
RESULTS
Unlike de novo MSC, LGASC and its associated MSC showed no TP53 mutation and tended to contain fewer structural variants than de novo MSC. Both LGASC and its associated MSC harbored the common GNAS c.C2530T:p.Arg844Cys mutation, which was more frequently detected in the cancer cell fraction of MSC. MSC associated with LGASC showed additional pathogenic deletions of multiple tumor-suppressor genes, such as KMT2D and BTG1. Copy number analysis revealed potential 18q loss of heterozygosity in both LGASC and associated MSC. The frequency of SMAD4::DCC fusion due to deletions increased with progression to MSC; however, chimeric proteins were not detected. SMAD4 protein expression was already decreased at the LGASC stage due to unknown mechanisms.
CONCLUSION
Not only LGASC but also its associated high-grade MBC may be genetically different from de novo high-grade MBC. Progression from LGASC to high-grade MBC may involve the concentration of driver mutations caused by clonal selection and inactivation of tumor-suppressor genes.
Topics: Humans; Female; Carcinoma, Adenosquamous; Breast Neoplasms; Breast; Carcinoma
PubMed: 37650999
DOI: 10.1007/s10549-023-07078-9 -
Medicina (Kaunas, Lithuania) Aug 2023Cutaneous mixed tumor is a rare benign neoplasm that exhibits a wide range of metaplastic changes and differentiation in the epithelial, myoepithelial, and stromal... (Review)
Review
Cutaneous mixed tumor is a rare benign neoplasm that exhibits a wide range of metaplastic changes and differentiation in the epithelial, myoepithelial, and stromal components, which is often confused with various other skin lesions. We present an unusual case of a 58-year-old woman with a mixed tumor of the upper lip, previously misdiagnosed as adnexal carcinoma on a preoperative biopsy. The excision biopsy shows a well-circumscribed lesion composed of various cells and structures featuring folliculo-sebaceous differentiation embedded in a prominent chondromyxoid stroma. The immunohistochemical study proves the various lineages of differentiation and classifies the neoplasm as the less common eccrine subtype of cutaneous mixed tumor. The common embryologic origin of the folliculo-sebaceous apocrine complex leads to a great histological variety of cellular components of mixed tumors and the formation of structures that resemble established types of adnexal neoplasms, which could be a diagnostic pitfall, especially on a small incision biopsy.
Topics: Female; Humans; Middle Aged; Skin Neoplasms; Adenoma, Pleomorphic; Biopsy; Cell Differentiation; Confusion
PubMed: 37629755
DOI: 10.3390/medicina59081465 -
Cureus Jul 2023Nephrogenic adenoma (NA) is a rare metaplastic entity commonly associated with a prior urothelial injury. Most are seen in the urinary bladder and a minority involve...
Nephrogenic adenoma (NA) is a rare metaplastic entity commonly associated with a prior urothelial injury. Most are seen in the urinary bladder and a minority involve the urethra. In this study, we evaluated the expression of p16 as a surrogate marker of this entity and correlated it with clinical pathological parameters. A total of 17 cases of NA were retrospectively studied to assess the immunohistochemical expression of p16 and its value for the diagnosis of this entity.
PubMed: 37533615
DOI: 10.7759/cureus.41285 -
Open Life Sciences 2023Metaplastic matrix-producing breast carcinoma is a type of metaplastic breast carcinoma (MBC), which is a rare malignancy, accounting for 0.2-1% of breast carcinomas. A... (Review)
Review
Metaplastic matrix-producing breast carcinoma is a type of metaplastic breast carcinoma (MBC), which is a rare malignancy, accounting for 0.2-1% of breast carcinomas. A 52-year-old female visited a hospital because of a palpable painless mass in the right breast and was diagnosed with Breast Imaging Reporting and Data System (BI-RADS) category 4A via ultrasound (US) with a suspected positive lymph node at the right axillary region. Excision of the breast mass was performed and histopathologically confirmed that it was MBC with osseous differentiation. No distant metastasis was revealed before a modified radical mastectomy; however, metastasis to a lymph node of the right axillary region was observed (1/22). She received six cycles of TEC scheme chemotherapy (docetaxel, epirubicin, and cyclophosphamide, 21 days) and 5 weeks of radiotherapy (48 Gy/25 f/5 days a week), but without any follow-up examinations since radiotherapy. Twenty-four months after surgery, distant metastases to lungs and liver were confirmed and died 3 months later. This case provides valuable information for clinicians on MBC and suggests that further examination or biopsy should be performed to US BI-RADS 4A masses before surgery. In addition, regular postoperative follow-up plays important roles in detecting metastases early and improving prognosis.
PubMed: 37528884
DOI: 10.1515/biol-2022-0640 -
International Journal of Molecular... Jul 2023Esophageal adenocarcinoma (EAC) is a rapidly increasing lethal tumor. It commonly arises from a metaplastic segment known as Barrett's esophagus (BE), which delineates... (Review)
Review
Esophageal adenocarcinoma (EAC) is a rapidly increasing lethal tumor. It commonly arises from a metaplastic segment known as Barrett's esophagus (BE), which delineates the at-risk population. Ample research has elucidated the pathogenesis of BE and its progression from metaplasia to invasive carcinoma; and multiple molecular pathways have been implicated in this process, presenting several points of cancer interception. Here, we explore the mechanisms of action of various agents, including proton pump inhibitors, non-steroidal anti-inflammatory drugs, metformin, and statins, and explain their roles in cancer interception. Data from the recent AspECT trial are discussed to determine how viable a multipronged approach to cancer chemoprevention would be. Further, novel concepts, such as the repurposing of chemotherapeutic drugs like dasatinib and the prevention of post-ablation BE recurrence using itraconazole, are discussed.
Topics: Humans; Barrett Esophagus; Esophageal Neoplasms; Adenocarcinoma; Risk Factors; Metaplasia
PubMed: 37511077
DOI: 10.3390/ijms241411318 -
World Journal of Clinical Cases Jun 2023Fibromatosis-like metaplastic carcinoma is classified as a rare type of metaplastic carcinoma of the breast by the 2012 WHO pathological and genetic classification...
BACKGROUND
Fibromatosis-like metaplastic carcinoma is classified as a rare type of metaplastic carcinoma of the breast by the 2012 WHO pathological and genetic classification criteria for breast tumors, which takes hyperplastic spindle cells as the main component and is often misdiagnosed as benign stromal proliferative lesions or benign mesenchymal tumors of the breast because of its mild morphology. Here, we collected the clinical data of 2 cases of fibromatosis-like metaplastic carcinoma of the breast and performed pathomorphological observation and immunohistochemical staining of the surgically resected specimens. According to the clinical features, imaging features, immunophenotype, diagnosis and differential diagnosis of 2 cases of fibromatosis-like metaplastic carcinoma of the breast, it was further differentiated.
CASE SUMMARY
Case 1: A 56-year-old postmenopausal female was admitted due to "right breast mass for over 1 year and local ulceration for over 1 mo". Physical examination showed a mass with a diameter of 4.5 cm × 5.5 cm palpable at 2.5 cm from the nipple at 1 o'clock in the right breast. The skin on the surface of the mass ruptured about 3 cm, with a small amount of exudation and bleeding, less clear boundary, hard texture, fair activity, without obvious tenderness. No obvious abnormality was palpable in the left breast. No enlarged lymph nodes were palpable in the bilateral axillae and bilateral supraclavicular region. After removing the mass tissue, it was promptly sent to the pathology department for examination. Case 2: Female, 52-years-old, premenopausal, admitted due to "right breast mass for more than 3 mo". Physical examination showed a 4.0 cm × 4.0 cm diameter mass palpable at 2.0 cm of the nipple in the lower outer 7 o'clock direction of the right breast, with less clear boundary, hard texture, fair activity, no significant tenderness, no palpable significant abnormalities in the left breast, and no palpable enlarged lymph nodes in the bilateral axillae and bilateral supraclavicular region. The mass was resected and sent for pathological examination. Postoperative pathological examination revealed fibromatosis-like metaplastic carcinoma of the breast in both patient 1 and patient 2. No systemic therapy and local radiotherapy were performed after surgery, and no tumor recurrence or metastasis was observed.
CONCLUSION
Fibromatosis-like metaplastic carcinoma of the breast is a rare subtype of metaplastic carcinoma that is often misdiagnosed, and the diagnosis relies on medical history collection, complete sampling, and full use of immunohistochemical assessment. The risk of lymph node and distant metastasis is low, and the current treatment is based on complete surgical resection. The efficacy of systemic radiotherapy and chemotherapy is not clear.
PubMed: 37449215
DOI: 10.12998/wjcc.v11.i18.4384