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Clinical and Translational Medicine Mar 2024Breast phyllodes tumours (PTs) are a unique type of fibroepithelial neoplasms with metastatic potential and recurrence tendency. However, the precise nature of...
BACKGROUND
Breast phyllodes tumours (PTs) are a unique type of fibroepithelial neoplasms with metastatic potential and recurrence tendency. However, the precise nature of heterogeneity in breast PTs remains poorly understood. This study aimed to elucidate the cell subpopulations composition and spatial structure and investigate diagnostic markers in the pathogenesis of PTs.
METHODS
We applied single-cell RNA sequencing and spatial transcriptomes on tumours and adjacent normal tissues for integration analysis. Immunofluorescence experiments were conducted to verify the tissue distribution of cells. Tumour cells from patients with PTs were cultured to validate the function of genes. To validate the heterogeneity, the epithelial and stromal components of tumour tissues were separated using laser capture microdissection, and microproteomics data were obtained using data-independent acquisition mass spectrometry. The diagnostic value of genes was assessed using immunohistochemistry staining.
RESULTS
Tumour stromal cells harboured seven subpopulations. Among them, a population of widely distributed cancer-associated fibroblast-like stroma cells exhibited strong communications with epithelial progenitors which underwent a mesenchymal transition. We identified two stromal subpopulations sharing epithelial progenitors and mesenchymal markers. They were inferred to further differentiate into transcriptionally active stromal subpopulations continuously expressing COL4A1/2. The binding of COL4A1/2 with ITGA1/B1 facilitated a growth pattern from the stroma towards the surrounding glands. Furthermore, we found consistent transcriptional changes between intratumoural heterogeneity and inter-patient heterogeneity by performing microproteomics studies on 30 samples from 11 PTs. The immunohistochemical assessment of 97 independent cohorts identified that COL4A1/2 and CSRP1 could aid in accurate diagnosis and grading.
CONCLUSIONS
Our study demonstrates that COL4A1/2 shapes the spatial structure of stromal cell differentiation and has important clinical implications for accurate diagnosis of breast PTs.
Topics: Humans; Female; Phyllodes Tumor; Transcriptome; Stromal Cells; Cell Differentiation; Breast Neoplasms; Collagen Type IV
PubMed: 38481388
DOI: 10.1002/ctm2.1611 -
Journal of Ayub Medical College,... 2023Phyllodes tumour (PT) comprises 0.3-1% of all breast cancers and 3% of fibroepithelial neoplasm. It occurs more commonly in the fourth and fifth decades of life....
Phyllodes tumour (PT) comprises 0.3-1% of all breast cancers and 3% of fibroepithelial neoplasm. It occurs more commonly in the fourth and fifth decades of life. Fibroepithelial neoplasms are composed of cell types with two different origins, commonly mesenchymal and epithelial. Histological features are important as this forms the basis of the categorization of PT into benign, borderline and malignant types, thus facilitating management. Metaplasia in any of the two components of PT is rare and the cystic squamous type of metaplasia has even more infrequent histological features. Case: This paper presents the case of a 63-year-old female with a palpable lump in the lower outer quadrant of her left breast. Histology showed a benign Phyllodes tumour with patchy, cystic squamous metaplasia within the lesion, keratin production and foreign-body reaction in response to keratin spillage. The previously done core biopsy was also reviewed, which showed focal stromal cell condensation and features overlapping between benign and borderline phyllodes tumours. Conclusion: The case was presented because of its unique and rare histological picture of Cystic squamous metaplasia in benign PT and a further rarer finding of foreign body reaction to keratin spillage.
Topics: Humans; Female; Middle Aged; Phyllodes Tumor; Breast Neoplasms; Keratins; Metaplasia; Carcinoma, Squamous Cell
PubMed: 38404106
DOI: 10.55519/JAMC-03-11586 -
Indian Journal of Pathology &... Nov 2023The breast can be affected by a variety of specific and unique disorders during pregnancy and lactation. One of these disorders is spontaneous infarction of the breast...
The breast can be affected by a variety of specific and unique disorders during pregnancy and lactation. One of these disorders is spontaneous infarction of the breast which is a rare condition seen in physiologically hyperplastic mammary tissue associated with pregnancy and lactation. The causes and mechanism of the development of breast infarct remain largely unknown. Only 25 cases of breast infarct have been reported in the English literature. Phyllodes tumor is uncommon in pregnant women, and to date, only one report of spontaneous infarction of the phyllodes tumor has been reported in a postpartum woman. In this report, we describe the first case of coexistent infarction of the hyperplastic breast parenchyma with infarction of phyllodes tumor in a 25-year-old female.
PubMed: 38394424
DOI: 10.4103/ijpm.ijpm_355_23 -
Cureus Jan 2024Ruptured phyllodes tumors, though extremely rare, can necessitate emergency surgery in certain cases, particularly those with active bleeding. A 51-year-old woman...
Ruptured phyllodes tumors, though extremely rare, can necessitate emergency surgery in certain cases, particularly those with active bleeding. A 51-year-old woman presented to our hospital with a newly identified mass in her right breast that developed over the past two months. The tumor had ruptured through the paramammary nipple. While initially diagnosed with a phyllodes tumor and scheduled for elective surgery, she experienced active bleeding from the ruptured tumor, leading to a drop in hemoglobin levels. An emergency right simple mastectomy was performed to control the bleeding. Postoperatively, no complications or recurrences were observed. Phyllodes tumors, which are characterized by rapid growth, may present with active bleeding following rupture and may require emergency surgery.
PubMed: 38389604
DOI: 10.7759/cureus.52775 -
International Journal of Surgery Case... Mar 2024This case report presents a rare occurrence of multiple bilateral breast fibroadenomas, one evolving into ductal carcinoma in situ (DCIS) and invasive carcinoma,...
INTRODUCTION AND IMPORTANCE
This case report presents a rare occurrence of multiple bilateral breast fibroadenomas, one evolving into ductal carcinoma in situ (DCIS) and invasive carcinoma, occurring simultaneously with a benign phyllodes tumor in the same breast. The importance of this case lies in emphasizing the crucial need for surveillance in patients with a long history of fibroadenomas and the necessity to investigate any rapid change in the size of fibroadenoma.
CASE PRESENTATION
A 35-year-old multiparous female with a 17 year history of bilateral multiple breast lumps presented with recent onset of right breast pain and yellowish nipple discharge. Two lumps in her right breast had demonstrated an increase in size. Examination revealed a significant mass in the retroareolar region of the right breast and another at the 2 o'clock position. Histopathological examination of the biopsy specimens revealed fibroadenoma and benign phyllodes tumor. The patient underwent a bilateral breast lumpectomy. Further histopathological examination revealed ductal carcinoma in situ and invasive carcinoma within a complex fibroadenoma in the right breast and benign phyllodes tumor. Sentinel lymph node biopsy was negative. She had adjuvant radiations and trastuzumab. Regular follow-ups show no recurrence.
CLINICAL DISCUSSION
Fibroadenomas are usually benign but rarely undergo malignant change. Quick response to size changes and early detection greatly enhance patient results.
CONCLUSION
Ductal carcinoma in situ and invasive breast cancer, a rare malignancy found within a fibroadenoma, necessitates histopathological specimens and immunohistochemical results for accurate diagnosis. Survival rates are significantly enhanced through a multidisciplinary approach.
PubMed: 38368667
DOI: 10.1016/j.ijscr.2023.109196 -
European Journal of Cancer (Oxford,... Apr 2024The aim of our study is to analyze patterns in treatment and outcome in a population-based series of patients with borderline and malignant phyllodes tumors (PT).
AIM
The aim of our study is to analyze patterns in treatment and outcome in a population-based series of patients with borderline and malignant phyllodes tumors (PT).
MATERIAL AND METHODS
Data on all patients with a borderline or malignant PT (1989-2020) were extracted from the Netherlands Cancer Registry and the Dutch nationwide pathology databank (Palga) and retrospectively analyzed.
RESULTS
We included 921 patients (borderline PT n = 452 and malignant PT n = 469). Borderline PT patients more often had breast-conserving surgery (BCS) as final surgery (81 vs. 46%). BCS rates for borderline PT increased over time (OR 1.08 per year, 95%CI 1.04 - 1.13, P < 0.001). In malignant PT adjuvant radiotherapy was given in 14.7%; this rate increased over time (OR 1.07 per year, 95%CI 1.02 - 1.13, P = 0.012). Local recurrence rate (5-year estimate of cumulative incidence) was 8.7% (95%CI 6.0-11.4) for borderline PT and 11.7% (95%CI 8.6-14.8) for malignant PT (P = 0.187) and was related to tumor size ≥ 20 mm (HR 10.6 (95%CI 1.5-76.8) and positive margin (HR 3.0 (95%CI 1.6-5.6), p < 0.001), but not to negative margin width (HR 1.3 ( 95%CI 0.7-2.3), p = 0.350)). Distant metastasis occurred only in malignant PT with a 5-year cumulative incidence of 4.7% (95%CI 3.3 - 6.1).
CONCLUSION
This population-based series showed an increase in BCS in borderline PT and an increase in adjuvant radiotherapy in malignant PT over time. We identified malignant PT, BCS, larger tumor size and positive final margins as possible risk factors for local recurrence. Small but negative margins can be accepted.
Topics: Humans; Female; Mastectomy; Phyllodes Tumor; Retrospective Studies; Netherlands; Follow-Up Studies; Neoplasm Recurrence, Local; Margins of Excision; Breast Neoplasms
PubMed: 38364628
DOI: 10.1016/j.ejca.2024.113924 -
Indian Journal of Pathology &... 2024Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among...
Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among which adeno-myoepithelial adenosis is one of the rare morphologies published in the literature with the tendency to recur and poses a risk for low-grade malignant transformation. Here, we report a case of a young female who had a history of recurrent breast lump mimicking phyllodes tumor and eventually diagnosed as adeno-myoepithelial adenosis on histopathological examination. Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among which adeno-myoepithelial adenosis is one of the rare morphologies published in the literature with the tendency to recur and poses a risk for low-grade malignant transformation. Here, we report a case of a young female who had a history of recurrent breast lump mimicking phyllodes tumor and eventually diagnosed as adeno-myoepithelial adenosis on histopathological examination.
Topics: Female; Humans; Phyllodes Tumor; Neoplasm Recurrence, Local; Fibrocystic Breast Disease; Epithelial Cells; Hyperplasia; Cell Transformation, Neoplastic; Breast Neoplasms; Myoepithelioma
PubMed: 38358228
DOI: 10.4103/ijpm.ijpm_925_22 -
Case Reports in Oncology 2024Spindle cell sarcomas are rare breast lesions which are difficult to diagnose due to resemblance with other breast lesions. Histopathological examination and...
INTRODUCTION
Spindle cell sarcomas are rare breast lesions which are difficult to diagnose due to resemblance with other breast lesions. Histopathological examination and immunohistochemical staining are essential for diagnosis.
CASE PRESENTATION
We present a rare case of a 15-year-old female presenting with high-grade rapidly progressive spindle cell sarcoma of the breast, differentiated as phyllodes tumor, with axillary lymph node involvement. Her lesion, on the left breast, measured 16.9 × 10.1 × 13.7 cm. Histology revealed malignant neoplasm arranged in sheets and individual neoplastic cells with an epithelioid to spindled morphology with scant cytoplasm and irregular nuclear membranes. Immunohistochemistry showed weakly positive focal CD-99, and negative WT-1, Myogenin, Desmin, p63, Cytokeratin, Synaptophysin, and CD-34 markers. She was successfully managed with modified radical mastectomy and discharged with regular follow-up advised.
CONCLUSION
Spindle cell sarcomas have a very aggressive course and prompt diagnosis, and management is mandatory for better patient outcomes. Modified radical mastectomy is the mainstay of treatment.
PubMed: 38333631
DOI: 10.1159/000536125 -
Frontiers in Oncology 2023Myeloid sarcoma (MS) is a rare hematological malignancy characterized by the formation of a solid mass of myeloblasts outside the bone marrow, such as in the lymph...
BACKGROUND
Myeloid sarcoma (MS) is a rare hematological malignancy characterized by the formation of a solid mass of myeloblasts outside the bone marrow, such as in the lymph nodes, skin, or bone. MS may arise or concurrently with acute myeloid leukemia (AML), myeloproliferative neoplasm (MPN), or myelodysplastic syndrome (MDS). MS accounts for less than 1% of extramedullary acute myeloid leukemia cases. Phyllodes tumors (PTs) are a rare fibroepithelial breast tumor that can be benign, malignant, or borderline, and account for less than 1% of all breast cancers.
CASE PRESENTATION
We present a unique case of a 50-year-old woman with both breast MS and borderline PT with malignant features, which presented a diagnostic challenge. The patient initially presented with a mass in her right breast, and the initial fine-needle biopsy revealed the presence of immature myeloperoxidase (MPO) myeloid cells consistent with MS. Subsequent pathological analysis of tumor tissues after neoadjuvant radiotherapy and chemotherapy showed a borderline PT with malignant features. Following excision of the tumor, the patient experienced a local recurrence, which was also surgically removed. At 8 months post-surgery, the patient remains free of recurrence under close follow-up.
CONCLUSION
This case highlights the importance of considering the possibility of concurrent malignancies in the differential diagnosis of complex breast masses and underscores the challenges involved in diagnosing and managing such cases. Additionally, we also emphasize the value of neoadjuvant radiotherapy and chemotherapy in MS.
PubMed: 38313212
DOI: 10.3389/fonc.2023.1268617 -
Heliyon Jan 2024Proliferation of both stromal and epithelial components is a characteristic of fibroepithelial cancers of the breast. Certain fibroepithelial tumors of the breast, such...
Proliferation of both stromal and epithelial components is a characteristic of fibroepithelial cancers of the breast. Certain fibroepithelial tumors of the breast, such as fibradenomas and phyllodes tumors, are challenging to distinguish and categorize. To find biomarkers for early diagnosis and improved disease management, it is crucial to deepen our understanding of the molecular pathogenesis pathways and tumor biology of PTs. It has been demonstrated that microRNAs (miRNAs) have significant roles in cancers; the expression pattern of miRNAs can help with cancer categorization and treatment. In contrast, little is understood about miRNAs in breast fibroepithelial cancers. This study was conducted retrospectively with the goal of assessing the expression of six mature miRNAs (hsa-miR-21, hsa-miR-155, hsa-miR-182, hsa-miR-34a, hsa-miR-148a, and hsa-miR-205) in breast fibroepithelial cancers using real-time PCR and predicting these miRNAs' targets using computational techniques. This study comprised 64 patients in total-55 with phyllodes tumors and 9 with fibroadenoma. The research was carried out at the Farhat Hached University Hospital's pathology department in Tunisia. These particular miRNAs expression levels were evaluated via qRT-PCR, and in silico techniques were utilized to predict potential miRNA targets. Analysis of miRNA expression in fibroadenoma and phyllodes tumor tissues revealed that miR-21, miR-155 and miR-182 were upregulated in PTs compared to fibroadenoma and normal tissues. We reported that miR-34a, miR-148a and miR-205 were downregulated in both borderline and malignant PTs compared to fibroadenoma and normal tissue. In silico miRNA target prediction suggested the involvement of these molecules in a wide context of cell signaling pathways.
PubMed: 38312609
DOI: 10.1016/j.heliyon.2024.e24803