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1.
Pathol Res Pract ; 259: 155389, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38850845

RESUMEN

A female in her 60's presented with a left-sided breast mass. A core needle biopsy specimen showed diffuse proliferation of a round cell tumor, which was positive for vimentin, NKX2.2, BCOR, and focal CD99 on immunohistochemistry (IHC). No fusion genes of the Ewing family sarcomas were detected. With a tentative diagnosis of primary breast sarcoma (PBS), total mastectomy was performed after chemotherapy. The resected tissues showed proliferation of round or spindle-shaped tumor cells with a high nuclear-to-cytoplasmic ratio, exhibiting solid and fascicular arrangements but no epithelial component or organoid pattern. While IHC indicated no particular histological diagnosis, genomic examination revealed gene alterations in MED12 p.G44D, MLL2 (KMT2D) p.T1496fs*27, and EGFR variant III (vIII). Moreover, a retrospective IHC study showed overexpression of EGFRvIII. A malignant phyllodes tumor (PT) with extensive sarcomatous overgrowth was indicated as an integrative diagnosis. This is a rare case of a malignant PT harboring EGFRvIII. The present case provides an importance of accurate diagnosis and genomic analysis of rare breast tumors, as malignant PT and PBS are different in its treatment strategy and prognosis.


Asunto(s)
Biomarcadores de Tumor , Neoplasias de la Mama , Receptores ErbB , Inmunohistoquímica , Mutación , Tumor Filoide , Humanos , Femenino , Tumor Filoide/genética , Tumor Filoide/patología , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Persona de Mediana Edad , Receptores ErbB/genética , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/análisis , Proteína Homeobox Nkx-2.2 , Proteínas de Unión al ADN/genética , Proteínas de Homeodominio , Proteínas Nucleares , Complejo Mediador , Factores de Transcripción , Proteínas de Neoplasias
2.
F1000Res ; 13: 210, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38845824

RESUMEN

Background: Phyllodes tumor is a rare fibroepithelial neoplasm of the breast, which is classified histologically as benign, borderline, or malignant. Accurate preoperative diagnosis allows the correct surgical planning and reoperation avoidance. Objective: To describe the clinical presentation and radiologic features of phyllodes tumors and differentiate between benign and non-benign (borderline and malignant) groups. Methods: A retrospective study of 57 patients with a diagnosis of phyllodes tumor who had preoperative imaging (mammography, ultrasound, or CT chest) and histological confirmation. The data was collected from 1 June 2011 to 30 September 2021. The imaging features of the phyllodes tumors were described according to the 5th edition of the ACR BI-RADS lexicon. For comparing between two groups, the student t-test, Wilcoxon rank sum test, Chi-square test, and Fisher's exact test were used for statistical analyses. The logistic regression analysis was calculated for non-benign phyllodes tumor prediction. Results: From 57 patients, the pathologic results were benign for 43 cases and non-benign phyllodes tumors for 14 cases. There was no differentiation of mammographic and CT features between benign and non-benign groups. Non-benign phyllodes tumors had the statistical significance of menopausal status, entire breast involvement, tumor size larger than 10 cm, and heterogeneous echo on univariable analysis. After multivariable analysis, menopausal status (odd ratios=13.79, p=0.04) and presence of vessels in the rim (odd ratios=16.51, p=0.019) or absent vascularity (odd ratios=8.45, p=0.047) on doppler ultrasound were significantly increased possibility of non-benign phyllodes tumor. Conclusions: Menopausal status and presence of vessels in the rim or absent vascularity on Doppler ultrasound were important predictors for the diagnosis of non-benign phyllodes tumor.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Humanos , Tumor Filoide/diagnóstico por imagen , Tumor Filoide/patología , Tumor Filoide/cirugía , Femenino , Adulto , Persona de Mediana Edad , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/patología , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Mamografía/métodos , Anciano , Adulto Joven
3.
Radiat Oncol ; 19(1): 59, 2024 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-38773616

RESUMEN

PURPOSE: Malignant phyllodes tumor of the breast (MPTB) is a rare type of breast cancer, with an incidence of less than 1%. The value of adjuvant radiotherapy (RT) for MPTB has been controversial. The aim of the study was to explore the effect of radiotherapy on the long-term survival of female patients with MPTB at different ages. METHODS: Female MPTB patients were selected from the Surveillance, Epidemiology, and End Results (SEER) database between 2000 and 2020. A Kaplan-Meier survival analysis was conducted to investigate the value of RT for the long-term survival of MPTB patients in different age groups. Additionally, univariate and multivariate Cox regression analyses were performed for overall survival (OS) and breast cancer-specific survival (BCSS) of MPTB patients. Furthermore, propensity score matching (PSM) was also performed to balance the differences in baseline characteristics. RESULTS: 2261 MPTB patients were included in this study, including 455 patients (20.12%) with RT and 1806 patients (79.88%) without RT. These patients were divided into four cohorts based on their ages: 18-45, 46-55, 56-65, and 65-80. Before adjustment, there was a statistically significant difference in long-term survival between RT-treated and non-RT-treated patients in the younger age groups (age group of 18-45 years: OS P = 0.019, BCSS P = 0.016; age group of 46-55 years: OS P < 0.001, BCSS P < 0.001). After PSM, no difference was found in long-term survival of patients in both younger and older groups regardless of whether they received RT (age group of 18-45 years: OS P = 0.473, BCSS P = 0.750; age group of 46-55 years: OS P = 0.380, BCSS P = 0.816, age group of 56-65 years: OS P = 0.484, BCSS P = 0.290; age group of 66-80 years: OS P = 0.997, BCSS P = 0.763). In multivariate COX regression analysis, RT did not affect long-term survival in patients with MPTB. CONCLUSION: There is no evidence that long-term survival of MPTB patients in specific age groups can benefit from RT.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Programa de VERF , Humanos , Femenino , Persona de Mediana Edad , Neoplasias de la Mama/radioterapia , Neoplasias de la Mama/mortalidad , Neoplasias de la Mama/patología , Tumor Filoide/radioterapia , Tumor Filoide/mortalidad , Tumor Filoide/patología , Adulto , Radioterapia Adyuvante/mortalidad , Estudios Retrospectivos , Anciano , Adulto Joven , Adolescente , Anciano de 80 o más Años , Factores de Edad , Tasa de Supervivencia
4.
Acta Cytol ; 68(2): 145-152, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38555634

RESUMEN

INTRODUCTION: Cancer genome analysis using next-generation sequencing requires adequate and high-quality DNA samples. Genomic analyses were conventionally performed using formalin-fixed paraffin-embedded sections rather than cytology samples such as cell block or smear specimens. Specimens collected from liquid-based cytology (LBC) have the potential to be sources of high-quality DNA suitable for genetic analysis even after long-term storage. METHODS: We collected breast tumor/lesion fractions from 92 residual LBC specimens using fine-needle aspiration (FNA) biopsy, including breast carcinoma (1 invasive carcinoma and 4 ductal carcinomas in situ), papillomatous lesion (5 intraductal papillomas), and fibroepithelial lesion (19 phyllodes tumors and 53 fibroadenomas) samples, and others (1 ductal adenoma, 1 hamartoma, 1 fibrocystic disease, and 7 unknown). DNA was extracted from all samples and subjected to DNA integrity number (DIN) score analysis. RESULTS: Average DIN score collected from 92 LBC specimens was significantly higher score. In addition, high-quality DNA with high DIN values (7.39 ± 0.80) was successfully extracted more than 12 months after storage of residual LBC specimens. CONCLUSION: Residual LBC specimens collected from FNA of the breast were verified to carry high-quality DNA and could serve as an alternate source for genetic analysis.


Asunto(s)
Neoplasias de la Mama , Humanos , Neoplasias de la Mama/patología , Neoplasias de la Mama/genética , Neoplasias de la Mama/diagnóstico , Femenino , Biopsia con Aguja Fina/métodos , Biopsia Líquida , ADN de Neoplasias/análisis , ADN de Neoplasias/genética , Citodiagnóstico/métodos , Tumor Filoide/patología , Tumor Filoide/genética , Tumor Filoide/diagnóstico , Fibroadenoma/patología , Fibroadenoma/genética , Fibroadenoma/diagnóstico , Secuenciación de Nucleótidos de Alto Rendimiento , Carcinoma Intraductal no Infiltrante/patología , Carcinoma Intraductal no Infiltrante/genética , Carcinoma Intraductal no Infiltrante/diagnóstico , Persona de Mediana Edad , Citología
5.
BMJ Case Rep ; 17(3)2024 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-38453219

RESUMEN

We present a case of a transwoman taking hormonal feminisation therapy for over 20 years, who underwent surgical excision of a benign phyllodes tumour of the breast. Hormones progesterone and oestrogen act on breast epithelium to increase proliferation. For ciswomen, endogenous and exogenous oestrogen exposure over a lifetime is associated with increased risk for certain benign and malignant breast pathologies. Transwomen taking hormonal therapy may also be at an increased risk of breast disease.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Personas Transgénero , Femenino , Humanos , Mama/patología , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/patología , Estrógenos/efectos adversos , Tumor Filoide/inducido químicamente , Tumor Filoide/cirugía , Tumor Filoide/patología , Masculino
6.
BMJ Case Rep ; 17(3)2024 Mar 19.
Artículo en Inglés | MEDLINE | ID: mdl-38508594

RESUMEN

A young woman in her 20s was found to have a left breast malignant phyllodes tumour by ultrasound-guided core needle biopsy, after identifying a palpable lump. She then underwent lumpectomy excision with >1 cm gross margins; however, final pathology demonstrated <1 cm margins at the superior margin. She then underwent re-excision of superior and medial margins to ensure at least a 1 cm margin. Biopsy tract was not excised at initial or re-excision surgery. Approximately 6 weeks after completion lumpectomy, the patient noted a new palpable mass near the previous biopsy site and underwent punch biopsy. Final pathology of this new mass was concordant with early recurrence. The patient then underwent lumpectomy of the new mass along with excision of the overlying skin and biopsy tract with >1 cm margins.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Femenino , Humanos , Tumor Filoide/cirugía , Tumor Filoide/patología , Mama/patología , Mastectomía Segmentaria , Biopsia Guiada por Imagen , Estudios Retrospectivos , Enfermedad Crónica , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/patología , Recurrencia Local de Neoplasia/cirugía , Recurrencia Local de Neoplasia/patología
7.
Clin Transl Med ; 14(3): e1611, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38481388

RESUMEN

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.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Humanos , Femenino , Tumor Filoide/diagnóstico , Tumor Filoide/genética , Tumor Filoide/metabolismo , Transcriptoma/genética , Células del Estroma/metabolismo , Diferenciación Celular/genética , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Colágeno Tipo IV/genética , Colágeno Tipo IV/metabolismo
8.
Eur J Cancer ; 201: 113924, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38364628

RESUMEN

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.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Humanos , Femenino , Mastectomía , Tumor Filoide/epidemiología , Tumor Filoide/cirugía , Tumor Filoide/patología , Estudios Retrospectivos , Países Bajos/epidemiología , Estudios de Seguimiento , Recurrencia Local de Neoplasia/patología , Márgenes de Escisión , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/cirugía
9.
J Pathol ; 262(4): 480-494, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38300122

RESUMEN

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.


Asunto(s)
Neoplasias de la Mama , Fibroadenoma , Tumor Filoide , Humanos , Femenino , Tumor Filoide/diagnóstico , Tumor Filoide/genética , Tumor Filoide/patología , Metilación de ADN , Fibroadenoma/diagnóstico , Fibroadenoma/genética , Fibroadenoma/patología , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Mama/patología
10.
Oncol Res Treat ; 47(4): 145-148, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38382477

RESUMEN

INTRODUCTION: Phyllodes tumors belong to uncommon fibroepithelial breast tumors with a range of biological behaviors. Phyllodes tumors are responsible for less than 1 percent of all neoplasms of the breast. CASE PRESENTATION: A 66-year-old woman presented to our Breastcancer Unit in March 2021 because of a huge mass of her left breast with bleeding out of a tumor necrosis. Five years ago in 2016, a benign phyllodes tumor was diagnosed externally. When we started the treatment, the tumor had a weight of 18.6 kg. CONCLUSION: We describe the surgical management and the systemic treatment of metastatic disease.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Femenino , Humanos , Anciano , Tumor Filoide/cirugía , Tumor Filoide/diagnóstico , Tumor Filoide/patología , Mastectomía , Neoplasias de la Mama/cirugía
11.
BMJ Case Rep ; 17(2)2024 Feb 06.
Artículo en Inglés | MEDLINE | ID: mdl-38320829

RESUMEN

Fibroadenomas are the most common breast lesion in women of reproductive age. During pregnancy and lactation, fibroadenomas can undergo rapid growth in response to hormonal stimulus. These changes may prompt further investigation and/or intervention due to the risk of an underlying phyllodes tumour. We present a case of a female patient who underwent surgical excision of a giant fibroepithelial lesion at 4 months post partum while continuing to breastfeed. The lesion was successfully excised while maintaining lactation. A postoperative milk fistula resolved with non-operative management. There is limited literature on the surgical management of breast lesions in lactating women. This case illuminates the surgical management of breast lesions in an often well informed group of patients who may choose to have surgery while lactating in spite of the increased risk of complications. This case also highlights the need for a holistic approach to maintain the overall health of mother and child.


Asunto(s)
Neoplasias de la Mama , Fibroadenoma , Fibroma , Neoplasias Fibroepiteliales , Tumor Filoide , Embarazo , Niño , Femenino , Humanos , Fibroadenoma/cirugía , Fibroadenoma/patología , Lactancia , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/patología , Neoplasias Fibroepiteliales/patología , Mama/patología , Tumor Filoide/patología , Fibroma/patología
12.
Indian J Pathol Microbiol ; 67(1): 223-225, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38358228

RESUMEN

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.


Asunto(s)
Neoplasias de la Mama , Enfermedad Fibroquística de la Mama , Mioepitelioma , Tumor Filoide , Femenino , Humanos , Tumor Filoide/diagnóstico , Tumor Filoide/patología , Recurrencia Local de Neoplasia/patología , Enfermedad Fibroquística de la Mama/diagnóstico , Enfermedad Fibroquística de la Mama/patología , Células Epiteliales/patología , Hiperplasia/patología , Transformación Celular Neoplásica/patología , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/patología , Mioepitelioma/patología
13.
Clin Transl Oncol ; 26(7): 1613-1622, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38218916

RESUMEN

PURPOSE: To investigate the optimal surgical margin and prognostic risk factors for borderline and malignant phyllodes tumors (PTs). METHODS: A retrospective analysis was conducted on patients with borderline and malignant PTs at our hospital from 2011 to 2022. Univariate and multivariate Cox proportional hazard models were employed to analyze the effects of various variables on local recurrence-free survival (LRFS) and disease-free survival (DFS). RESULTS: This study comprised 150 patients, 85 classified as borderline and 65 as malignant. During a median follow-up of 66 months (range: 3-146 months), 34 cases (22.7%) experienced local recurrence, 9 cases (6.0%) exhibited distant metastasis, and 7 cases (4.7%) resulted in death. Irrespective of the histological subtypes, patients with surgical margins ≥ 1 cm exhibit significantly higher 5-year LRFS and 5-year DFS rates compared to those with margins < 1 cm. Among patients with initial margins < 1 cm, LRFS (P = 0.004) and DFS (P = 0.003) were improved in patients reoperated to achieve margins ≥ 1 cm. Surgical margin < 1 cm (HR = 2.567, 95%CI 1.137-5.793, P = 0.023) and age < 45 years (HR = 2.079, 95%CI 1.033-4.184, P = 0.040) were identified as independent risk factors for LRFS. Additionally, surgical margin < 1 cm (HR = 3.074, 95%CI 1.622-5.826, P = 0.001) and tumor size > 5 cm (HR = 2.719, 95%CI 1.307-5.656, P = 0.007) were determined to be independent risk factors for DFS. CONCLUSIONS: A negative surgical margin of at least 1 cm (with secondary resection if necessary) should be achieved for borderline and malignant PTs. Tumor size > 5 cm and age < 45 years were predictive of recurrence, suggesting multiple therapy modalities may be considered for these high-risk patients.


Asunto(s)
Neoplasias de la Mama , Márgenes de Escisión , Recurrencia Local de Neoplasia , Tumor Filoide , Humanos , Tumor Filoide/cirugía , Tumor Filoide/patología , Tumor Filoide/mortalidad , Femenino , Estudios Retrospectivos , Adulto , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/mortalidad , Persona de Mediana Edad , Pronóstico , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Adulto Joven , Adolescente , Supervivencia sin Enfermedad , Anciano , Modelos de Riesgos Proporcionales , Factores de Riesgo , Estudios de Seguimiento
14.
BMC Cancer ; 24(1): 48, 2024 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-38195454

RESUMEN

BACKGROUND: Phyllodes tumor (PT) is an fibroepithelial tumor with potential for local recurrence. The optimal margin for surgical resection of PT is still debated, particularly in cases of positive margins. This study aimed to identify the risk factors for phyllodes tumor recurrence and the effect of a free margin on tumor recurrence by considering these risk factors. MATERIALS AND METHODS: This is a retrospective observational study of patients diagnosed with PT who had undergone surgical management. The data were collected from medical records from 2001 to 2020 in the breast clinic of Shahid Motahhari Clinic of Shiraz. Patients were followed up for at least 3 years after the operation to be checked for local recurrence or distant metastasis at regular intervals. RESULTS: This retrospective study included 319 patients with PT who underwent surgical management. Of these patients, 83.9% (n = 267), 7.6% (n = 24), and 8.5% (n = 27) were classified as benign, borderline, and malignant, respectively. 8.8% of all patients and 7.6% of non-malignant cases experienced local recurrence, and risk factors for recurrence included oral contraceptive use, smoking, size > 4 cm, stromal overgrowth, and stromal cell atypia. A negative surgical margin decreased the prevalence of recurrence in tumors > 4 cm and with stromal overgrowth significantly. CONCLUSION: The study found that a negative margin in all patients did not reduce the recurrence rate in benign and borderline phyllodes tumors, suggesting close follow up as a reasonable alternative. However, a negative margin may be effective in reducing recurrence in certain high-risk groups.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Humanos , Femenino , Tumor Filoide/epidemiología , Tumor Filoide/cirugía , Estudios Retrospectivos , Recurrencia Local de Neoplasia/epidemiología , Células del Estroma , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/cirugía
15.
Clin Oncol (R Coll Radiol) ; 36(1): e31-e39, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38294995

RESUMEN

AIMS: Phyllodes tumours and breast sarcomas are uncommon tumours and their rarity poses significant challenges in diagnosis and management. This cross-sectional study was conducted to evaluate the multidisciplinary clinical practice for these tumours across the UK and Ireland, with the aim of identifying gaps in knowledge and providing direction for establishing national guidelines. MATERIALS AND METHODS: An international survey was adapted and circulated to breast and/or sarcoma surgeons and oncologists in the UK and Ireland through national organisations. Multidisciplinary team (MDT) responses were analysed anonymously. RESULTS: Twenty-eight MDTs participated in this study, predominately from high-volume units (85.5%). Although only 43% of the surveyed units were part of a trust that holds a sarcoma MDT, 68% of units managed malignant phyllodes and angiosarcoma, whereas 64.5% managed soft-tissue sarcoma of the breast. Across all subtypes, axillary surgery was recommended by 14-21% of the MDTs and the most recommended resection margins for breast surgery were 'no tumour on ink' in benign phyllodes (39%) and 10 mm in the remaining subtypes (25-29%). Immediate breast reconstruction was supported by 11-18% of MDTs for breast sarcoma subtypes, whereas 36% and 32% advocated this approach in benign and borderline phyllodes tumours, respectively. Adjuvant radiotherapy and chemotherapy were recommended by up to 29% and 11% of the MDTs, respectively. CONCLUSION: The results of this study demonstrate a wide variation in clinical practice across the surveyed MDTs. As only 28 MDTs participated in our study, with under-representation from low-volume units, our results might be an underestimation of the variability in practice across the UK and Ireland. This multi-institutional study sheds light on controversial aspects in the management of phyllodes tumours and breast sarcoma, identifies the need for national guidelines to inform best practice, and calls for the centralisation of the management of breast sarcoma within specialist centres.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Sarcoma , Neoplasias de los Tejidos Blandos , Humanos , Femenino , Tumor Filoide/epidemiología , Tumor Filoide/cirugía , Estudios Transversales , Irlanda/epidemiología , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/cirugía , Sarcoma/epidemiología , Sarcoma/cirugía , Reino Unido/epidemiología , Recurrencia Local de Neoplasia/patología
16.
Pathol Res Pract ; 254: 155100, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38277744

RESUMEN

Phyllodes tumor (PT) of the breast is a biphasic neoplasia composed of mesenchymal and epithelial cells. PTs are graded as benign, borderline or malignant according to histological criteria. Invasive lobular carcinoma (ILC) is a special breast cancer subtype defined by non-cohesive growth and loss of E-cadherin. PT is treated by resection. ILC is treated by resection and adjuvant endocrine therapy with or without chemotherapy. Collision tumors composed of PT and concurrent ILC are rare. Due to their dissociated growth, ILC cells may escape histologic detection when admixed with PTs. Here we report the case of a 71-years-old female diagnosed with a PT/ILC collision tumor. The patient presented with a tumor in the right breast. A core needle biopsy showed mesenchymal spindle cell proliferates suspicious for a PT. The resection specimen confirmed a malignant PT with stromal overgrowth. Unexpectedly, the resection specimen also revealed sparse infiltrates of ILC admixed with the PT. Immunohistochemistry of mesenchymal PT cells and ILC cells was consistent with the histomorphological diagnosis. Molecular analyses demonstrated a IDH1 variant of unknown significance and GNAS gene mutation in microdissected PT tissue. ILC tissue showed wild-type IDH1 and GNAS, but harbored CDH1/E-cadherin and TP53 gene mutations, arguing against clonal relatedness of the two lesions. Review of the literature identified six reported PT/ILC collision tumors, involving three benign, two borderline and one malignant PT. In summary, this is the second report on a malignant PT/ILC collision tumor. Correct histologic diagnosis of PT/ILC collision tumors is clinically relevant, because adjuvant endocrine therapy is mandatory for ILC.


Asunto(s)
Neoplasias de la Mama , Carcinoma Lobular , Tumor Filoide , Femenino , Humanos , Anciano , Tumor Filoide/genética , Tumor Filoide/patología , Neoplasias de la Mama/patología , Mama/patología , Biopsia con Aguja Gruesa , Cadherinas/genética , Carcinoma Lobular/genética , Carcinoma Lobular/terapia , Carcinoma Lobular/patología
17.
J Pediatr Adolesc Gynecol ; 37(1): 89-92, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37543241

RESUMEN

BACKGROUND: Malignant phyllodes tumor (MPT) is a rare breast disease that is extremely rare in children. A few cases of pediatric malignant phyllodes tumors have been reported, including some with a poor prognosis. CASE: A 14-year-old girl presented with a growing lump on her right breast. On the basis of imaging tests and a core needle biopsy, MPT was diagnosed, and right mastectomy was performed. The postoperative course was uneventful. SUMMARY AND CONCLUSION: MPT is an infrequent disease in adult females and is extremely rare in pubertal females. It occasionally shows rapid growth, metastasis, and recurrence with a poor prognosis. Early surgical resection is necessary to obtain a cure. When a rapidly growing breast tumor is observed in pubertal females, MPT should be considered.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Adulto , Femenino , Humanos , Niño , Adolescente , Tumor Filoide/cirugía , Tumor Filoide/diagnóstico , Tumor Filoide/patología , Mastectomía/métodos , Neoplasias de la Mama/cirugía , Mama/patología , Recurrencia Local de Neoplasia/cirugía
18.
Histopathology ; 84(2): 409-411, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37706238

RESUMEN

A malignant neoplasm with spindle cell and chondroid differentiation in the breast, metastatic to lymph node. In this context, a metaplastic carcinoma is typically favored given the exceptional nature of lymph node metastases in malignant phyllodes tumors (MPT). However, we demonstrate pathognomonic hotspot mutations in MED12 and the promoter of the TERT gene by targeted next-generation DNA sequencing, supporting a diagnosis of MPT.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Humanos , Femenino , Metástasis Linfática/diagnóstico , Metástasis Linfática/genética , Tumor Filoide/diagnóstico , Tumor Filoide/genética , Tumor Filoide/patología , Mutación , ADN , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Análisis de Secuencia de ADN
19.
Int J Surg Pathol ; 32(2): 223-229, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37157807

RESUMEN

Background. Fibroadenoma (FA) and benign phyllodes tumor (PT) of the breast often have similar appearances on imaging. While an exact diagnosis of biopsy specimens is required to choose adequate treatment, including surgical procedures, it is sometimes difficult to pathologically differentiate these 2 tumors due to histological resemblances. To elucidate markers for distinguishing FA from benign PT, we analyzed clinical samples immunohistochemically. Methods. We retrospectively investigated 80 breast fibroepithelial lesions. As a discovery set, 60 surgical excision samples (30 FA and 30 benign PT) were examined. Twenty biopsy samples (10 FA and 10 benign PT) were examined as a validation set. To determine targets for immunohistochemistry, we first tested some proteins based on previous reports. As a result, Ki67 was chosen for differentiating FA and PT; thus further examinations were conducted with this protein. Results. Among the proteins examined, stromal Ki67 was significantly higher in PT than in FA. Benign PT had significantly higher stromal Ki67 expression both at random and at hotspots (p < .001 and <.001, respectively). The receiver operating characteristic curve analysis identified 3.5% and 8.5% (at random spots and hotspots, respectively) as the optimal cutoff values of stromal Ki67 for distinguishing between these 2 tumors. In the validation cohort employing needle biopsy specimens, we confirmed that these 2 cutoff values properly classified these 2 tumors (p = .043 and .029, respectively). Conclusion.We revealed that stromal Ki67 might be a potential marker for distinguishing FA from benign PT.


Asunto(s)
Neoplasias de la Mama , Fibroadenoma , Fibroma , Tumor Filoide , Humanos , Femenino , Antígeno Ki-67 , Tumor Filoide/diagnóstico , Fibroadenoma/diagnóstico , Estudios Retrospectivos , Neoplasias de la Mama/diagnóstico
20.
Anticancer Drugs ; 35(2): 203-208, 2024 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-38085253

RESUMEN

Phyllodes tumors (PTs) are rare breast tumors characterized by varying biological behavior and heterogeneous clinical findings. As a result, accurately diagnosing PTs preoperatively is challenging, often leading to misdiagnosis. A 49-year-old patient presented with a steadily growing right breast mass that had persisted over a 10-year period. Breast mammography and ultrasonography results indicated the presence of a PT. Following a lumpectomy, the patient was diagnosed with a borderline PT. However, nearly 1 year later, she was readmitted due to the recurrence of a palpable mass at the site. Consequently, 1 year and 8 months after the initial operation, she underwent thoracoscopic lobectomy to address solitary lung metastases. Subsequently, the patient experienced brain metastasis and massive hemorrhage 14 months later. Long-term follow-up was recommended. This case study presents an instance of borderline PT with clinical and imaging features that are crucial for guiding clinical operations and evaluating patient prognosis.


Asunto(s)
Neoplasias de la Mama , Tumor Filoide , Femenino , Humanos , Persona de Mediana Edad , Tumor Filoide/diagnóstico por imagen , Tumor Filoide/cirugía , Recurrencia Local de Neoplasia/patología , Mastectomía/métodos , Pronóstico , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/cirugía
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