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1.
PLoS One ; 19(5): e0294923, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38758814

RESUMO

BACKGROUND: The workload of breast cancer pathological diagnosis is very heavy. The purpose of this study is to establish a nomogram model based on pathological images to predict the benign and malignant nature of breast diseases and to validate its predictive performance. METHODS: In retrospect, a total of 2,723 H&E-stained pathological images were collected from 1,474 patients at Qingdao Central Hospital between 2019 and 2022. The dataset consisted of 509 benign tumor images (adenosis and fibroadenoma) and 2,214 malignant tumor images (infiltrating ductal carcinoma). The images were divided into a training set (1,907) and a validation set (816). Python3.7 was used to extract the values of the R channel, G channel, B channel, and one-dimensional information entropy from all images. Multivariable logistic regression was used to select variables and establish the breast tissue pathological image prediction model. RESULTS: The R channel value, B channel value, and one-dimensional information entropy of the images were identified as independent predictive factors for the classification of benign and malignant pathological images (P < 0.05). The area under the curve (AUC) of the nomogram model in the training set was 0.889 (95% CI: 0.869, 0.909), and the AUC in the validation set was 0.838 (95% CI: 0.7980.877). The calibration curve results showed that the calibration curve of this nomogram model was close to the ideal curve. The decision curve results indicated that the predictive model curve had a high value for auxiliary diagnosis. CONCLUSION: The nomogram model for the prediction of benign and malignant breast diseases based on pathological images demonstrates good predictive performance. This model can assist in the diagnosis of breast tissue pathological images.


Assuntos
Neoplasias da Mama , Humanos , Feminino , Neoplasias da Mama/patologia , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/diagnóstico , Pessoa de Meia-Idade , Adulto , Nomogramas , Fibroadenoma/patologia , Fibroadenoma/diagnóstico por imagem , Fibroadenoma/diagnóstico , Estudos Retrospectivos , Mama/patologia , Mama/diagnóstico por imagem , Idoso
2.
S Afr J Surg ; 62(1): 83-85, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38568132

RESUMO

SUMMARY: Isolated incidences of human cysticercosis have been reported world-wide, but it remains a major public health concern in endemic areas such as Mexico, Africa, South-East Asia, Eastern Europe, and South America. Cysticercosis most commonly involves the skeletal muscle, subcutaneous tissue, brain, and eyes. The breast is an uncommon site of presentation for cysticercosis. Due to its rare occurrence, breast cysticercosis is often initially mistaken for other common breast lesions such as cysts, abscess, malignant tumours and fibroadenomas. We report a case of breast cysticercosis in a young South African woman.


Assuntos
Mama , Cisticercose , Fibroadenoma , Feminino , Humanos , África , Mama/diagnóstico por imagem , Mama/parasitologia , Cisticercose/diagnóstico por imagem
3.
Acta Cytol ; 68(2): 145-152, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38555634

RESUMO

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.


Assuntos
Neoplasias da Mama , Humanos , Neoplasias da Mama/patologia , Neoplasias da Mama/genética , Neoplasias da Mama/diagnóstico , Feminino , Biópsia por Agulha Fina/métodos , Biópsia Líquida , DNA de Neoplasias/análise , DNA de Neoplasias/genética , Citodiagnóstico/métodos , Tumor Filoide/patologia , Tumor Filoide/genética , Tumor Filoide/diagnóstico , Fibroadenoma/patologia , Fibroadenoma/genética , Fibroadenoma/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala , Carcinoma Intraductal não Infiltrante/patologia , Carcinoma Intraductal não Infiltrante/genética , Carcinoma Intraductal não Infiltrante/diagnóstico , Pessoa de Meia-Idade , Citologia
4.
J Breast Imaging ; 6(3): 254-260, 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38554256

RESUMO

OBJECTIVE: Fibroadenomas (FAs) involved by atypia are rare. Consensus guidelines for management of FAs involved by atypia when diagnosed on image-guided biopsy do not exist because of limited data reporting surgical upgrade rates to ductal carcinoma in situ (DCIS) or invasive malignancy. Therefore, these lesions commonly undergo surgical excision. METHODS: This single-institution retrospective study identified cases of FAs involved by atypical ductal hyperplasia (ADH), atypical lobular hyperplasia (ALH), and/or lobular carcinoma in situ (LCIS) diagnosed on image-guided biopsy between January 2014 and April 2023 to determine upgrade rates. Cases with incidental atypia adjacent to but not involving FAs were excluded. RESULTS: Among 1736 FAs diagnosed on image-guided biopsy, 32 cases (1.8%) were FAs involved by atypia including 43.8% (14/32) ALH, 28.1% (9/32) ADH, 18.8% (6/32) LCIS, 6.3% (2/32) LCIS + ALH, and 3.1% (1/32) unspecified atypia. The most common imaging finding was a mass. Most cases, 81.3% (26/32), underwent subsequent surgical excisional biopsy. A single case of ADH involving and adjacent to an FA was upgraded to FA involved by low-grade DCIS on excision for an overall surgical upgrade rate of 3.8%. There were no cases upgraded to invasive malignancy. For those omitting surgical excision, there was no subsequent malignancy diagnosis at the FA biopsy site over a mean follow-up of 73 months. CONCLUSION: Cases of radiologic-pathologic concordant FAs involved by atypia have a low upgrade rate of 3.8% and should undergo multidisciplinary review. Larger multi-institutional analysis is needed to determine whether guidelines for excision of atypia should apply to atypia involving FAs.


Assuntos
Neoplasias da Mama , Fibroadenoma , Biópsia Guiada por Imagem , Humanos , Fibroadenoma/patologia , Fibroadenoma/cirurgia , Estudos Retrospectivos , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Neoplasias da Mama/diagnóstico , Feminino , Pessoa de Meia-Idade , Adulto , Carcinoma Intraductal não Infiltrante/patologia , Carcinoma Intraductal não Infiltrante/cirurgia , Carcinoma Intraductal não Infiltrante/diagnóstico , Idoso , Mamografia , Hiperplasia/patologia , Hiperplasia/cirurgia , Mama/patologia , Mama/cirurgia , Mama/diagnóstico por imagem
5.
World J Surg ; 48(5): 1177-1182, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38498009

RESUMO

BACKGROUND: We evaluated the effectiveness of Ormeloxifene (Centchroman) on regression of Fibroadenoma in a double-blind randomized controlled trial. METHODS: Patients with biopsy proven Fibroadenoma were enrolled between March 2023 and October 2023 and divided in two arms- Ormeloxifene group and Placebo group. Effectiveness of the treatment was evaluated using USG. No residual mass was defined as complete regression and more than 30% decrease in size was considered as partial regression. RESULTS: A total of 130 consecutive patients with Fibroadenoma were randomized to Ormeloxifene group (n = 65) and Placebo Group (n = 65). Complete regression was observed in 9% (6/65) patients in Ormeloxifene group and 10.8% (7/65) in Placebo Group at the end of 12 weeks (p = 0.49). Twenty one patients taking Ormeloxifene reported adverse events as compared to none in the other group. CONCLUSION: In our study Ormeloxifene was not found to be effective in treatment of fibroadenoma and had concerning side effects.


Assuntos
Neoplasias da Mama , Centocromano , Fibroadenoma , Humanos , Feminino , Fibroadenoma/tratamento farmacológico , Fibroadenoma/patologia , Método Duplo-Cego , Adulto , Resultado do Tratamento , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/patologia , Centocromano/uso terapêutico , Pessoa de Meia-Idade , Adulto Jovem , Benzopiranos
6.
BMJ Case Rep ; 17(2)2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38320829

RESUMO

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.


Assuntos
Neoplasias da Mama , Fibroadenoma , Fibroma , Neoplasias Fibroepiteliais , Tumor Filoide , Gravidez , Criança , Feminino , Humanos , Fibroadenoma/cirurgia , Fibroadenoma/patologia , Lactação , Neoplasias da Mama/cirurgia , Neoplasias da Mama/patologia , Neoplasias Fibroepiteliais/patologia , Mama/patologia , Tumor Filoide/patologia , Fibroma/patologia
7.
J Pathol ; 262(4): 480-494, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38300122

RESUMO

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.


Assuntos
Neoplasias da Mama , Fibroadenoma , Tumor Filoide , Humanos , Feminino , Tumor Filoide/diagnóstico , Tumor Filoide/genética , Tumor Filoide/patologia , Metilação de DNA , Fibroadenoma/diagnóstico , Fibroadenoma/genética , Fibroadenoma/patologia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Mama/patologia
8.
BMC Womens Health ; 24(1): 87, 2024 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-38310239

RESUMO

BACKGROUND: Approximately 50% of breast mucinous carcinomas (MCs) are oval and have the possibility of being misdiagnosed as fibroadenomas (FAs). We aimed to identify the key features that can help differentiate breast MC with an oval shape from FA on ultrasonography (US). METHODS: Seventy-six MCs from 71 consecutive patients and 50 FAs with an oval shape from 50 consecutive patients were included in our study. All lesions pathologically diagnosed. According to the Breast Imaging Reporting and Data System (BI-RADS), first, the ultrasonographic features of the MCs and FAs were recorded and a final category was assessed. Then, the differences in ultrasonographic characteristics between category 4 A (low-risk group) and category 4B-5 (medium-high- risk group) MCs were identified. Finally, other ultrasonographic features of MC and FA both with an oval shape were compared to determine the key factors for differential diagnosis. The Mann-Whitney test, χ2 test or Fisher's exact test was used to compare data between groups. RESULTS: MCs with an oval shape (81.2%) and a circumscribed margin (25%) on US were more commonly assessed in the low-risk group (BI-RADS 4 A) than in the medium-high-risk group (BI-RADS 4B-5) (20%, p < 0.001 and 0%, p = 0.001, respectively). Compared with those with FA, patients with MC were older, and tended to have masses with non-hypoechoic patterns, not circumscribed margins, and a posterior echo enhancement on US (p < 0.001, p < 0.001, and p = 0.003, respectively). CONCLUSION: The oval shape was the main reason for the underestimation of MCs. On US, an oval mass found in the breast of women of older age with non-hypoechoic patterns, not circumscribed margins, and a posterior echo enhancement was associated with an increased risk of being an MC, and should be subjected to active biopsy.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias da Mama , Fibroadenoma , Feminino , Humanos , Diagnóstico Diferencial , Fibroadenoma/diagnóstico , Ultrassonografia Mamária/métodos , Neoplasias da Mama/diagnóstico , Adenocarcinoma Mucinoso/diagnóstico por imagem , Estudos Retrospectivos
10.
J Int Med Res ; 52(1): 3000605231223026, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38258790

RESUMO

Treatment of multiple benign breast nodules is sometimes challenging with respect to establishing a surgical plan that achieves both therapeutic and cosmetic goals. Successful application of oncoplastic techniques has been reported in selected cases of benign breast lesions. In this case report, we present the surgical treatment and outcome of a patient with multiple fibroadenomas in ptotic and voluminous breasts. A combined procedure of extensive glandular resection and reduction mammoplasty using a modified vertical pedicle technique was performed on this patient, who desired complete lesion removal, volume reduction, and mastopexy. The cosmetic result was satisfactory at both the short- and mid-term follow-up. In addition, different techniques applied in the treatment of breast fibroadenoma are herein reviewed and discussed.


Assuntos
Blefaroptose , Neoplasias da Mama , Fibroadenoma , Mamoplastia , Humanos , Feminino , Fibroadenoma/diagnóstico por imagem , Fibroadenoma/cirurgia , Mama/diagnóstico por imagem , Mama/cirurgia , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/cirurgia
11.
Biomed Eng Online ; 23(1): 5, 2024 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-38221632

RESUMO

BACKGROUND: Breast fibroadenoma poses a significant health concern, particularly for young women. Computer-aided diagnosis has emerged as an effective and efficient method for the early and accurate detection of various solid tumors. Automatic segmentation of the breast fibroadenoma is important and potentially reduces unnecessary biopsies, but challenging due to the low image quality and presence of various artifacts in sonography. METHODS: Human learning involves modularizing complete information and then integrating it through dense contextual connections in an intuitive and efficient way. Here, a human learning paradigm was introduced to guide the neural network by using two consecutive phases: the feature fragmentation stage and the information aggregation stage. To optimize this paradigm, three fragmentation attention mechanisms and information aggregation mechanisms were adapted according to the characteristics of sonography. The evaluation was conducted using a local dataset comprising 600 breast ultrasound images from 30 patients at Suining Central Hospital in China. Additionally, a public dataset consisting of 246 breast ultrasound images from Dataset_BUSI and DatasetB was used to further validate the robustness of the proposed network. Segmentation performance and inference speed were assessed by Dice similarity coefficient (DSC), Hausdorff distance (HD), and training time and then compared with those of the baseline model (TransUNet) and other state-of-the-art methods. RESULTS: Most models guided by the human learning paradigm demonstrated improved segmentation on the local dataset with the best one (incorporating C3ECA and LogSparse Attention modules) outperforming the baseline model by 0.76% in DSC and 3.14 mm in HD and reducing the training time by 31.25%. Its robustness and efficiency on the public dataset are also confirmed, surpassing TransUNet by 0.42% in DSC and 5.13 mm in HD. CONCLUSIONS: Our proposed human learning paradigm has demonstrated the superiority and efficiency of ultrasound breast fibroadenoma segmentation across both public and local datasets. This intuitive and efficient learning paradigm as the core of neural networks holds immense potential in medical image processing.


Assuntos
Neoplasias da Mama , Fibroadenoma , Humanos , Feminino , Fibroadenoma/diagnóstico por imagem , Aprendizagem , Ultrassonografia , Ultrassonografia Mamária , Neoplasias da Mama/diagnóstico por imagem , Redes Neurais de Computação , Processamento de Imagem Assistida por Computador
13.
Int J Surg Pathol ; 32(2): 223-229, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37157807

RESUMO

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.


Assuntos
Neoplasias da Mama , Fibroadenoma , Fibroma , Tumor Filoide , Humanos , Feminino , Antígeno Ki-67 , Tumor Filoide/diagnóstico , Fibroadenoma/diagnóstico , Estudos Retrospectivos , Neoplasias da Mama/diagnóstico
14.
Clin Nucl Med ; 49(2): e61-e64, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38049971

RESUMO

ABSTRACT: Prostate-specific membrane antigen PET imaging has revolutionized the role of prostate cancer diagnosis and management, with very high sensitivity and specificity. To prevent misdiagnosis and for accurate therapy planning, prostate-specific membrane antigen (PSMA) uptake in nonprostatic diseases needs to be recognized correctly. Besides the physiological PSMA expression, 68 Ga-PSMA-11 uptake has been mentioned in multiple oncological and nononcological lesions. The present case report exhibits 68 Ga-PSMA-11 uptake in fibroadenoma in a male accessory breast in the right axillary region.


Assuntos
Neoplasias da Mama , Fibroadenoma , Neoplasias da Próstata , Humanos , Masculino , Isótopos de Gálio , Fibroadenoma/diagnóstico por imagem , Oligopeptídeos , Radioisótopos de Gálio , Neoplasias da Próstata/patologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Ácido Edético
15.
Magn Reson Imaging ; 106: 8-17, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38035946

RESUMO

PURPOSE: To investigate the utility of whole-tumor histogram analysis based on multiparametric MRI in distinguishing pure mucinous breast carcinomas (PMBCs) from fibroadenomas (FAs) with strong high-signal intensity on T2-weighted imaging (T2-SHi). MATERIAL AND METHODS: The study included 20 patients (mean age, 55.80 ± 15.54 years) with single PBMCs and 29 patients (mean age, 42.31 ± 13.91 years) with single FAs exhibiting T2-SHi. A radiologist performed whole-tumor histogram analysis between PBMC and FA groups with T2-SHi using multiparametric MRI, including T2-weighted imaging (T2WI), diffusion weighted imaging (DWI) with apparent diffusion coefficient (ADC) maps, and the first (DCE_T1) and last (DCE_T4) phases of T1-weighted dynamic contrast-enhanced imaging (DCE) images, to extract 11 whole-tumor histogram parameters. Histogram parameters were compared between the two groups to identify significant variables using univariate analyses, and their diagnostic performance was assessed by receiver operating characteristic (ROC) curve analysis and logistic regression analyses. In addition, 15 breast lesions were randomly selected and histogram analysis was repeated by another radiologist to assess the intraclass correlation coefficient for each histogram feature. Pearson's correlation coefficients were used to analyze the correlations between histogram parameters and Ki-67 expression of PMBCs. RESULTS: For T2WI images, mean, median, maximum, 90th percentile, variance, uniformity, and entropy significantly differed in PBMCs and FAs with T2-SHi (all P < 0.05), yielding a combined area under the curve (AUC) of 0.927. For ADC maps, entropy was significantly lower in FAs with T2-SHi than in PMBCs (P = 0.03). In both DCE_T1 and DCE_T4 sequences, FAs with T2-SHi showed significantly higher minimum values than PBMCs (P = 0.007 and 0.02, respectively). The highest AUC value of 0.956 (sensitivity, 0.862; specificity, 0.944; positive predictive value, 0.962; negative predictive value, 0.810) was obtained when all significant histogram parameters were combined. CONCLUSIONS: Whole-tumor histogram analysis using multiparametric MRI is valuable for differentiating PBMCs from FAs with T2-SHi.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias da Mama , Carcinoma Ductal de Mama , Fibroadenoma , Imageamento por Ressonância Magnética Multiparamétrica , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Feminino , Fibroadenoma/diagnóstico por imagem , Leucócitos Mononucleares/patologia , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Imagem de Difusão por Ressonância Magnética/métodos , Curva ROC , Adenocarcinoma Mucinoso/diagnóstico por imagem , Adenocarcinoma Mucinoso/patologia , Neoplasias da Mama/diagnóstico por imagem
16.
Acta Cir Bras ; 38: e386823, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38055384

RESUMO

PURPOSE: To determine molecular events involved in the tumorigenesis of phyllodes tumors (PT) and the role of each stromal (SC) and epithelial (EC) cell. METHODS: Frozen breast samples enriched with epithelial and stromal cells from three fibroadenomas and 14 PT were retrieved and laser microdissected. Sanger and polymerase chain reaction-based sequencing of exon 2 MED12 and TERT promoter hotspot mutations were performed; 44K microarray platform was used to analyze gene expression. RESULTS: All three fibroadenomas (FAs) presented mutations in MED12, but not in TERT, whose mutation was observed in five of the 14 PTs. EC and SC of each affected tumor displayed identical alterations. Of the total differentially expressed genes (DEG) (EC = 1,543 and SC = 850), 984 were EC-eDEGs and 291 were SC-eDEGs. We found a high similarity of diseases and functions enriched by both cell types, but dissimilarity in the number of enriched canonical pathways. Three signaling canonical pathways overlapping with EC and SC were predicted to be activated in one cell type and inactivated in the other, while no overlap in eDEGs was assigned to them. We also identified 13 EC-eDEGs and five SC-eDEGs enriched networks, in which the SC-eDEGs were able to segregate FA from PT samples. CONCLUSIONS: Identical TERT mutations from both SC and ES origins might affect the PTs tumorigenesis. Gene expression differences suggest coordinated molecular processes between these components with determinant differences acquired by SC, able to fully distinguish PTs from FAs lesions.


Assuntos
Neoplasias da Mama , Fibroadenoma , Tumor Filoide , Humanos , Feminino , Tumor Filoide/genética , Tumor Filoide/patologia , Fibroadenoma/genética , Fibroadenoma/patologia , Complexo Mediador/genética , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Células Estromais/patologia , Carcinogênese
17.
J Breast Imaging ; 5(6): 703-711, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38141235

RESUMO

Breast tubular adenomas (TAs) are rare, benign glandular epithelial tumors that arise from a proliferation of acini in the terminal duct lobular units. In the literature, 40 TA cases have previously been reported, and we describe 5 additional cases in this article. In the small number of reported cases, TAs present most often in women of reproductive age but may also occur in postmenopausal women. Mammographically and sonographically, TAs are almost indistinguishable from fibroadenomas (FAs), and they typically present on US as hypoechoic, oval, circumscribed, parallel masses with variable internal vascularity. TAs can also be seen on mammography as oval masses with microlobulated margins, or as grouped coarse, heterogeneous microcalcifications with or without associated mass or asymmetry. On MRI, TAs present as heterogeneously enhancing, T2-hyperintense oval masses with persistent kinetics. Histopathologically, TAs consist of closely packed round tubules with minimal stroma, in distinction to FAs, which have a prominent stromal component that surrounds and can distort the associated tubules. Because of their benign classification and excellent prognosis, patients with biopsy-confirmed TAs may resume routine screening. Complete surgical excision may be considered for cosmetic purposes or for TAs exhibiting associated suspicious calcifications or rapid growth.


Assuntos
Adenoma , Neoplasias da Mama , Calcinose , Fibroadenoma , Humanos , Feminino , Mama/patologia , Neoplasias da Mama/diagnóstico por imagem , Mamografia , Calcinose/diagnóstico por imagem , Fibroadenoma/diagnóstico por imagem , Adenoma/diagnóstico por imagem
18.
Curr Probl Pediatr Adolesc Health Care ; 53(7): 101441, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37914550

RESUMO

Breast masses are infrequently encountered in pediatric and adolescent populations. Most breast masses in children are benign entities arising from embryological defects which can be managed once breast development is complete. Diagnostic and management dilemmas arise when fibroepithelial lesions of the breast are seen in clinical practice. Differentiation between a fibroadenoma and a phyllodes tumor is important to guide management. Breast cancer in children under 18 years of age is extremely rare and invasive diagnostic testing and aggressive management is only recommended when clinical suspicion of malignancy is very high. Patient and caregiver counseling plays an important role in the management of these diseases. While adult-onset breast diseases have been studied very closely, there is a dearth of literature on pediatric breast anomalies. This review aims to provide a scoping overview of the available literature on benign, fibroepithelial, and malignant lesions of the breast in pediatric and adolescent populations to help guide physicians and surgeons with decision-making regarding the diagnosis and management of pediatric breast diseases.


Assuntos
Doenças Mamárias , Neoplasias da Mama , Fibroadenoma , Tumor Filoide , Adolescente , Criança , Feminino , Humanos , Mama , Doenças Mamárias/diagnóstico , Doenças Mamárias/terapia , Doenças Mamárias/patologia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/terapia , Neoplasias da Mama/patologia , Fibroadenoma/diagnóstico , Fibroadenoma/terapia , Fibroadenoma/patologia , Tumor Filoide/diagnóstico , Tumor Filoide/patologia
19.
Anal Chim Acta ; 1283: 341897, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37977771

RESUMO

BACKGROUND: Breast fibroadenomas and phyllodes tumors are both fibroepithelial tumors with comparable histological characteristics. However, rapid and precise differential diagnosis is a tough point in clinical pathology. Given the tendency of phyllodes tumors to recur, the difficulty in differential diagnosis with fibroadenomas leads to the difficulty in optimal management for these patients. METHOD: In this study, we used Raman spectroscopy to differentiate phyllodes tumors from breast fibroadenomas based on the biochemical and metabolic composition and develop a classification model. The model was validated by 5-fold cross-validation in the training set and tested in an independent test set. The potential metabolic differences between the two types of tumors observed in Raman spectroscopy were confirmed by targeted metabolomic analysis using liquid chromatography-tandem mass spectrometry (LC-MS/MS). RESULTS: A total of 204 patients with formalin-fixed paraffin-embedded (FFPE) tissue samples, including 100 fibroadenomas and 104 phyllodes tumors were recruited from April 2014 to August 2021. All patients were randomly divided into the training cohort (n = 153) and the test cohort (n = 51). The Raman classification model could differentiate phyllodes tumor versus fibroadenoma with cross-validation accuracy, sensitivity, precision, and area under curve (AUC) of 85.58 % ± 1.77 %, 83.82 % ± 1.01 %, 87.65 % ± 4.22 %, and 93.18 % ± 1.98 %, respectively. When tested in the independent test set, it performed well with the test accuracy, sensitivity, specificity, and AUC of 83.50 %, 86.54 %, 80.39 %, and 90.71 %. Furthermore, the AUC was significantly higher for the Raman model than that for ultrasound (P = 0.0017) and frozen section diagnosis (P < 0.0001). When it came to much more difficult diagnosis between fibroadenoma and benign or small-size phyllodes tumor for pathological examination, the Raman model was capable of differentiating with AUC up to 97.45 % and 95.61 %, respectively. On the other hand, targeted metabolomic analysis, based on fresh-frozen tissue samples, confirmed the differential metabolites (including thymine, dihydrothymine, trans-4-hydroxy-l-proline, etc.) identified from Raman spectra between phyllodes tumor and fibroadenoma. SIGNIFICANCE AND NOVELTY: In this study, we obtained the molecular information map of breast phyllodes tumors provided by Raman spectroscopy for the first time. We identified a novel Raman fingerprint signature with the potential to precisely characterize and distinguish phyllodes tumors from fibroadenoma as a quick and accurate diagnostic tool. Raman spectroscopy is expected to further guide the precise diagnosis and optimal treatment of breast fibroepithelial tumors in the future.


Assuntos
Neoplasias da Mama , Fibroadenoma , Neoplasias Fibroepiteliais , Tumor Filoide , Humanos , Feminino , Tumor Filoide/diagnóstico , Tumor Filoide/metabolismo , Tumor Filoide/patologia , Fibroadenoma/diagnóstico , Fibroadenoma/metabolismo , Fibroadenoma/patologia , Análise Espectral Raman , Cromatografia Líquida , Espectrometria de Massas em Tandem , Neoplasias da Mama/patologia
20.
Radiographics ; 43(11): e230051, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37856317

RESUMO

Fibroepithelial lesions (FELs) are among the most common breast masses encountered by breast radiologists and pathologists. They encompass a spectrum of benign and malignant lesions, including fibroadenomas (FAs) and phyllodes tumors (PTs). FAs are typically seen in young premenopausal women, with a peak incidence at 20-30 years of age, and have imaging features of oval circumscribed hypoechoic masses. Although some FA variants are especially sensitive to hormonal influences and can exhibit rapid growth (eg, juvenile FA and lactational adenomas), most simple FAs are slow growing and involute after menopause. PTs can be benign, borderline, or malignant and are more common in older women aged 40-50 years. PTs usually manifest as enlarging palpable masses and are associated with a larger size and sometimes with an irregular shape at imaging compared with FAs. Although FA and FA variants are typically managed conservatively unless large and symptomatic, PTs are surgically excised because of the risk of undersampling at percutaneous biopsy and the malignant potential of borderline and malignant PTs. As a result of the overlap in imaging and histologic appearances, FELs can present a diagnostic challenge for the radiologist and pathologist. Radiologists can facilitate accurate diagnosis by supplying adequate tissue sampling and including critical information for the pathologist at the time of biopsy. Understanding the spectrum of FELs can facilitate and guide appropriate radiologic-pathologic correlation and timely diagnosis and management of PTs. Published under a CC BY 4.0 license. Online supplemental material is available for this article. Quiz questions for this article are available through the Online Learning Center.


Assuntos
Neoplasias da Mama , Fibroadenoma , Tumor Filoide , Feminino , Humanos , Idoso , Mama/diagnóstico por imagem , Mama/patologia , Fibroadenoma/diagnóstico por imagem , Tumor Filoide/diagnóstico por imagem , Tumor Filoide/patologia , Biópsia , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/terapia , Neoplasias da Mama/patologia
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