ABSTRACT
Melanoma is the second most common non-hematopoietic malignancy after carcinomas to metastasize to the breast and often appears as a well-circumscribed, dense nodule on imaging. Although metastatic lesions presenting as bilateral cysts have been reported, this presentation is not common and may mimic benign breast cysts. We present a challenging case of metastatic melanoma presenting as bilateral breast cysts with spindled cytomorphology in a patient with a history of mammary carcinoma. Discordance between the spindled cytomorphology and the morphology of the core biopsy, which was similar to the patient's primary breast cancer, allowed for entertainment of other tumors and disease processes. Confirmatory immunostaining of the cytology material with HMB-45 was important to establish the diagnosis of metastatic melanoma. Diagn. Cytopathol. 2017;45:446-451. © 2017 Wiley Periodicals, Inc.
Subject(s)
Biomarkers, Tumor/genetics , Breast Cyst/diagnosis , Breast Neoplasms/diagnosis , Melanoma/diagnosis , Skin Neoplasms/diagnosis , Biopsy, Large-Core Needle , Breast Cyst/genetics , Breast Cyst/pathology , Breast Neoplasms/genetics , Breast Neoplasms/secondary , Diagnosis, Differential , Female , Humans , Immunohistochemistry , MART-1 Antigen/genetics , Melanoma/genetics , Melanoma/secondary , Melanoma-Specific Antigens/genetics , Middle Aged , S100 Proteins/genetics , Skin Neoplasms/genetics , Skin Neoplasms/pathology , gp100 Melanoma AntigenABSTRACT
En 1992 el Colegio Americano de Radiología (ACR) publicó la primera edición del breast imaging reporting and data system (BI-RADS(R)), un sistema para clasificar los hallazgos mamográficos. Desde entonces se ha convertido en una herramienta fundamental en: la descripción de los hallazgos por imagen de la mama, la asignación en categorías diagnósticas estableciendo el grado de sospecha, la actitud a seguir en cada caso y la estandarización del informe radiológico. Los cambios principales de la 5.a edición del BI-RADS(R) tienen como objeto dar más flexibilidad en situaciones donde las ediciones pasadas creaban confusión. La nueva edición ha introducido cambios en el léxico radiológico, en la estandarización del informe, en la monitorización de los resultados y en el manejo del paciente en algunas situaciones clínicas. Para facilitar la comprensión del informe radiológico, algunos descriptores se han eliminado y otros se han modificado. También se han unificado los descriptores de determinados hallazgos en los distintos métodos de imagen (mamografía, ultrasonidos y resonancia magnética). En cuanto a la categoría BI-RADS(R), ahora los radiólogos pueden añadir información adicional y especificar si se debe hacer biopsia en lugar de seguimiento en base a circunstancias clínicas. En el atlas se incluye un mayor número de imágenes y citas bibliográficas (AU)
The breast imaging reporting and data system (BI-RADS(R)) was first published by the American College of Radiology in 1992, with the objective of classifying mammographic findings. Since then, it has become an essential tool for the description of imaging findings in breast lesions, the determination of diagnostic categories to establish the degree of suspicion, the approach to be taken, and the standardization of the radiology report. The main changes in the 5.th edition aim to provide greater flexibility in those situations that gave rise to confusion in the previous editions. The new edition has introduced changes in the radiological lexicon, report standardization, monitoring of the results and management of the patient in specific clinical situations. To simplify the report, some descriptors have been eliminated and others have been modified. Additionally, some descriptors have been unified among different imaging techniques (mammography, ultrasound and magnetic resonance). Concerning BI-RADS(R) category, radiologists can now add additional information to specify if a biopsy should be performed instead of clinical follow-up. More images and literature references have been included in the atlas (AU)
Subject(s)
Humans , Female , Adult , Mammography/instrumentation , Mammography/methods , Radiology/methods , Calcification, Physiologic/genetics , Skin Diseases/genetics , Skin Diseases/metabolism , Lymph Nodes/abnormalities , Breast Cyst/genetics , Mammography/standards , Mammography , Radiology/classification , Calcification, Physiologic/physiology , Skin Diseases/complications , Skin Diseases/diagnosis , Lymph Nodes/metabolism , Breast Cyst/surgeryABSTRACT
OBJECTIVE: To study the prevalence of breast cysts in several age groups of the general female population and their association with the MspAI polymorphism of the gene CYP17. RESULTS: In 204 ultrasound tests, cysts were present in 22% of the studied population. The epidemiological-clinical profile of these women was Caucasian, aged 41-50 years, regular menstrual cycles, multiparous and complaining of mastalgia. The genetic distribution of polymorphisms of the gene displayed Hardy-Weinberg equilibrium and the wild homozygous phenotype was observed in 36.4% of the case group and in 37.6% of the control groups; the heterozygous phenotype was observed in 50% of the study group and 46.3% of control group and a mutated homozygous phenotype was seen in 13.6% of the study group and 16.1% of the controls. There was no statistically significant difference between the groups (p = 0.92). CONCLUSION: The prevalence and most of the epidemiological profile of breast cysts were in agreement with the literature. There was no statistically significant difference among the genotypic groups (wild homozygous, heterozygous and mutated homozygous), despite a slightly increased frequency of the mutated genotype in the control group. This difference indicates a trend of the MspAI polymorphism of the gene CYP17 to act as a protective factor against the development of breast cysts.
Subject(s)
Breast Cyst/genetics , Deoxyribonuclease HpaII/metabolism , Polymorphism, Restriction Fragment Length , Steroid 17-alpha-Hydroxylase/genetics , Adolescent , Adult , Aged , Breast Cyst/diagnostic imaging , Breast Cyst/epidemiology , Breast Cyst/ethnology , Case-Control Studies , Female , Gene Frequency , Genetic Predisposition to Disease , Humans , Middle Aged , Polymorphism, Restriction Fragment Length/genetics , Prevalence , Steroid 17-alpha-Hydroxylase/metabolism , Ultrasonography , White People/genetics , Young AdultABSTRACT
INTRODUCTION: E-cadherin (E-cad; cadherin 1) and N-cadherin (N-cad; cadherin 2) are the most prominent members of the cadherin family of cell adhesion molecules. Although they share many structural and functional features, they are expressed in an almost mutually exclusive manner in vivo. METHODS: To explore functional differences between the two cadherins in vivo, we recently generated a knock-in line in which N-cad is expressed from the E-cad locus. In combination with a conditional gene inactivation approach, we expressed N-cad in the absence of E-cad (referred to as Ncadk.i.) in alveolar epithelial cells of the mammary gland starting in late pregnancy. RESULTS: We found that the sole presence of N-cad induces constitutively active fibroblast growth factor (Fgf) signaling and a precocious involution resulting in massive apoptosis of alveolar cells. To block apoptosis, we conditionally deleted one allele of p53 in Ncadk.i. mice and observed a temporal rescue of alveolar morphology and function. However, an accumulation of fibrotic tissue and cysts with increasing age and lactation cycles was observed. This phenotype closely resembled fibrocystic mastopathy (FM), a common disorder in humans, which is thought to precede breast cancer. Concordantly, 55% of Ncadk.i. mice harboring a heterozygous p53 deletion developed malignant and invasive tumors. CONCLUSIONS: Our results demonstrate a possible role for N-cad in the formation of fibrosis and cysts in the mammary gland. Moreover, we show that these lesions precede the development of malignant tumors. Thus, we provide a new mouse model to investigate the molecular mechanisms of fibrocystic mastopathy and the transition from benign to malignant tumors.
Subject(s)
Breast Cyst/genetics , Cadherins/genetics , Mammary Glands, Animal/pathology , Age Factors , Animals , Apoptosis/genetics , Breast Cyst/pathology , Cadherins/metabolism , Cell Movement/genetics , Epithelial Cells/metabolism , Epithelial Cells/pathology , Epithelial-Mesenchymal Transition/genetics , Female , Fibroblast Growth Factors/metabolism , Fibrocystic Breast Disease/genetics , Fibrocystic Breast Disease/pathology , Fibrosis/genetics , Gene Silencing , Genes, p53 , Lactation/genetics , Mammary Glands, Animal/cytology , Mammary Glands, Animal/metabolism , Mammary Neoplasms, Animal/genetics , Mammary Neoplasms, Animal/pathology , Mice , Mice, Transgenic , PregnancyABSTRACT
BACKGROUND: Human arrest defective 1 protein (ARD1), as a N-terminal acetyltransferase, has been reported to play a crucial role in tumorigenesis, but the results are somewhat controversial. To explore the clinical and pathological significance of ARD1 in breast tumorigenesis, we analyzed ARD1 status in multiple types of breast disease. METHODS: The expression of ARD1 protein was assessed by immunohistochemistry in 356 cases including 82 invasive ductal carcinomas (IDC), 159 fibroadenomas, 66 hyperplasia of mammary glands, 19 inflammatory breast disease, 30 breast cysts, and in 29 postoperative treatment patients. We assessed the relationship of ARD1 protein with clinical and pathological characteristics using χ2 test. RESULTS: ARD1 protein was observed at 61.0% (50/82), 54.7% (87/159), 37.9% (25/66), 36.8% (7/19) in IDC, fibroadenoma, hyperplasia, and inflammation, respectively, and less than 30.0% for breast cyst. Thus, high ARD1 expression correlated with breast cancer (relative risk = 1.32, P < 0.005). Moreover, the level of ARD1 protein in carcinoma patients was distinctly related to lymph node metastasis and ER status, with 94.0% (47/50) as copmpared to 6.0% (3/50) in metastatic and non-metastatic (P < 0.001), and 84.0% (42/50) and 16.0% (8/50) for ER + and ER - (P < 0.01), respectively. In addition, the level of ARD1 appeared to have potential for evaluation of prognosis in breast cancer patients after postoperative therapy. CONCLUSIONS: These results suggest that ARD1 expression may be as a potential target for exploring the mechanism of breast cancer metastasic to lymph nodes and hormone-responsive regulation.
Subject(s)
Acetyltransferases/genetics , Breast Neoplasms/genetics , Breast Neoplasms/pathology , Acetyltransferases/biosynthesis , Acetyltransferases/metabolism , Adult , Breast Cyst/genetics , Breast Cyst/metabolism , Breast Cyst/pathology , Breast Neoplasms/metabolism , Breast Neoplasms/secondary , Carcinoma, Ductal, Breast/genetics , Carcinoma, Ductal, Breast/metabolism , Carcinoma, Ductal, Breast/pathology , Female , Fibroadenoma/genetics , Fibroadenoma/metabolism , Fibroadenoma/pathology , Humans , Hyperplasia/genetics , Hyperplasia/metabolism , Hyperplasia/pathology , Immunohistochemistry , Inflammation/genetics , Inflammation/metabolism , Inflammation/pathology , Lymphatic Metastasis , Middle Aged , N-Terminal Acetyltransferase A , N-Terminal Acetyltransferase E , Phenotype , Postoperative Period , Prognosis , Up-RegulationABSTRACT
Apocrine change occurs in a spectrum of benign lesions in the female breast and is also demonstrated in a subgroup of in situ and invasive carcinomas. Recent research has focused on the molecular phenotype of both benign and malignant apocrine lesions. This review will briefly summarize the morphological characteristics and risk associations of the spectrum of apocrine proliferations, but will focus on the updated molecular studies of both in situ and invasive apocrine carcinomas.