RESUMEN
An estimated 10% of breast cancer cases exhibit a higher familial incidence, and functional mutations in BRCA (breast cancer-gene) 1 or 2 are responsible for the development of malignant tumors in approximately half of these cases. Women with a germline mutation in either of the two genes have a lifetime risk of up to 85% to develop breast cancer, and of up to 60% risk to develop ovarian cancer. This clinical practice guideline defines the individual and familial tumor constellations that represent an indication for BRCA germline testing. It also describes the therapeutic options (early detection programme vs prophylactic surgery) that arise from the result of a BRCA mutational analysis. This guideline further includes recommendations regarding the use of multigene panels and therapeutic aspects that arise from the selective use of poly ADP ribose polymerase (PARP) inhibitors in patients with known BRCA1 or 2 mutations. It replaces the previous version of the "Clinical Practice Guideline for the Prevention and Early Detection of Breast- and Ovarian Cancer in women from HBOC (hereditary breast and ovarian cancer) families" which was published in 2012.
Asunto(s)
Antineoplásicos/administración & dosificación , Antineoplásicos/normas , Detección Precoz del Cáncer/normas , Síndrome de Cáncer de Mama y Ovario Hereditario/diagnóstico , Síndrome de Cáncer de Mama y Ovario Hereditario/prevención & control , Oncología Médica/normas , Austria , Femenino , HumanosRESUMEN
PURPOSE: To determine the accuracy of a probably benign assessment of non-palpable breast lesions (BI-RADS category 3) at mammography and/or ultrasound with immediate histological work-up. MATERIALS AND METHODS: Stereotactic or ultrasound guided core needle breast biopsy (NBB) was performed to evaluate 288 lesions, which were prospectively assessed as BI-RADS category 3. Imaging findings included 195 masses, 73 calcification cases, 16 focal asymmetries, and four architectural distortion cases. After NBB, patients underwent either open surgical biopsy (OSB) (n=204) or mammographic follow-up (n=84) for at least 24 months. Histological results of NBB were compared with those of OSB. RESULTS: Three of the 288 lesions (1.0%) proved to be malignant at histological work-up, two of them were ductal carcinoma in situ (DCIS) and one of them was an invasive carcinoma. NBB revealed invasive carcinoma in 1/288 (0.35%) and atypical ductal hyperplasia (ADH) in 13/288 (4.5%) lesions. OSB revealed DCIS in 2/204 (1%) and invasive carcinoma in 1/204 (0.5%) lesions. The two DCIS were underestimated as ADH by NBB. The remaining 285 (99%) lesions proved to be benign at OSB or remained stable during follow-up. CONCLUSION: Confirmed by tissue diagnosis, the low likelihood of malignancy of prospectively assessed probably benign lesions is below the 2% threshold established for BI-RADS category 3. Imaging follow-up is a safe and effective alternative to immediate histological work-up for such lesions.
Asunto(s)
Biopsia con Aguja/estadística & datos numéricos , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/patología , Mamografía/estadística & datos numéricos , Adulto , Anciano , Anciano de 80 o más Años , Austria/epidemiología , Neoplasias de la Mama/epidemiología , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Palpación/estadística & datos numéricos , Prevalencia , Pronóstico , Reproducibilidad de los Resultados , Factores de Riesgo , Sensibilidad y Especificidad , Adulto JovenRESUMEN
Women with an elevated risk for breast cancer require intensified screening beginning at an early age. Such high risk screening differs considerably from screening in the general population. After an expert has evaluated the exact risk a breast MRI examination should be offered at least once a year and beginning latest at the age of 30 depending on the patients risk category. Complementary mammograms should not be performed before the age of 35. An additional ultrasound examination is no longer recommended. To ensure a high sensitivity and specificity high risk screening should be performed only at a nationally or regionally approved and audited service. Adequate knowledge about the phenotypical characteristics of familial breast cancer is essential. Besides the common malignant phenotypes, benign morphologies (round or oval shape and smooth margins) as well as a low prevalence of calcifications have been described. Using MRI benign contrast media kinetics as well as non-solid lesions with focal, regional and segmental enhancement can often be visualized.
Asunto(s)
Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Imagen por Resonancia Magnética , Mamografía , Tamizaje Masivo , Ultrasonografía Mamaria , Adulto , Austria , Proteína BRCA1/genética , Proteína BRCA2/genética , Comparación Transcultural , Femenino , Predisposición Genética a la Enfermedad/genética , Alemania , Humanos , Fenotipo , Riesgo , Sensibilidad y EspecificidadRESUMEN
In Europe one out of every nine women suffers from breast cancer during her lifetime. Since the introduction of mammography screening programs more breast cancers are being diagnosed when they are still small and early stage cancers with a favourable prognosis. The introduction of digital mammography systems has led to a continuous reduction of breast cancer mortality especially in specific patient subgroups. Furthermore, the digital mammography platform enables the development of new, innovative breast imaging methods to increase sensitivity and decrease breast cancer mortality. This digital mammography platform includes digital breast tomosynthesis, digital contrast medium mammography and digital contrast medium breast tomosynthesis as well as fused data sets from digital mammography with ultrasound or MRI. The following article summarizes these new applications, describes the strengths of the digital platform and illustrates the potential advantages of an improved breast cancer diagnosis by digital mammography.
Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Carcinoma Ductal de Mama/diagnóstico por imagen , Carcinoma Intraductal no Infiltrante/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador/instrumentación , Imagenología Tridimensional/instrumentación , Mamografía/instrumentación , Tamizaje Masivo/instrumentación , Intensificación de Imagen Radiográfica/instrumentación , Absorciometría de Fotón/instrumentación , Adulto , Anciano , Neoplasias de la Mama/mortalidad , Carcinoma Ductal de Mama/mortalidad , Carcinoma Intraductal no Infiltrante/mortalidad , Medios de Contraste/administración & dosificación , Diagnóstico Precoz , Diseño de Equipo , Femenino , Humanos , Aumento de la Imagen/instrumentación , Imagen por Resonancia Magnética/instrumentación , Persona de Mediana Edad , Sensibilidad y Especificidad , Técnica de Sustracción/instrumentación , Tasa de Supervivencia , Tomografía Computarizada por Rayos X/instrumentaciónRESUMEN
PURPOSE: To compare the accuracy of wire and carbon localization in stereotactically localized open breast biopsy. PATIENTS AND METHODS: From June 1995 to December 1997, a total of 725 stereotactic wire or carbon dye localizations were performed in 698 female patients. Success of localization was evaluated either by a malignant histopathological diagnosis or by mammographic follow-up. A lesion was considered to be missed if it could be still seen on follow-up mammography. RESULTS: In 703 of 725 cases, the success of localization could be evaluated with 427 (61 %) lesions localized with a wire and 276 (39 %) with carbon. Seven (1 %) out of 703 lesions were missed at open biopsy. Three lesions of these had been localized with wire and three lesions with carbon. The miss rates were 0.9 % and 1.1 %, respectively (p = 1.0). CONCLUSION: Both wire and carbon localization are reliable and accurate in the localization of non-palpable breast lesions. Concerning efficiency and costs, carbon dye seems to offer a promising compromise.
Asunto(s)
Biopsia/instrumentación , Neoplasias de la Mama/diagnóstico por imagen , Carbono , Mamografía/instrumentación , Punciones/instrumentación , Adulto , Anciano , Anciano de 80 o más Años , Mama/patología , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Diagnóstico Diferencial , Femenino , Enfermedad Fibroquística de la Mama/diagnóstico por imagen , Enfermedad Fibroquística de la Mama/patología , Enfermedad Fibroquística de la Mama/cirugía , Humanos , Persona de Mediana Edad , Reproducibilidad de los ResultadosRESUMEN
OBJECTIVES: To compare quality of harvested tissue, false-negative rate, and complication rate of large-core needle breast biopsy (LCNBB) and directional, vacuum-assisted breast biopsy (DVABB) in non-palpable breast lesions. PATIENTS AND METHODS: From 1994 to 1999, in 580 non-palpable breast lesions a stereotactically-guided breast biopsy was performed. 14-G LCNBB was used in 168 lesions (29 %). DVABB was used in 412 lesions (71 %; 11-G DVABB: 134 lesions 32.5 %, 14-G DVABB: 278 lesions 67.5 %). Following biopsy, patients underwent either surgical excision (n = 533; 93.8 %) or mammographical follow-up (n = 36; 6.2 %). Histological results of LCNBB, DVABB, surgical breast biopsy and follow-up results were compared and scored for their tissue quality on a three-point scale (1 = disagreement between biopsy and surgery; 2 = partial agreement; 3 = complete agreement). In addition, we determined the false negative and complication rate for both systems. RESULTS: Histological examination after surgery and follow-up proved 262 (45.2 %) to be benign, 15 (2.6 %) to be high-risk lesions and 303 (52.5 %) to be malignant. In the tissue quality there was no significant difference between 14-G LCNBB (score = 2.94), 11-G DVABB (score = 2.92) and 14-G DVABB (score = 2.91) (p > 0.05). Particularly, in calcifications 11-G DVABB scored better (score = 2.92) than 14-G DVABB (score = 2.88) (p > 0.05). 14-G LCNBB had a lower false negative rate (1.8 %) than 11-G DVABB (3 %) and 14-G DVABB (3.2 %) (p > 0.05). There was no difference in the complication rate between the different needle types. CONCLUSIONS: Our results indicate that both LCNBB and DVABB are reliable and safe techniques in the diagnosis of non-palpable breast lesions. However, the use of 14-G LCNBB seems to be advantageous in masses, the use of 11-G DVABB seems to be advantageous in asymmetric densities and calcifications.