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Neoplasias de la Mama , Carcinoma Intraductal no Infiltrante , Mastectomía Segmentaria , Humanos , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/radioterapia , Neoplasias de la Mama/patología , Femenino , Mastectomía Segmentaria/métodos , Carcinoma Intraductal no Infiltrante/cirugía , Carcinoma Intraductal no Infiltrante/patología , Carcinoma Intraductal no Infiltrante/radioterapia , Pronóstico , Toma de Decisiones , Biomarcadores de Tumor/genética , Toma de Decisiones Clínicas , Radioterapia AdyuvanteRESUMEN
Early detection of breast cancer from regular screening substantially reduces breast cancer mortality and morbidity. Multiple different imaging modalities may be used to screen for breast cancer. Screening recommendations differ based on an individual's risk of developing breast cancer. Numerous factors contribute to breast cancer risk, which is frequently divided into three major categories: average, intermediate, and high risk. For patients assigned female at birth with native breast tissue, mammography and digital breast tomosynthesis are the recommended method for breast cancer screening in all risk categories. In addition to the recommendation of mammography and digital breast tomosynthesis in high-risk patients, screening with breast MRI is recommended. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.
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Humanos , Femenino , Neoplasias de la Mama/diagnóstico por imagen , Detección Precoz del Cáncer , MamografíaRESUMEN
Early detection of breast cancer from regular screening substantially reduces breast cancer mortality and morbidity. Multiple different imaging modalities may be used to screen for breast cancer. Screening recommendations differ based on an individual's risk of developing breast cancer. Numerous factors contribute to breast cancer risk, which is frequently divided into three major categories: average, intermediate, and high risk. For patients assigned female at birth with native breast tissue, mammography and digital breast tomosynthesis are the recommended method for breast cancer screening in all risk categories. In addition to the recommendation of mammography and digital breast tomosynthesis in high-risk patients, screening with breast MRI is recommended. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.
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Neoplasias de la Mama , Detección Precoz del Cáncer , Medicina Basada en la Evidencia , Sociedades Médicas , Humanos , Neoplasias de la Mama/diagnóstico por imagen , Femenino , Detección Precoz del Cáncer/métodos , Estados Unidos , Mamografía/normas , Mamografía/métodos , Medición de Riesgo , Tamizaje Masivo/métodosRESUMEN
BACKGROUND: Breast-conserving surgery (BCS) followed by adjuvant radiotherapy (RT) is a standard treatment for ductal carcinoma in situ (DCIS). A low-risk patient subset that does not benefit from RT has not yet been clearly identified. The DCISionRT test provides a clinically validated decision score (DS), which is prognostic of 10-year in-breast recurrence rates (invasive and non-invasive) and is also predictive of RT benefit. This analysis presents final outcomes from the PREDICT prospective registry trial aiming to determine how often the DCISionRT test changes radiation treatment recommendations. METHODS: Overall, 2496 patients were enrolled from February 2018 to January 2022 at 63 academic and community practice sites and received DCISionRT as part of their care plan. Treating physicians reported their treatment recommendations pre- and post-test as well as the patient's preference. The primary endpoint was to identify the percentage of patients where testing led to a change in RT recommendation. The impact of the test on RT treatment recommendation was physician specialty, treatment settings, individual clinical/pathological features and RTOG 9804 like criteria. Multivariate logisitc regression analysis was used to estimate the odds ratio (ORs) for factors associated with the post-test RT recommendations. RESULTS: RT recommendation changed 38% of women, resulting in a 20% decrease in the overall recommendation of RT (p < 0.001). Of those women initially recommended no RT (n = 583), 31% were recommended RT post-test. The recommendation for RT post-test increased with increasing DS, from 29% to 66% to 91% for DS <2, DS 2-4, and DS >4, respectively. On multivariable analysis, DS had the strongest influence on final RT recommendation (odds ratio 22.2, 95% confidence interval 16.3-30.7), which was eightfold greater than clinicopathologic features. Furthermore, there was an overall change in the recommendation to receive RT in 42% of those patients meeting RTOG 9804-like low-risk criteria. CONCLUSIONS: The test results provided information that changes treatment recommendations both for and against RT use in large population of women with DCIS treated in a variety of clinical settings. Overall, clinicians changed their recommendations to include or omit RT for 38% of women based on the test results. Based on published clinical validations and the results from current study, DCISionRT may aid in preventing the over- and undertreatment of clinicopathological 'low-risk' and 'high-risk' DCIS patients. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT03448926 ( https://clinicaltrials.gov/study/NCT03448926 ).
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Neoplasias de la Mama , Carcinoma Intraductal no Infiltrante , Mastectomía Segmentaria , Humanos , Femenino , Neoplasias de la Mama/radioterapia , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/patología , Carcinoma Intraductal no Infiltrante/radioterapia , Carcinoma Intraductal no Infiltrante/cirugía , Carcinoma Intraductal no Infiltrante/patología , Persona de Mediana Edad , Radioterapia Adyuvante , Pronóstico , Estudios Prospectivos , Anciano , Estudios de Seguimiento , Recurrencia Local de Neoplasia/patología , Toma de Decisiones Clínicas , Adulto , Toma de Decisiones , Biomarcadores de TumorRESUMEN
PURPOSE: To investigate the influence of the sodium (Na) reference tube location in a birdcage coil on the quantification of Na in the calf muscle. Two correction methods were also evaluated. METHOD: Eight (4 × 20 mM, 4 × 30 mM Na) reference tubes were placed along the inner surface of the coil and one (30 mM Na) tube more centrally near the tibia. In two volunteers, four repeated UTE scans were acquired. In six calf muscles, the Na concentration was calculated based on each reference tube. Flip angle mapping of a homogenous Na phantom was used for correcting intensity values. Alternatively, a normalized intensity map was used for correcting the in vivo signal intensities. Results were given as range or SD of Na concentration measurements over the reference tubes. RESULTS: For calf Na measurements, there was limited space for positioning reference tubes away from coil B1 inhomogeneity. In both volunteers, the Na quantification depended greatly on the reference tube used with a range of up to 10 mM. The central tube location gave a Na quantification close to the mean of the other tubes. The flip angle and normalized signal intensity phantom-based correction methods decreased the quantification variation from 14.9% to 5.0% and 10.4% to 2.7%, respectively. Both correction methods had little influence (< 2.3%) on quantification based on the central tube. CONCLUSION: Despite use of a birdcage coil, location of the reference tube had a great impact on Na quantification in the calf muscles. Although both correction methods did reduce this variation, placing the reference tube more centrally was found to give the most reliable results.
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Imagen por Resonancia Magnética , Sodio , Humanos , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/diagnóstico por imagen , Fantasmas de Imagen , CintigrafíaRESUMEN
OBJECTIVE: Reduced FOV-diffusion-weighted imaging (rFOV-DWI) allows for acquisition of a tissue region without back-folding, and may have better fat suppression than conventional DWI imaging (c-DWI). The aim was to compare the ADCs obtained with c-DWI bilateral-breast imaging with single-breast rFOV-DWI. MATERIALS AND METHODS: Breasts of 38 patients were scanned at 3 T. The mean ADC values obtained for 38 lesions, and fibro-glandular (N = 35) and adipose (N = 38) tissue ROIs were compared between c-DWI and higher-resolution rFOV-DWI (Wilcoxon rank test). Also, the ADCs were compared between the two acquisitions for an oil-only phantom and a combined water/oil phantom. Furthermore, ghost artifacts were assessed. RESULTS: No significant difference in mean ADC was found between the acquisitions for lesions (c-DWI: 1.08 × 10-3 mm2/s, rFOV-DWI: 1.13 × 10-3 mm2/s) and fibro-glandular tissue. For adipose tissue, the ADC using rFOV-DWI (0.31 × 10-3 mm2/s) was significantly higher than c-DWI (0.16 × 10-3 mm2/s). For the oil-only phantom, no difference in ADC was found. However, for the water/oil phantom, the ADC of oil was significantly higher with rFOV-DWI compared to c-DWI. DISCUSSION: Although ghost artifacts were observed for both acquisitions, they appeared to have a greater impact for rFOV-DWI. However, no differences in mean lesions' ADC values were found, and therefore this study suggests that rFOV can be used diagnostically for single-breast DWI imaging.
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Mama , Imagen de Difusión por Resonancia Magnética , Humanos , Mama/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética/métodos , Fantasmas de Imagen , Artefactos , Imagen Eco-Planar/métodos , Reproducibilidad de los ResultadosRESUMEN
BACKGROUND: As more patients with early-stage breast cancer receive neoadjuvant endocrine therapy (NET), there is a need for reliable biomarkers that can identify patients with HR+ HER2- tumors who are likely to benefit from NET. NBRST (NCT01479101) compared the prognostic value of the 70-gene risk classification and 80-gene molecular subtyping signatures with conventional pathological classification methods in response to neoadjuvant therapy. We evaluated the association of these signatures with clinical response and 5-year outcome of patients treated with NET. METHODS: 1091 patients with early-stage breast cancer scheduled to receive neoadjuvant therapy were prospectively enrolled into NBRST, and a sub-analysis of 67 patients treated with NET was performed. Patients received standard of care genomic testing using the 70-gene and 80-gene signatures and were treated with NET, per physician's discretion. The primary endpoint was pathologic partial response (pPR) and secondary endpoints were distant metastasis-free survival (DMFS) and overall survival (OS). Clinical benefit was defined as having a pPR or stable disease (SD) with NET. RESULTS: Overall, 94.4% of patients with genomically (g) Luminal A-Type (50.0% pPR and 44.4% SD) and 95.0% with Luminal B-Type tumors (55.0% pPR and 40.0% SD) exhibited clinical benefit. At 5 years, patients with gLuminal B tumors had significantly worse DMFS (75.6%, 95% CI 50.8-89.1) than patients with gLuminal A (91.1%; 95% CI 74.8-97.1; p = 0.047), with a similar trend for OS, albeit not significant (81.0%, 95% CI 56.9-92.4 and 91.1%, 95% CI 74.8-97.1, respectively; p = 0.13). CONCLUSIONS: Genomic assays offer a broader understanding of the underlying tumor biology, which adds precision to pathology as a preoperative risk classifier. Patients with 70-gene signature Low Risk, gLuminal A tumors treated with endocrine therapy alone have excellent 5-year outcomes. Most patients with genomically-defined Luminal A- and B-Type tumors respond well to NET, suggesting these patients may be safely treated with NET, while those with gLuminal B tumors will also require post-operative chemotherapy or CDK4/6 inhibitors to improve long-term outcomes. Overall, these findings demonstrate that genomic classification, defined by the combined 70- and 80-gene signatures, is associated with tumor response and prognostic of long-term outcomes.
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Neoplasias de la Mama , Terapia Neoadyuvante , Femenino , Humanos , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/genética , Genómica , Pronóstico , Ensayos Clínicos como AsuntoRESUMEN
Importance: National Comprehensive Cancer Network guidelines currently recommend germline testing for high-risk genes in selected patients with breast cancer. The clinical utility of recommending testing all patients with breast cancer with multigene panels is currently under consideration. Objective: To examine the implications of universal testing of patients with breast cancer with respect to clinical decision-making. Design, Setting, and Participants: Patients from a previously reported cohort were assessed as in-criteria or out-of-criteria according to the 2017 guidelines and underwent testing with a multigene germline panel between 2017 to 2018. Patients were women and men aged 18 to 90 years, with a new and/or previous diagnosis of breast cancer who had not undergone either single or multigene testing. Clinicians from 20 community and academic sites documented patient clinical information and changes to clinical recommendations made according to test findings. Association between prevalence of pathogenic or likely pathogenic germline variants and previously unreported clinical features, including scores generated by the BRCAPRO statistical model, was determined. Data were analyzed from April 2020 to May 2022. Exposure: New and/or previous diagnosis of breast cancer. Main Outcomes and Measures: Disease management recommendations that were changed as a result of genetic testing results are reported. Results: Clinicians were asked to assess changes to clinical management as a result of germline genetic testing for 952 patients. Informative clinician-reported recommendations were provided for 939 (467 in-criteria and 472 out-of-criteria) of the patients with breast cancer (936 [99.7%] female; 702 [74.8%] White; mean [SD] age at initial diagnosis, 57.6 [11.5] years). One or more changes were reported for 31 of 37 (83.8%) in-criteria patients and 23 of 34 (67.6%) out-of-criteria patients with a pathogenic or likely pathogenic variant. Recommendations were changed as a result of testing results for 14 of 22 (63.6%) out-of-criteria patients who had a variant in a breast cancer predisposition gene. Clinicians considered testing beneficial for two-thirds of patients with pathogenic or likely pathogenic variants and for one-third of patients with either negative results or variants of uncertain significance. There was no difference in variant rate between patients meeting the BRCAPRO threshold (≥10%) and those who did not (P = .86, Fisher exact test). No changes to clinical recommendations were made for most patients with negative results (345 of 349 patients [98.9%]) or variants of uncertain significance (492 of 509 patients [96.7%]). Conclusions and Relevance: In this cohort study, germline genetic testing was used by clinicians to direct treatment for most out-of-criteria patients with breast cancer with pathogenic or likely pathogenic germline variants, including those with moderate-risk variants. Universal germline testing informs clinical decision-making and provides access to targeted treatments and clinical trials for all patients with breast cancer.
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Neoplasias de la Mama , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Estudios de Cohortes , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Células Germinativas/patología , Humanos , MasculinoRESUMEN
PURPOSE: The prospective Neoadjuvant Breast Registry Symphony Trial compared the 80-gene molecular subtyping signature with clinical assessment by immunohistochemistry and/or fluorescence in situ hybridization in predicting pathologic complete response (pCR) and 5-year outcomes in patients with early-stage breast cancer. METHODS: Standard-of-care neoadjuvant chemotherapy combined with trastuzumab or trastuzumab plus pertuzumab was given to patients with human epidermal growth factor receptor 2 (HER2)-positive tumors (n = 295). pCR was the primary end point, with secondary end points of distant metastasis-free survival and overall survival at 5 years. RESULTS: Among clinically defined HER2-positive (cHER2) tumors, the 80-gene assay identified 29.5% (87 of 295) as Luminal-Type (cHER2/gLuminal), 14.9% (44 of 295) as Basal-Type (cHER2/gBasal), and 55.6% (164 of 295) as HER2-Type (cHER2/genomically classified as HER2 [gHER2]). Patients with cHER2/gHER2 tumors had a higher pCR rate (61.6%) compared with non-gHER2 tumors (26.7%; P < .001). Dual targeting for cHER2/gHER2 tumors yielded a higher pCR rate (75%) compared with those treated with single HER2-targeted therapy (54%; P = .006). For cHER2/gBasal tumors, the 42.9% pCR rate observed with dual targeting was not different from that with trastuzumab alone (46.4%; P = .830). Among those with cHER2/gBasal tumors, 5-year distant metastasis-free survival (68.6%; 95% CI, 49.1 to 81.9) was significantly worse than in patients with cHER2/gLuminal tumors (88.9%; 95% CI, 78.0 to 94.6) and cHER2/gHER2 tumors (87.4%; 95% CI, 80.2 to 92.2; P = .010), with similar corresponding overall survival differences. CONCLUSION: The 80-gene assay identified meaningful genomic diversity in patients with cHER2 disease. Patients with cHER2/gHER2 tumors, who benefitted most from dual HER2-targeted therapy, accounted for approximately half of the cHER2 cohort. Genomically Luminal tumors had low pCR rates but good 5-year outcomes. cHER2/gBasal tumors derived no benefit from dual therapy and had significantly worse 5-year prognosis; these patients merit special consideration in future trials.
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Antineoplásicos , Terapia Neoadyuvante , Antineoplásicos/uso terapéutico , Genómica , Humanos , Hibridación Fluorescente in Situ , Estudios Prospectivos , Receptor ErbB-2 , Trastuzumab/farmacologíaRESUMEN
BACKGROUND: The Neoadjuvant Breast Symphony Trial (NBRST) demonstrated the 70-gene risk of distant recurrence signature, MammaPrint, and the 80-gene molecular subtyping signature, BluePrint, precisely determined preoperative pathological complete response (pCR) in breast cancer patients. We report 5-year follow-up results in addition to an exploratory analysis by age and menopausal status. METHODS: The observational, prospective NBRST (NCT01479101) included 954 early-stage breast cancer patients aged 18-90 years who received neoadjuvant chemotherapy and had clinical and genomic data available. Chemosensitivity and 5-year distant metastasis-free survival (DMFS) and overall survival (OS) were assessed. In a post hoc subanalysis, results were stratified by age (≤ 50 vs. > 50 years) and menopausal status in patients with hormone receptor-positive/human epidermal growth factor receptor 2-negative (HR+/HER2-) tumors. RESULTS: MammaPrint and BluePrint further classified 23% of tumors to a different subtype compared with immunohistochemistry, with more precise correspondence to pCR rates. Five-year DMFS and OS were highest in MammaPrint Low Risk, Luminal A-type and HER2-type tumors, and lowest in MammaPrint High Risk, Luminal B-type and Basal-type tumors. There was no significant difference in chemosensitivity between younger and older patients with Low-Risk (2.2% vs. 3.8%; p = 0.64) or High-Risk tumors (14.5% vs. 11.5%; p = 0.42), or within each BluePrint subtype; this was similar when stratifying by menopausal status. The 5-year outcomes were comparable by age or menopausal status for each molecular subtype. CONCLUSION: Intrinsic preoperative chemosensitivity and long-term outcomes were precisely determined by BluePrint and MammaPrint regardless of patient age, supporting the utility of these assays to inform treatment and surgical decisions in early-stage breast cancer.
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PURPOSE: The 80-gene molecular subtyping signature (80-GS) reclassifies a proportion of immunohistochemistry (IHC)-defined luminal breast cancers (estrogen receptor-positive [ER+], human epidermal growth factor receptor 2-negative [HER2-]) as Basal-Type. We report the association of 80-GS reclassification with neoadjuvant treatment response and 5-year outcome in patients with breast cancer. METHODS: Neoadjuvant Breast Registry Symphony Trial (NBRST; NCT01479101) is an observational, prospective study that included 1,069 patients with early-stage breast cancer age 18-90 years who received neoadjuvant therapy. Pathologic complete response (pCR) and 5-year distant metastasis-free survival (DMFS) and overall survival (OS) were assessed in 477 patients with IHC-defined ER+, HER2- tumors and in a reference group of 229 patients with IHC-defined triple-negative breast cancer (TNBC). RESULTS: 80-GS reclassified 15% of ER+, HER2- tumors (n = 73) as Basal-Type (ER+/Basal), which had similar pCR compared with TNBC/Basal tumors (34% v 38%; P = .52), and significantly higher pCR than ER+/Luminal A (2%; P < .001) and ER+/Luminal B (6%; P < .001) tumors. The 5-year DMFS (%, [95% CI]) was significantly lower for patients with ER+/Basal tumors (66% [52.6 to 77.3]), compared with those with ER+/Luminal A tumors (92.3% [85.2 to 96.1]) and ER+/Luminal B tumors (73.5% [44.5 to 79.3]). Importantly, patients with ER+/Basal or TNBC/Basal tumors that had a pCR exhibited significantly improved DMFS and OS compared with those with residual disease. By contrast, patients with ER+/Luminal B tumors had comparable 5-year DMFS and OS whether or not they achieved pCR. CONCLUSION: Significant differences in chemosensitivity and 5-year outcome suggest patients with ER+/Basal molecular subtype may benefit from neoadjuvant regimens optimized for patients with TNBC/Basal tumors compared with patients with ER+/Luminal subtype. These data highlight the importance of identifying this subset of patients to improve treatment planning and long-term survival.
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Terapia Neoadyuvante , Neoplasias de la Mama Triple Negativas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Estudios Prospectivos , Receptor ErbB-2 , Receptores de Estrógenos/genética , Receptores de Progesterona/análisis , Neoplasias de la Mama Triple Negativas/tratamiento farmacológico , Adulto JovenRESUMEN
PURPOSE: The linear change of the water proton resonance frequency shift (PRFS) with temperature is used to monitor temperature change based on the temporal difference of image phase. Here, the effect of motion-induced susceptibility artifacts on the phase difference was studied in the context of mild radio frequency hyperthermia in the pelvis. METHODS: First, the respiratory-induced field variations were disentangled from digestive gas motion in the pelvis. The projection onto dipole fields (PDF) as well as the Laplacian boundary value (LBV) algorithm were applied on the phase difference data to eliminate motion-induced susceptibility artifacts. Both background field removal (BFR) algorithms were studied using simulations of susceptibility artifacts, a phantom heating experiment, and volunteer and patient heating data. RESULTS: Respiratory-induced field variations were negligible in the presence of the filled water bolus. Even though LBV and PDF showed comparable results for most data, LBV seemed more robust in our data sets. Some data sets suggested that PDF tends to overestimate the background field, thus removing phase attributed to temperature. The BFR methods even corrected for susceptibility variations induced by a subvoxel displacement of the phantom. The method yielded successful artifact correction in 2 out of 4 patient treatment data sets during the entire treatment duration of mild RF heating of cervical cancer. The heating pattern corresponded well with temperature probe data. CONCLUSION: The application of background field removal methods in PRFS-based MR thermometry has great potential in various heating applications and body regions to reduce motion-induced susceptibility artifacts that originate outside the region of interest, while conserving temperature-induced PRFS. In addition, BFR automatically removes up to a first-order spatial B0 drift.
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Artefactos , Termometría , Humanos , Imagen por Resonancia Magnética , Pelvis/diagnóstico por imagen , ProtonesRESUMEN
The COVID-19 pandemic presents clinicians a unique set of challenges in managing breast cancer (BC) patients. As hospital resources and staff become more limited during the COVID-19 pandemic, it becomes critically important to define which BC patients require more urgent care and which patients can wait for treatment until the pandemic is over. In this Special Communication, we use expert opinion of representatives from multiple cancer care organizations to categorize BC patients into priority levels (A, B, C) for urgency of care across all specialties. Additionally, we provide treatment recommendations for each of these patient scenarios. Priority A patients have conditions that are immediately life threatening or symptomatic requiring urgent treatment. Priority B patients have conditions that do not require immediate treatment but should start treatment before the pandemic is over. Priority C patients have conditions that can be safely deferred until the pandemic is over. The implementation of these recommendations for patient triage, which are based on the highest level available evidence, must be adapted to current availability of hospital resources and severity of the COVID-19 pandemic in each region of the country. Additionally, the risk of disease progression and worse outcomes for patients need to be weighed against the risk of patient and staff exposure to SARS CoV-2 (virus associated with the COVID-19 pandemic). Physicians should use these recommendations to prioritize care for their BC patients and adapt treatment recommendations to the local context at their hospital.
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Neoplasias de la Mama/clasificación , Neoplasias de la Mama/terapia , Infecciones por Coronavirus/epidemiología , Neumonía Viral/epidemiología , Betacoronavirus/aislamiento & purificación , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/patología , COVID-19 , Infecciones por Coronavirus/virología , Femenino , Recursos en Salud , Humanos , Invasividad Neoplásica , Pandemias , Neumonía Viral/virología , SARS-CoV-2 , Telemedicina , TriajeRESUMEN
As the proportion of women diagnosed with early stage breast cancer increases, the role of imaging for staging and surveillance purposes is considered. National and international guidelines discourage the use of staging imaging for asymptomatic patients newly diagnosed with stage 0 to II breast cancer, even if there is nodal involvement, as unnecessary imaging can delay care and affect outcomes. In asymptomatic patients with a history of stage I breast cancer that received treatment for curative intent, there is no role for imaging to screen for distant recurrences. However, routine surveillance with an annual mammogram is the only imaging test that should be performed to detect an in-breast recurrence or a new primary breast cancer in women with a history of stage I breast cancer. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
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Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/patología , Monitoreo Fisiológico/métodos , Recurrencia Local de Neoplasia/diagnóstico por imagen , Guías de Práctica Clínica como Asunto , Enfermedades Asintomáticas , Neoplasias de la Mama/cirugía , Detección Precoz del Cáncer/métodos , Medicina Basada en la Evidencia , Femenino , Humanos , Mamografía/métodos , Mastectomía/métodos , Invasividad Neoplásica/patología , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Estadificación de Neoplasias , Pronóstico , Control de Calidad , Radiología/normas , Sociedades Médicas/normasRESUMEN
Immunohistochemically ER-positive HER2-negative (ER+HER2-) breast cancers are classified clinically as Luminal-type. We showed previously that molecular subtyping using the 80-gene signature (80-GS) reclassified a subset of ER+HER2- tumors to molecular Basal-type. We report here that molecular reclassification is associated with expression of dominant-negative ER variants and evaluate response to neoadjuvant therapy and outcome in the prospective neoadjuvant NBRST study (NCT01479101). The 80-GS reclassified 91 of 694 (13.1%) immunohistochemically Luminal-type tumors to molecular Basal-type. Importantly, all 91 discordant tumors were classified as high-risk, whereas only 66.9% of ER+/Luminal-type tumors were classified at high-risk for disease recurrence (i.e., Luminal B) (P < 0.001). ER variant mRNA (ER∆3, ER∆7, and ERα-36) analysis performed on 84 ER+/Basal tumors and 48 ER+/Luminal B control tumors revealed that total ER mRNA was significantly lower in ER+/Basal tumors. The relative expression of ER∆7/total ER was significantly higher in ER+/Basal tumors compared to ER+/Luminal B tumors (P < 0.001). ER+/Basal patients had similar pathological complete response (pCR) rates following neoadjuvant chemotherapy as ER-/Basal patients (34.3 vs. 37.6%), and much higher than ER+/Luminal A or B patients (2.3 and 5.8%, respectively). Furthermore, 3-year distant metastasis-free interval (DMFI) for ER+/Basal patients was 65.8%, significantly lower than 96.3 and 88.9% for ER+/Luminal A and B patients, respectively, (log-rank P < 0.001). Significantly lower total ER mRNA and increased relative ER∆7 dominant-negative variant expression provides a rationale why ER+/Basal breast cancers are molecularly ER-negative. Identification of this substantial subset of patients is clinically relevant because of the higher pCR rate to neoadjuvant chemotherapy and correlation with clinical outcome.
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PURPOSE: An estimated 10% of breast and ovarian cancers result from hereditary causes. Current testing guidelines for germ line susceptibility genes in patients with breast carcinoma were developed to identify carriers of BRCA1/ 2 variants and have evolved in the panel-testing era. We evaluated the capability of the National Comprehensive Cancer Network (NCCN) guidelines to identify patients with breast cancer with pathogenic variants in expanded panel testing. METHODS: An institutional review board-approved multicenter prospective registry was initiated with 20 community and academic sites experienced in cancer genetic testing and counseling. Eligibility criteria included patients with a previously or newly diagnosed breast cancer who had not undergone either single- or multigene testing. Consecutive patients 18 to 90 years of age were consented and underwent an 80-gene panel test. Health Insurance Portability and Accountability Act-compliant electronic case report forms collected information on patient demographics, diagnoses, phenotypes, and test results. RESULTS: More than 1,000 patients were enrolled, and data records for 959 patients were analyzed; 49.95% met NCCN criteria, and 50.05% did not. Overall, 8.65% of patients had a pathogenic/likely pathogenic (P/LP) variant. Of patients who met NCCN guidelines with test results, 9.39% had a P/LP variant. Of patients who did not meet guidelines, 7.9% had a P/LP variant. The difference in positive results between these groups was not statistically significant (Fisher's exact test P = .4241). CONCLUSION: Our results indicate that nearly half of patients with breast cancer with a P/LP variant with clinically actionable and/or management guidelines in development are missed by current testing guidelines. We recommend that all patients with a diagnosis of breast cancer undergo expanded panel testing.
Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias de la Mama/genética , Perfilación de la Expresión Génica/normas , Pruebas Genéticas/normas , Mutación , Guías de Práctica Clínica como Asunto/normas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/patología , Femenino , Predisposición Genética a la Enfermedad , Adhesión a Directriz/normas , Herencia , Humanos , Persona de Mediana Edad , Linaje , Fenotipo , Valor Predictivo de las Pruebas , Estudios Prospectivos , Sistema de Registros , Reproducibilidad de los Resultados , Factores de Riesgo , Transcriptoma , Adulto JovenRESUMEN
Breast pain is a common complaint. However, in the absence any accompanying suspicious clinical finding (eg, lump or nipple discharge), the association with malignancy is very low (0%-3.0%). When malignancy-related, breast pain tends to be focal (less than one quadrant) and persistent. Pain that is clinically insignificant (nonfocal [greater than one quadrant], diffuse, or cyclical) requires no imaging beyond what is recommended for screening. In cases of pain that is clinically significant (focal and noncyclical), imaging with mammography, digital breast tomosynthesis (DBT), and ultrasound are appropriate, depending on the patient's age. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
Asunto(s)
Mastodinia/diagnóstico por imagen , Factores de Edad , Neoplasias de la Mama/diagnóstico por imagen , Diagnóstico Diferencial , Medicina Basada en la Evidencia , Femenino , Humanos , Sociedades Médicas , Estados UnidosRESUMEN
Breast imaging during pregnancy and lactation is challenging due to unique physiologic and structural breast changes that increase the difficulty of clinical and radiological evaluation. Pregnancy-associated breast cancer (PABC) is increasing as more women delay child bearing into the fourth decade of life, and imaging of clinical symptoms should not be delayed. PABC may present as a palpable lump, nipple discharge, diffuse breast enlargement, focal pain, or milk rejection. Breast imaging during lactation is very similar to breast imaging in women who are not breast feeding. However, breast imaging during pregnancy is modified to balance both maternal and fetal well-being; and there is a limited role for advanced breast imaging techniques in pregnant women. Mammography is safe during pregnancy and breast cancer screening should be tailored to patient age and breast cancer risk. Diagnostic breast imaging during pregnancy should be obtained to evaluate clinical symptoms and for loco-regional staging of newly diagnosed PABC. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
Asunto(s)
Enfermedades de la Mama/diagnóstico por imagen , Seguridad del Paciente , Adulto , Neoplasias de la Mama/diagnóstico por imagen , Diagnóstico Diferencial , Medicina Basada en la Evidencia , Femenino , Humanos , Lactancia , Embarazo , Sociedades Médicas , Estados UnidosRESUMEN
Although the majority of male breast problems are benign with gynecomastia as the most common etiology, men with breast symptoms and their referring providers are typically concerned about whether or not it is due to breast cancer. If the differentiation between benign disease and breast cancer cannot be made on the basis of clinical findings, or if the clinical presentation is suspicious, imaging is indicated. The panel recommends the following approach to breast imaging in symptomatic men. In men with clinical findings consistent with gynecomastia or pseudogynecomastia, no imaging is routinely recommended. If an indeterminate breast mass is identified, the initial recommended imaging study is ultrasound in men younger than age 25, and mammography or digital breast tomosynthesis in men age 25 and older. If physical examination is suspicious for a male breast cancer, mammography or digital breast tomosynthesis is recommended irrespective of patient age. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.