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Was ist neu? Risikofaktoren Hormonelles Ungleichgewicht, Gynäkomastie, Lifestyle-Faktoren und genetische Veränderungen (insbesondere BRCA2-Mutationen) zählen zu den Hauptrisikofaktoren für das Mammakarzinom beim Mann. Prognose Die Brustkrebserkrankungen von Männern gehen mit einer schlechteren Prognose einher als die der Frauen. Diagnostik Zur Abklärung eines suspekten Befunds in der männlichen Brust sollten nach Anamnese und klinischer Untersuchung eine Mammasonografie und Mammografie durchgeführt werden. Therapie Die Behandlung wird in enger Anlehnung an das Vorgehen bei der Brustkrebserkrankung der Frau durchgeführt. Es steht eine Vielzahl an medikamentösen Therapiemöglichkeiten zur Verfügung. Einige sind jedoch nur als Off-Label-Use anzuwenden, da eine Zulassung beim Mann fehlt. Nachsorge Die Nachsorge erfolgt nach einem standardisierten Nachsorgeschema analog dem weiblichen Mammakarzinom. Bei positiver Familienanamnese für das Mammakarzinom und/oder Ovarialkarzinom erfolgt die Beratung und Testung gemäß den Kriterien des Deutschen Konsortiums Familiärer Brust- und Eierstockkrebs.

Purpose Second opinions in oncology are becoming increasingly important in an era of more complex treatments and a growing demand for information by patients. Therefore, we analyzed their effects and influencing factors like patients’ motives, subjective extent of information and satisfaction with communications. Methods This prospective study evaluated second opinions for patients with breast cancer or gynecological malignancy. The patients received a questionnaire before and two months after, which inquired expectations, reasons, and satisfaction with the second opinion and the attending physicians. Results A total of 164 patients were included and the majority had breast cancer (75.0%). Receiving the second opinion made 89.7% feel better informed, their need for information decreased (from 75.3% to 39.2%, P P = 0.0002). There were various reasons for requesting a second opinion, e.g., the extremely stressful situation of a cancer diagnosis, hope for change in the treatment recommendation or dissatisfaction with the initial physicians. Conclusions Second opinions can lead to significantly greater patient satisfaction, meeting the need for information and leading to better management of patients in the extremely stressful situation of a cancer diagnosis. Doctor–patient communications play a key role.

Oncological second opinions are becoming increasingly important given more complex treatment strategies, simultaneously more patients use complementary and alternative medicine (CAM), and many comprehensive cancer centers initiate integrative medicine programs. The present study focuses on analyzing the effects of a second opinion in relation to attitudes toward CAM.In this prospective study patients (n = 97) with a diagnosis of breast cancer or gynecological malignancies who had requested a second opinion received a questionnaire before and after the second opinion concerning their attitudes toward CAM.The majority of patients had breast cancer (72.2%, n = 70). Only 6.2% (n = 6) stated that they had been informed about CAM by the doctors who treated them first, 21.6% (n = 21) had received information about it when seeking the second opinion. After the first opinion, 42.3% (n = 41) wanted to try CAM, the same proportion trusted orthodox medicine alone. After the second opinion, 24 patients (24.7%) wanted to try CAM, while 38.1% (n = 37) relied exclusively on orthodox medicine. There was a significant correlation between an increased patients' need for information and interest in CAM (p = 0.02).Today, aspects of CAM still are very often no part of oncological first and second opinions. This might hence lead to discouraging patients to try out CAM and therefore integrative medicine programs in comprehensive cancer centers might be problem-solving.Hintergrund und Ziele: Im Zeitalter der komplexeren Krebstherapien gewinnt zum einen die onkologische Zweitmeinung zunehmend an Bedeutung, zum anderen nutzen immer mehr Patientinnen komplementäre und alternativmedizinische Verfahren und in vielen zertifizierten Onkologischen Zentren entstehen Sprechstunden für Komplementär- und Alternativmedizin. Eine Ana­lyse der Effekte einer onkologischen Zweitmeinung in Bezug auf die Einstellung zur Komplementär- und Alternativmedizin war somit Fokus der vorliegenden Studie. Patientinnen und Methoden: In der prospektiven Untersuchung wurden onkologische Zweitmeinungen evalu­iert. Patientinnen (n = 97) mit der Diagnose eines Mammakarzinoms oder eines gynäkologischen Malignoms erhielten vor und zwei Monate nach der onkologischen Zweitmeinung einen Fragebogen zu ihrer Einstellung zur Komplementär- und Alternativmedizin. Ergebnisse und Beobachtungen: Die Mehrheit der Patientinnen wies ein Mammakarzinom auf (72,2%, n = 70). Nur 6,2% (n = 6) der Patientinnen gaben an von den erstbehandelnden Ärzten bzw. 21,6 % (n = 21) im Rahmen der Zweitmeinung zur Komplementär- und Alternativmedizin informiert worden zu sein. Nach der Erstmeinung wollten 42,3% (n = 41) Komplementär- und Alternativmedizin ausprobieren und genau der gleiche Anteil vertraute nur auf Schulmedizin (42,3%, n = 41). Nach der Zweitmeinung wollten 24 Patientinnen (24,7%) Komplementär- und Alternativme­dizin ausprobieren, und 38,1% (n = 37) vertrauten aus­schließlich auf Schulmedizin. Es zeigte sich eine signifikante Korrelation zwischen einem erhöhten Informations-bedürfnis der Patientinnen und dem Interesse an Komplementär- und Alternativmedizin (p = 0,02). Schlussfolgerung: Im Rahmen der onkologischen Erst- oder Zweitmeinung wird auch heute noch in vielen Fällen nicht auf Aspekte der Komplementär- und Alternativmedizin ein­gegangen, was dazu führen kann, dass Patientinnen von der Komplementär- und Alternativmedizin Abstand neh­men. Der Aufbau von Sprechstunden für Komplementär- und Alternativmedizin in zertifizierten Onkologischen Zentren könnte hier hilfreich sein.

Background: The usefulness of clinical breast examination (CBE) in general and in breast cancer screening programs has been a matter of debate. This study investigated whether adding vision-impaired medical tactile examiners (MTEs) improves the predictiveness of CBE for suspicious lesions and analyzed the feasibility and acceptability of this approach. Methods: The prospective study included 104 patients. Physicians and MTEs performed CBEs, and mammography and ultrasound results were used as the gold standard. Sensitivity and specificity were calculated and logistic regression models were used to compare the predictive value of CBE by physicians alone, MTEs alone, and physicians and MTEs combined. Results: For CBEs by physicians alone, MTEs alone, and both combined, sensitivity was 71, 82, and 89% and specificity was 55, 45, and 35%, respectively. Using adjusted logistic regression models, the validated areas under the curve were 0.685, 0.692, and 0.710 (median bootstrapped p value (DeLong) = 0.381). Conclusion: The predictive value for a suspicious breast lesion in CBEs performed by MTEs in patients without prior surgery was similar to that of physician-conducted CBEs. Including MTEs in the CBE procedure in breast units thus appears feasible and could be a way of utilizing their skills.

PURPOSE Among patients with metastatic breast cancer (mBC), the frequency of germline mutations in cancer susceptibility genes and the clinical relevance of these mutations are unclear. In this study, a prospective cohort of patients with mBC was used to determine mutation rates for breast cancer (BC) predisposition genes, to evaluate the clinical characteristics of patients with mutations, and to assess the influence of mutations on patient outcome. PATIENTS AND METHODS Germline DNA from 2,595 patients with mBC enrolled in the prospective PRAEGNANT registry was evaluated for mutations in cancer predisposition genes. The frequencies of mutations in known BC predisposition genes were compared with results from a prospective registry of patients with nonmetastatic BC sequenced using the same QIAseq method and with public reference controls. Associations between mutation status and tumor characteristics, progression-free survival, and overall survival were assessed. RESULTS Germline mutations in 12 established BC predisposition genes (including BRCA1 and BRCA2) were detected in 271 (10.4%) patients. A mutation in BRCA1 or BRCA2 was seen in 129 patients (5.0%). BRCA1 mutation carriers had a higher proportion of brain metastasis (27.1%) compared with nonmutation carriers (12.8%). Mutations were significantly enriched in PRAEGNANT patients with mBC compared with patients with nonmetastatic BC (10.4% v 6.6%, P < .01). Mutations did not significantly modify progression-free survival or overall survival for patients with mBC. CONCLUSION Multigene panel testing may be considered in all patients with mBC because of the high frequency of germline mutations in BRCA1/2 and other BC predisposition genes. Although the prognosis of mutation carriers and nonmutation carriers with mBC was similar, differences observed in tumor characteristics have implications for treatment and for future studies of targeted therapies.

Background BRCA1/2 deleterious variants account for most of the hereditary breast and ovarian cancer cases. Prediction models and guidelines for the assessment of genetic risk rely heavily on criteria with high variability such as family cancer history. Here we investigated the efficacy of MRI (magnetic resonance imaging) texture features as a predictor for BRCA mutation status. Methods A total of 41 female breast cancer individuals at high genetic risk, sixteen with a BRCA1/2 pathogenic variant and twenty five controls were included. From each MRI 4225 computer-extracted voxels were analyzed. Non-imaging features including clinical, family cancer history variables and triple negative receptor status (TNBC) were complementarily used. Lasso-principal component regression (L-PCR) analysis was implemented to compare the predictive performance, assessed as area under the curve (AUC), when imaging features were used, and lasso logistic regression or conventional logistic regression for the remaining analyses. Results Lasso-selected imaging principal components showed the highest predictive value (AUC 0.86), surpassing family cancer history. Clinical variables comprising age at disease onset and bilateral breast cancer yielded a relatively poor AUC (~ 0.56). Combination of imaging with the non-imaging variables led to an improvement of predictive performance in all analyses, with TNBC along with the imaging components yielding the highest AUC (0.94). Replacing family history variables with imaging components yielded an improvement of classification performance of ~ 4%, suggesting that imaging compensates the predictive information arising from family cancer structure. Conclusions The L-PCR model uncovered evidence for the utility of MRI texture features in distinguishing between BRCA1/2 positive and negative high-risk breast cancer individuals, which may suggest value to diagnostic routine. Integration of computer-extracted texture analysis from MRI modalities in prediction models and inclusion criteria might play a role in reducing false positives or missed cases especially when established risk variables such as family history are missing.

Introduction: Oncological second opinions are becoming increasingly important in the era of complex treatments and established certified cancer centers. Oncological guidelines with the highest levels of evidence are available, but these can only be effective to the extent that they are implemented. Therefore, we analyzed the effects of second opinions with regard to their agreement with first opinions and conformity with guidelines. Methods: In 164 patients with a diagnosis of breast cancer or gynecological malignancy who requested a second opinion, the first and second opinions, established at the interdisciplinary tumor conference, and conformity with the guidelines were evaluated. Results: The first opinion was not in agreement with the guidelines in 34.8% (15.2% diagnosis, 12.8% surgical therapy, 13.4% systemic therapy, and 5.5% radiotherapy), and the recommendations were optimized in the second opinion in 56.7% (28.7% diagnosis, 15.9% surgical therapy, 30.5% systemic therapy, and 8.5% radiotherapy). Conclusions: Oncological second opinions showed significant effects and one-third of first opinions were not in conformity with the guidelines. In a significant proportion of cases, the existing treatment plan was changed or supplemented to allow modern and individualized treatment approaches.

Introduction Studies of triple-negative breast cancer have recently been extending the inclusion criteria and incorporating additional molecular markers into the selection criteria, opening up scope for targeted therapies. The screening phases required for studies of this type are often prolonged, since the process of determining the molecular subtype and carrying out additional biomarker assessment is time-consuming. Parameters such as germline genotypes capable of predicting the molecular subtype before it becomes available from pathology might be helpful for treatment planning and optimizing the timing and cost of screening phases. This appears to be feasible, as rapid and low-cost genotyping methods are becoming increasingly available. The aim of this study was to identify single nucleotide polymorphisms (SNPs) for breast cancer risk capable of predicting triple negativity, in addition to clinical predictors, in breast cancer patients. Methods This cross-sectional observational study included 1271 women with invasive breast cancer who were treated at a university hospital. A total of 76 validated breast cancer risk SNPs were successfully genotyped. Univariate associations between each SNP and triple negativity were explored using logistic regression analyses. Several variable selection and regression techniques were applied to identify a set of SNPs that together improve the prediction of triple negativity in addition to the clinical predictors of age at diagnosis and body mass index (BMI). The most accurate prediction method was determined by cross-validation. Results The SNP rs10069690 (TERT, CLPTM1L) was the only significant SNP (corrected p = 0.02) after correction of p values for multiple testing in the univariate analyses. This SNP and three additional SNPs from the genes RAD51B, CCND1, and FGFR2 were selected for prediction of triple negativity. The addition of these SNPs to clinical predictors increased the cross-validated area under the curve (AUC) from 0.618 to 0.625. Age at diagnosis was the strongest predictor, stronger than any genetic characteristics. Conclusion Prediction of triple-negative breast cancer can be improved if SNPs associated with breast cancer risk are added to a prediction rule based on age at diagnosis and BMI. This finding could be used for prescreening purposes in complex molecular therapy studies for triple-negative breast cancer. Einleitung Studien bei triple-negativem Brustkrebs haben die Einschlusskriterien durch die Aufnahme zusatzlicher molekularer Marker erweitert. Im Rahmen des Screenings fur diese Therapiestudien wird sowohl fur die Bestimmung des molekularen Subtyps als als auch fur zusatzliche Biomarker-Untersuchungen ein langerer Zeitraum beansprucht, was die Behandlung verzogert. Keimbahn-Genotypen konnten bei der Vorhersage des molekularen Subtyps helfen, zumal schnelle und gunstige Genotypisierungsmethoden zunehmend zur Verfugung stehen. Ziel dieser Studie war es deswegen, zu prufen, ob Einzelnukleotid-Polymorphismen (SNPs) der Keimbahn dabei helfen konnen, Brustkrebspatientinnen mit triple-negativem Mammakarzinom zu identifizieren. Methoden In dieser Querschnittsstudie wurden 1271 Patientinnen mit invasivem Mammakarzinom eingeschlossen. Insgesamt wurden 76 validierte Brustkrebsrisiko-SNPs erfolgreich genotypisiert. Univariate Assoziationen zwischen jedem SNP und Triple-Negativitat wurden mittels logistischer Regression gepruft. Verschiedene Variablenselektions- und Regressionsmethoden wurden angewandt, um eine Gruppe von SNPs zu identifizieren, die zusammen mit den klinischen Pradiktoren Alter bei Diagnose und BMI die Pradiktion der Triple-Negativitat verbessern. Mittels Kreuzvalidierung wurde die Methode mit der hochsten Genauigkeit bestimmt. Ergebnisse Der SNP rs10069690 (TERT, CLPTM1L) war der einzige einzelne SNP, der nach p-Wert-Korrektur fur multiples Testen signifikant mit Triple-Negativitat assoziiert war (p = 0,02). Dieser SNP und 3 weitere in den Genen RAD51B, CCND1 und FGFR2 wurden ausgewahlt, um gemeinsam in einem Pradiktionsmodell Triple-Negativitat vorherzusagen. Die Hinzunahme dieser 4 SNPs erhohte die kreuzvalidierte AUC von 0,618 auf 0,625. Alter bei Diagnose war bei Weitem der starkste Pradiktor. Schlussfolgerung Die Vorhersage von triple-negativem Mammakarzinom kann verbessert werden, wenn sie nicht nur auf den klinischen Pradiktoren Alter bei Diagnose und BMI basiert, sondern auch auf Brustkrebsrisiko-SNPs. Das Pradiktionsmodell konnte bei der Rekrutierung von Patientinnen fur aufwendige molekulare Therapiestudien eingesetzt werden.

Zusammenfassung Ziel Die Kombination verschiedener bildgebender Verfahren in Fusionsmaschinen verspricht, eine deutliche Verbesserung der Brustdiagnostik mit sich zu bringen. Hier wollen wir die Bildqualität und die klinische Anwendbarkeit eines Fusionsprototypen aus einem Standard-Mammografie/Tomosynthese-Gerät und einem Standard-3-D-Ultraschallkopf unter Zuhilfenahme einer neuen Methode der Brustkomprimierung evaluieren. Material und Methoden Für die Untersuchung an 5 Mastektomiepräparaten von Patientinnen mit histologisch gesichertem DCIS oder invasivem Mammakarzinom (BI-RADS™ 6) wurde an einem präklinischen Fusionsprototyp ein Ultraschallkopf eines ABVS-Systems aus einem Acuson S2000 in einen MAMMOMAT Inspiration (beide Siemens Healthcare GmbH) unter Zuhilfenahme einer neu entwickelten Kompressionsplatte integriert und digitale Mammografien und 3-D-Bilder per automatisiertem Ultraschall aufgenommen. Ergebnisse Die durch den Fusionsprototyp aufgenommenen digitalen Mammografien sind von vergleichbarer Qualität wie unter herkömmlicher Kompression entstandene Aufnahmen. Die neu entwickelte Kompressionsplatte hat keinen Einfluss auf die applizierte Röntgendosis. Der personelle und zeitliche Aufwand für die Mammografie unterscheidet sich nicht zur herkömmlichen Mammografie. Die Fusion aus Mammografie und Ultraschall lässt sich technisch umsetzen. Schlussfolgerung Die Fusion eines automatisierten 3-D-Ultraschallgeräts mit einem Standard-Mammografiegerät liefert an unseren wenigen Mastektomiepräparaten Mammografieaufnahmen von vergleichbarer Qualität. Darüber hinaus ermöglicht das Gerät den simultanen Ultraschall als 2. Bildmodalität der komplementären Mammadiagnostik ohne einen signifikanten Zeit- und zusätzlichen Untersucheraufwand.

Background X‐ray dark‐field radiography could enhance mammography by providing more information on imaged tissue and microcalcifications. The dark field signal is a measure of small angle scattering and can thus provide additional information on the imaged materials. This information can be useful for material distinction of calcifications and the diagnosis of breast cancer by classifying benign and malign association of these calcifications. Methods: For this study, institutional review board approval was obtained. We present the evaluation of images acquired with interferometric grating‐based x‐ray imaging of 323 microcalcifications (166 malign and 157 benign associated) in freshly dissected breast tissue and compare the results to the information extracted in follow‐up pathological evaluation. The number of imaged calcifications is sufficiently higher than in similar previous studies. Fourteen calcification properties were extracted from the digital images and used as predictors in three different models common in discrimination analysis namely a simple threshold model, a naive Bayes model and a linear regression model, which classify the calcifications as associated with a benign or suspicious finding. Three of these fourteen predictors have been newly defined in this work and are independent from the tissue background surrounding the microcalcifications. Using these predictors no background correction is needed, as in previous works in this field. The new predictors are the length of the first and second principle component of the absorption and dark‐field data, as well as the angle between the first principle component and the dark‐field axis. We called these predictors data length, data width, and data orientation. Results In fourfold cross‐validation malignancy of the imaged tissue was predicted. Models that take only classical absorption predictors into account reached a sensitivity of 53.3% at a specificity of 81.1%. For a combination of predictors that also include dark field information, a sensitivity of 63.2% and specificity of 80.8% were obtained. The included dark field information consisted of the newly introduced parameters, data orientation and data width. Conclusions While remaining at a similar specificity, the sensitivity, with which a trained model was able to distinguish malign from benign associated calcifications, was increased by 10% on including dark‐field information. This suggests grating‐based x‐ray imaging as a promising clinical imaging method in the field of mammography.

Breast cancer risk is reduced by number of pregnancies and breastfeeding duration, however studies of breast changes during or after pregnancy are rare. Breast volume changes – although not linked to breast cancer risk – might be an interesting phenotype in this context for correlative studies, as changes of breast volume vary between pregnant women. Serum receptor activator of nuclear factor kappa B ligand (RANKL) and its antagonist osteoprotegerin (OPG) were measured prospectively before gestational week 12, and three-dimensional breast volume assessments were performed. A linear regression model including breast volume at the start of pregnancy, RANKL, OPG, and other factors was used to predict breast volume at term. The mean breast volume was 413 mL at gestational week 12, increasing by a mean of 99 mL up to gestational week 40. In addition to body mass index and breast volume at the beginning of pregnancy, RANKL and OPG appeared to influence breast volume with a mean increase by 32 mL (P = 0.04) and a mean reduction by 27 mL (P = 0.04), respectively. Linking the RANKL/RANK/OPG pathway with breast volume changes supports further studies aiming at analysing breast changes during pregnancy with regard to breast cancer risk.

Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high- and moderate to low-penetrance susceptibility genes. With the advent of next generation sequencing (NGS) simultaneous testing of these genes has become feasible. In this monocentric study, we report results of panel-based screening of 14 BC/OC susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, TP53, MLH1, MSH2, MSH6 and PMS2) in a group of 581 consecutive individuals from a German population with BC and/or OC fulfilling diagnostic criteria for BRCA1 and BRCA2 testing including 179 with a triple-negative tumor. Altogether we identified 106 deleterious mutations in 105 (18%) patients in 10 different genes, including seven different exon deletions. Of these 106 mutations, 16 (15%) were novel and only six were found in BRCA1/2. To further characterize mutations located in or nearby splicing consensus sites we performed RT-PCR analysis which allowed confirmation of pathogenicity in 7 of 9 mutations analyzed. In PALB2, we identified a deleterious variant in six cases. All but one were associated with early onset BC and a positive family history indicating that penetrance for PALB2 mutations is comparable to BRCA2. Overall, extended testing beyond BRCA1/2 identified a deleterious mutation in further 6% of patients. As a downside, 89 variants of uncertain significance were identified highlighting the need for comprehensive variant databases. In conclusion, panel testing yields more accurate information on genetic cancer risk than assessing BRCA1/2 alone and wide-spread testing will help improve penetrance assessment of variants in these risk genes.

Background: Mammography can identify calcifications up to 50–100 μm in size as a surrogate parameter for breast cancer or ductal carcinoma in situ (DCIS). Microcalcifications measuring Methods: Talbot–Lau X-ray phase–contrast imaging and X-ray dark-field imaging were used to acquire images of breast specimens. The radiation dosage with the technique is comparable with conventional mammography. Three X-ray gratings with periods of 5–10 µm between the X-ray tube and the flat-panel detector provide three different images in a single sequence: the conventional attenuation image, differential phase image, and dark-field image. The images were read by radiologists. Radiological findings were marked and examined pathologically. The results were described in a descriptive manner. Results: A total of 81 breast specimens were investigated with the two methods; 199 significant structures were processed pathologically, consisting of 123 benign and 76 malignant lesions (DCIS or invasive breast cancer). X-ray dark-field imaging identified 15 additional histologically confirmed carcinoma lesions that were visible but not declared suspicious on digital mammography alone. Another four malignant lesions that were not visible on mammography were exclusively detected with X-ray dark-field imaging. Conclusions: Adding X-ray dark-field imaging to digital mammography increases the detection rate for breast cancer and DCIS associated lesions with micrometer-sized calcifications. The use of X-ray dark-field imaging may be able to provide more accurate and detailed radiological classification of suspicious breast lesions. Adding X-ray dark-field imaging to mammography may be able to increase the detection rate and improve preoperative planning in deciding between mastectomy or breast-conserving therapy, particularly in patients with invasive lobular breast cancer.

Over the last two decades genetic testing for mutations in BRCA1 and BRCA2 has become standard of care for women and men who are at familial risk for breast or ovarian cancer. Currently, genetic testing more often also includes so-called panel genes, which are assumed to be moderate-risk genes for breast cancer. Recently, new large-scale studies provided more information about the risk estimation of those genes. The utilization of information on panel genes with regard to their association with the individual breast cancer risk might become part of future clinical practice. Furthermore, large efforts have been made to understand the influence of common genetic variants with a low impact on breast cancer risk. For this purpose, almost 450 000 individuals have been genotyped for almost 500 000 genetic variants in the OncoArray project. Based on first results it can be assumed that – together with previously identified common variants – more than 170 breast cancer risk single nucleotide polymorphisms can explain up to 18% of familial breast cancer risk. The knowledge about genetic and non-genetic risk factors and its implementation in clinical practice could especially be of use for individualized prevention. This includes an individualized risk prediction as well as the individualized selection of screening methods regarding imaging and possible lifestyle interventions. The aim of this review is to summarize the most recent developments in this area and to provide an overview on breast cancer risk genes, risk prediction models and their utilization for the individual patient.

Background Combinations *Equal contributors. of different imaging techniques in fusion devices appear to be associated with improvements in diagnostic assessment. Purpose The aim of this study was to test the feasibility of using an automated standard three-dimensional (3D) ultrasound (US) device fused with standard mammography for the first time in breast cancer patients. Material and Methods Digital mammograms and 3D automated US images were obtained in 23 patients with highly suspicious breast lesions. A recently developed fusion machine consisting of an ABVS 3D US transducer from an Acuson S2000 machine and a conventional Mammomat Inspiration device (both Siemens Healthcare GmbH, Erlangen, Germany) were used for the purpose. The feasibility of the examinations, imaging coverage, and patients' experience of the procedure were examined. Results In 15 out of 19 patients, the region of interest (ROI) with the tumor marked in the mammogram was visible on US. The examination was experienced positively by the patients, with no unexpected pain or injury. The examination was time-saving and well tolerated. Conclusion In conclusion, we have shown initial clinical feasibility of an US/radiography fusion prototype with good localization and evaluation of the ROIs. The combined examination was well tolerated. The simultaneous evaluation with mammography and US imaging may be able to improve detection and reduce examiner-related variability.

Die Zahl der Krebserkrankungen steigt kontinuierlich. Die gynakologischen Malignome umfassen in Deutschland 97.480 Falle pro Jahr, d. h. 43 % der Gesamterkrankungsfalle der Frau. Des Weiteren sind gynakologische Malignome fur 28 % der Sterbefalle verantwortlich. Diese Zahlen verdeutlichen die Notwendigkeit einer optimalen individualisierten Therapieentscheidung, um eine maximale Effektivitat zu erreichen, Rezidive und metastasierte Verlaufe zu verhindern und Ubertherapien zu vermeiden. Fur die Entscheidung zur (neo-)adjuvanten bzw. First-Line-Therapie von Patientinnen mit einem senologischen bzw. gynakologischen Tumor sind zuverlassige und validierte prognostische und pradiktive Faktoren erforderlich. Im Zeitalter der individualisierten, zielgerichteten Therapie stehen weniger pradiktive Faktoren zur Verfugung als weitlaufig angenommen. Dennoch zeigen sich fur die unterschiedlichen Tumorentitaten vielversprechende Ansatze, die zukunftig eine Entscheidung zur adjuvanten Systemtherapie deutlich unterstutzen konnen, z. B. Genexpressionsanalysen, Untersuchungen von Genkopievariationen oder der Nachweis einzelner Mutationen, die eine bedeutsame Rolle in den Signalwegen der Tumorzellen spielen.

BRCA1/2 mutations influence the molecular characteristics and the effects of systemic treatment of breast cancer. This study investigates the impact of germline BRCA1/2 mutations on pathological complete response and prognosis in patients receiving neoadjuvant systemic chemotherapy. Breast cancer patients were tested for a BRCA1/2 mutation in clinical routine work and were treated with anthracycline-based or platinum-based neoadjuvant chemotherapy between 1997 and 2015. These patients were identified in the tumor registry of the Breast Center of the University of Erlangen (Germany). Logistic regression and Cox regression analyses were performed to investigate the associations between BRCA1/2 mutation status, pathological complete response, disease-free survival, and overall survival. Among 355 patients, 59 had a mutation in BRCA1 or in BRCA2 (16.6%), 43 in BRCA1 (12.1%), and 16 in BRCA2 (4.5%). Pathological complete response defined as “ypT0; ypN0” was observed in 54.3% of BRCA1/2 mutation carriers, but only in 22.6% of non-carriers. The adjusted odds ratio was 2.48 (95% CI 1.26–4.91) for BRCA1/2 carriers versus non-carriers. Patients who achieved a pathological complete response had better disease-free survival and overall survival rates compared with those who did not achieve a pathological complete response, regardless of BRCA1/2 mutation status. BRCA1/2 mutation status leads to better responses to neoadjuvant chemotherapy in breast cancer. Pathological complete response is the main predictor of disease-free survival and overall survival, independently of BRCA1/2 mutation status.

Aim The combination of different imaging modalities through the use of fusion devices promises significant diagnostic improvement for breast pathology. The aim of this study was to evaluate image quality and clinical feasibility of a prototype fusion device (fusion prototype) constructed from a standard tomosynthesis mammography unit and a standard 3D ultrasound probe using a new method of breast compression. Materials and Methods Imaging was performed on 5 mastectomy specimens from patients with confirmed DCIS or invasive carcinoma (BI-RADS™ 6). For the preclinical fusion prototype an ABVS system ultrasound probe from an Acuson S2000 was integrated into a MAMMOMAT Inspiration (both Siemens Healthcare Ltd) and, with the aid of a newly developed compression plate, digital mammogram and automated 3D ultrasound images were obtained. Results The quality of digital mammogram images produced by the fusion prototype was comparable to those produced using conventional compression. The newly developed compression plate did not influence the applied x-ray dose. The method was not more labour intensive or time-consuming than conventional mammography. From the technical perspective, fusion of the two modalities was achievable. Conclusion In this study, using only a few mastectomy specimens, the fusion of an automated 3D ultrasound machine with a standard mammography unit delivered images of comparable quality to conventional mammography. The device allows simultaneous ultrasound – the second important imaging modality in complementary breast diagnostics – without increasing examination time or requiring additional staff.

Objectives Risk-reducing surgeries are a feasible option for mitigating the risk in individuals with inherited susceptibility to cancer, but are the procedures cost-effective in the current health-care system in Germany? This study compared the health-care costs for bilateral risk-reducing mastectomy (BRRM) and risk-reducing (bilateral) salpingo-oophorectomy (RRSO) with cancer treatment costs that could potentially be prevented. Patients and methods The analysis is based on interdisciplinary consultations with individuals with a high familial risk for breast and ovarian cancer at the University Breast Center for Franconia (Germany) between 2009 and 2013 (370 consultations; 44 patients with BRCA1 mutations and 26 with BRCA2 mutations). Health-care costs for risk-reducing surgeries in BRCA mutation carriers were calculated as reimbursements in the German diagnosis-related groups (DRG) hospital pricing system. These costs for the health-care system were compared with the potential cancer treatment costs that could possibly be prevented by risk-reducing surgeries. Results Long-term health-care costs can be reduced by risk-reducing surgeries after genetic testing in BRCA mutation carriers. The health-care system in Germany would have saved € 136,295 if BRRM had been performed and € 791,653 if RRSO had been performed before the development of cancer in only 50% of the 70 mutation carriers seen in our center. Moreover, in patients with combined RRSO and BRRM (without breast reconstruction), one further life-year for a 40-year-old BRCA mutation carrier would cost € 2,183. Conclusion Intensive care, including risk-reducing surgeries in BRCA mutation carriers, is cost-effective from the point of view of the health-care system in Germany.