Strain Elastography in Invasive Lobular Carcinoma

Breast cancer remains the second cause of mortality in women, even if the mortality rates linked to it have drastically dropped at the present time. Invasive lobular carcinoma (ILC) accounts for 5–15% of the breast cancers and it is the second most encountered type among invasive carcinomas. There has been reported a high rate for bilateral lesions (6–47%), multifocality/multicentricity (21%), all affecting ILC overall survival. Due to its nonspecific symptoms and to the fact that it does not invoke a vigorous desmoplastic response and has a low likelihood of producing calcifications, the ILC tends to be insidious on mammography. Contrast enhanced MRI has the lowest false negative rate in detecting ILC and it is the most accurate method of determining the lesion extension, though it is expensive and not widely available. Therefore, the ultrasound (US) plays a significant role in the diagnosis of ILC. US elastography imaging (EI) individualizes malignant breast lesions with high sensitivity and specificity. Recent studies suggested that US elastography can even diagnose lobular cancers that have benign findings on conventional imaging. Goal: present various US aspects and exemplify the added diagnostic value of strain elastography—how it may change the BIRADS category and further therapeutic management

The Role of US in Depicting Axillary Metastasis in High-Risk Breast Cancer Patients

Purpose: The aim of this study is to evaluate the role of US in depicting axillary nodal disease in high-risk patients with and without pathogenic mutations. Methods: The retrospective study included consecutive high-risk breast cancer (BC) patients who underwent a multigene testing panel for hereditary cancers, pre-operative axillary US and breast/axillary surgery. The group was divided into patients with pathogenic mutations (PM group) and patients without PM. Statistical analyses were performed using GraphPad Prism by applying Chi-square and Fisher exact tests, with a reference p-value Results: Out of 190 patients with BC, 96 (51%) were negative and 94 (49%) were positive for PM as follows: 28 (25.5%) BRCA1, 16 (17%) BRCA2, 15 (16%) CHECK2, 14 (14%) RAD Group, 7 (7%) PALB, 6 (6%) NBN, 3 (3%) TP53 and ATM and 2 (2%) BARD1. US was positive in 88 of the patients, 36 with PM and 52 without PM. US and surgery (≥N1 stage) were both positive in 31 (62%) of PM patients and 44 (88%) of patients without genetic changes. There were 19 (61%) false negative US examinations in the PM group and 6 (13%) in the group without genetic changes, respectively. If the US is positive, there is a 2.6 times greater risk of positive nodes in PM patients (p-value p-value BRCA1/2 subgroup, there is 2.5 greater times risk of nodal disease if the US is positive (p-value = 0.001, 95%CI = 2.6–76). In patients without PM, US compared to surgery reached a sensitivity = 88, PPV = 84 and NPV = 86. Conclusion: US is more sensitive in depicting axillary nodal disease in high-risk patients without PM compared to PM patients. Furthermore, there are more false negative US examinations in PM patients, compared to surgery patients

Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer

The purpose of this study is to evaluate the relationship between the pathogenic/likely pathogenic mutations, US features, and histopathologic findings of breast cancer in mutation carriers compared to non-carrier patients. Methods: In this retrospective study, we identified 264 patients with breast cancer and multigene panel testing admitted to our clinic from January 2018 to December 2020. Patient data US findings, US assessment of the axilla, multigene panel tests, histopathology, and immunochemistry reports were reviewed according to the BI-RADS lexicon. Results: The study population was comprised of 40% pathogenic mutation carriers (BRCA1, BRCA2, CHEK2, ATM, PALB, TP 53, NBN, MSH, BRIP 1 genes) and 60% mutation-negative patients. The mean patient age was 43.5 years in the carrier group and 44 years in the negative group. Carrier patients developed breast cancer with benign morphology (acoustic enhancement, soft elastography appearance) compared to non-carriers (p < 0.05). A tendency towards specific US features was observed for each mutation. BRCA1 carriers were associated with BC with microlobulated margins, hyperechoic rim, and soft elastography appearance (p < 0.05). Estrogen receptor (ER)-negative tumors were associated with BRCA1, TP53, and RAD mutations, while BRCA2 and CHEK2 were associated with ER-positive tumors. Conclusions: Patients with pathogenic mutations may exhibit BC with benign US features compared to negative, non-carrier patients. BRCA1, TP53, and RAD carriers account for up to one third of the ER tumors from the carrier group. Axillary US performed worse in depicting involved lymph nodes in carrier patients, compared to negative patients

Typical and unusual sonoelastographic patterns of breast cystic lesions: impact on BI-RADS classification

Purpose: To describe the sonoelastographic appearance of breast cysts (simple, complicated-cysts with sedimentation and complex-cysts with internal solid parts). To assess the influence of sonoelastography on the BI-RADS classification of complicated cysts. Materials and Methods: A prospective study was conducted and all cysts diagnosed by the same radiologist between May 2007 and July 2008 in our breast unit were included. Each lesion was assessed according to BI-RADS and the Tsukuba elasticity score using a Hitachi 8500 US device. Cytology or histopathology was obtained for complicated and complex cysts. Results: 49 simple, 43 complicated and 14 complex cysts were detected. The elasticity patterns were divided into 4 categories: typical BGR (blue-green-red) pattern, appearance similar to that described for solid. lesions, variants of BGR, an inverse score of 3. The BGR pattern was predominant in breast cysts. Atypical elasticity patterns were mostly associated with complicated and complex cysts. BI-RADS classification of complicated cysts before and after elastography showed a statistically significant difference in terms of final category assessment (most of the complicated cysts were downgraded to BI-RADS 2 after elastography). Conclusion: Being aware of the wide spectrum of elastographic patterns of breast cysts and considering elastography when assessing the BI-RADS category of complicated cysts may lead radiologists to better patient management.Ziel: Ziel war die Beschreibung der sonoelastischen Darstellung von Mammazysten (einfache Zysten, komplizierte Zysten mit Sedimentation und komplexe Zysten mit soliden Anteilen) sowie die Beurteilung des Einflusses der Sonoelastografie auf die BI-RADS Klassifikation bei komplizierten Zysten. Material und Methoden: Zwischen Mai 2007 und Juli 2008 wurden prospektiv alle Patienten unseres Brustzentrums mit Mammazysten in eine Studie eingeschlossen. Die Untersuchungen wurden alle durch den gleichen Radiologen durchgeführt. Alle Läsionen wurde mittels BI-RADS und dem Tsukuba Score mit einem Hitachi 8500 US Gerät klassifiziert. Biopsien zur zytologischen oder histopathologischen Diagnostik wurden bei komplizierten und komplexen Zysten durchgeführt. Ergebnisse: 49 einfache, 43 komplizierte und 14 komplexe Zysten wurden untersucht. Die Elastizitätsmuster wurden in vier Kategorien eingeteilt: typisches BGR-Muster (BGR: blau-grün-rot), Muster ähnlich wie bei soliden Läsionen beschrieben, Varianten von BGR, und ein inverser Score 3. Das BGR-Muster wurde überwiegend in einfachen Zysten gefunden. Atypische Elastizitätsmuster wurden überwiegend bei komplizierten und bei komplexen Zysten gefunden. Die BI-RADS Klassifikation komplizierter Zysten war vor und nach Elastografie signifikant unterschiedlich hinsichtlich der endgültigen Zuordnung zu einer Kategorie (die meisten komplizierten Zysten wurden nach Elastografie auf BI-RADS 2 heruntergestuft). Schlussfolgerung: Die Kenntnis des großen Spektrums elastografischer Darstellungsmuster von Mammazysten und das Einbeziehen der Elastografie bei der BI-RADS Klassifikation komplizierter Zysten kann dem Radiologen ein besseres Patientenmanagement ermöglichen

Multiparametric MRI Features of Breast Cancer Molecular Subtypes

Background and Objectives: Breast cancer (BC) molecular subtypes have unique incidence, survival and response to therapy. There are five BC subtypes described by immunohistochemistry: luminal A, luminal B HER2 positive and HER2 negative, triple negative (TNBC) and HER2-enriched. Multiparametric breast MRI (magnetic resonance imaging) provides morphological and functional characteristics of breast tumours and is nowadays recommended in the preoperative setting. Aim: To evaluate the multiparametric MRI features (T2-WI, ADC values and DCE) of breast tumours along with breast density and background parenchymal enhancement (BPE) features among different BC molecular subtypes. Materials and Methods: This was a retrospective study which included 344 patients. All underwent multiparametric breast MRI (T2WI, ADC and DCE sequences) and features were extracted according to the latest BIRADS lexicon. The inter-reader agreement was assessed using the intraclass coefficient (ICC) between the ROI of ADC obtained from the two breast imagers (experienced and moderately experienced). Results: The study population was divided as follows: 89 (26%) with luminal A, 39 (11.5%) luminal B HER2 positive, 168 (48.5%) luminal B HER2 negative, 41 (12%) triple negative (TNBC) and 7 (2%) with HER2 enriched. Luminal A tumours were associated with special histology type, smallest tumour size and persistent kinetic curve (all p-values < 0.05). Luminal B HER2 negative tumours were associated with lowest ADC value (0.77 × 10−3 mm2/s2), which predicts the BC molecular subtype with an accuracy of 0.583. TNBC were associated with asymmetric and moderate/marked BPE, round/oval masses with circumscribed margins and rim enhancement (all p-values < 0.05). HER2 enriched BC were associated with the largest tumour size (mean 37.28 mm, p-value = 0.02). Conclusions: BC molecular subtypes can be associated with T2WI, ADC and DCE MRI features. ADC can help predict the luminal B HER2 negative cases

Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer

Background: Classification of splicing variants (SVs) in genes associated with hereditary cancer is often challenging. The aim of this study was to investigate the occurrence of SVs in hereditary cancer genes and the clinical utility of RNA analysis. Material and Methods: 1518 individuals were tested for cancer predisposition, using a Next Generation Sequencing ( NGS) panel of 36 genes. Splicing variant analysis was performed using RT-PCR and Sanger Sequencing. Results: In total, 34 different SVs were identified, 53% of which were classified as pathogenic or likely pathogenic. The remaining 16 variants were initially classified as Variant of Uncertain Significance (VUS). RNA analysis was performed for 3 novel variants. Conclusion: The RNA analysis assisted in the reclassification of 20% of splicing variants from VUS to pathogenic. RNA analysis is essential in the case of uncharacterized splicing variants, for proper classification and personalized management of these patients