Benign Breast Disease Research Articles

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Abstract Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6. The predominant phenotype is characterized by early-onset bilateral enlarged kidneys, as well as fibrocystic changes in the kidney and liver. Fetuses or infants usually present with Potter syndrome, and they are more likely to develop severe renal insufficiency. Generally, patients die perinatally or in infancy. Liver involvement has been reported in adults with ARPKD who have survived the neonatal period and childhood. However, renal involvement is rarely expected in adulthood. The case is being presented for its clinical rarity, in addition to emphasize the critical role of NGS approaches in diagnosis. Case presentation We hereby describe a 33-year-old female with adult-onset proteinuria and nephromegaly. She had a rare homozygous missense mutation of the PKHD1 gene with autosomal recessive inheritance. The proband has consanguineous heterozygote parents. The mutation was identified by whole-exome sequencing, and the results were confirmed by segregation analysis. Conclusion Here, we reported a thorough literature review of late-onset autosomal recessive polycystic kidney disease. Furthermore, we explored the importance of genetic work-up in families with genetic disorders and consanguineous marriages, particularly in underdeveloped countries.

Effectiveness of ultrasound-guided vacuum-assisted excision for treating benign breast lesions.

Ultrasound‑guided vacuum-assisted excision (UGVAE) and breast biopsy are widely used for the diagnosis and treatment of both benign and suspicious breast lesions. In this retrospective study, we aimed to determine the safety of UGVAE for benign breast lesions and provide guidance for clinical practice. We analyzed clinical and pathological data of female patients who had undergone UGVAE between January 2015 and December 2017 at our institution. All breast lesions were categorized according to the Breast Imaging Reporting and Data System (BI-RADS) before performing UGVAE. In our study cohort, UGVAE was used to resect 10,378 breast lesions from 5789 patients, and selected clinical and histopathological data were analyzed. The most common adverse events were postoperative bleeding (0.24%) and skin hypersensitivity (0.67%). The residual lesion rate was 2.27%. Fibroadenomas accounted for most of the benign lesions (7932 of 10,193; 77.82%). Breast cancer was diagnosed in 150 lesions from 128 patients. Multivariable binary logistic regression analyses showed that older age (odds ratio [OR] = 2.034, 95% confidence interval [CI]: 1.668-2.480, p < 0.001), higher BI-RADS category (OR = 9.514, 95% CI: 6.790-13.332, p < 0.001), and larger legion size (OR = 1.048, 95% CI: 1.019-1.077, p = 0.001) were associated with an increased likelihood of breast cancer. Ninety-six patients with breast cancer had undergone follow-up treatment, achieving a 3-year disease-free survival rate of 97.2% and a 3-year overall survival rate of 100%. UGVAE is a safe and effective means of removing benign breast lesions, causing minimal postoperative trauma and fewer complications compared with open surgery. Moreover, UGVAE had little impact on the follow-up treatment and survival of patients diagnosed with breast cancer.

Infertility treatments and risk of breast benign diseases: a case‒control study

BackgroundTheoretically, endocrine fluctuations occurring during infertility treatments, including ovulation induction (OI) and assisted reproductive techniques (ART), could be associated with an increased risk of benign breast diseases (BBDs). To date, no studies have been conducted on this association. Therefore, the present study investigated the association between different types of infertility treatments and BBDs.MethodsThis case‒control study was conducted in Arash Women’s Hospital, Tehran, Iran. The case group included infertile women diagnosed with BBDs without atypia, and the control group included infertile women without breast disease. Breast imaging studies (mammography/ultrasound) were performed for BBD screening, and the diagnosis was confirmed by histopathological examination. Study variables were collected retrospectively from medical records, hospital databases, and questionnaires.ResultsFinally, 154 infertile women, including 50 cases (BBDs) and 104 controls (no BBDs), were compared. Our data showed that 66% of cases and 61.4% of controls had undergone at least one course of infertility treatment. There was no association between BBD risk and previous infertility treatments (OR = 1.21; 95% CI = 0.59–2.46), ART (OR = 1.14; 95% CI = 0.90–1.44), or OI cycles (OR = 1.13; 95% CI = 0.98–1.32). Stratification by confounding variables did not change these results.ConclusionsIt seems that there is no association between BBDs in infertile women and the type, duration, or number of prior infertility treatments; however, considering the small sample size of the study, the clinical significance of this finding should not be neglected. Therefore, we consider it essential to carry out more extensive, detailed, and prospective studies to distinguish the association of BBDs with different infertility treatments and medications.

Interaction of base excision repair gene polymorphism and estrogen-DNA adducts in breast cancer risk among East Asian women.

In East Asia, the incidence of breast cancer has been increasing rapidly, particularly among premenopausal women. An elevated ratio of estrogen-DNA adducts was linked to a higher risk of breast cancer. The present study explored the influence of the interaction between base excision repair (BER) gene polymorphisms and estrogen-DNA adducts on breast cancer risk. We conducted a case-control study comprising healthy volunteers and individuals with benign breast disease (control arm, n = 176) and patients with invasive carcinoma or carcinoma in situ (case arm, n = 177). Genotyping for BER-related genes, including SMUG1, OGG1, ERCC5, and APEX1, was performed. A logistic regression model, incorporating interactions between gene polymorphisms, estrogen-DNA adduct ratio, and clinical variables, was used to identify the risk factors for breast cancer. Univariate analysis indicated marginal associations between breast cancer risk and APEX1 rs1130409 T > G (P = 0.057) and APEX1 rs1760944 T > G (P = 0.065). Multivariate regression analysis revealed significant associations with increased breast cancer risk for APEX1_rs1130409 (GT/GG versus TT) combined with a natural logarithmic value of the estrogen-DNA adduct ratio (estimated OR 1.164, P = 0.023) and premenopausal status with an estrogen-DNA adduct ratio > 2.93 (estimated OR 2.433, P = 0.001). APEX1_rs1130409 (GT/GG versus TT) polymorphisms, which are related to decreased BER activity, combined with an increased ratio of estrogen-DNA adducts, increase the risk of breast cancer in East Asian women.

Pseudoangiomatous stromal hyperplasia causing bilateral galactomastia with short-term recurrence after surgery: a case report.

Pseudoangiomatous stromal hyperplasia (PASH) is a rare, benign breast lesion characterized by collagen proliferation, often identified as an incidental microscopic finding. Clinically, it may present as a palpable, well-defined breast mass or, in rare instances, as a diffuse, bilateral process leading to significant breast enlargement. We herein report a case of extensive diffuse PASH with short-term recurrence following lesion resection at another hospital. Because of the severity of symptoms, the patient underwent bilateral mastectomy at our facility. This article reviews the clinical, radiologic, and pathologic features of PASH and emphasizes the importance of an accurate preoperative imaging diagnosis for guiding appropriate treatment.

New functions of B9D2 in tight junctions and epithelial polarity

Ciliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating causes of neuronal and skeletal development disorders, the origins of other ciliopathy-related conditions, such as hepatic fibrocystic diseases, remain elusive. Additionally, attempts to correlate specific ciliary proteins with distinct phenotypes have been largely unsuccessful due to the variable and overlapping symptoms of ciliopathies. This study aims to elucidate the extraciliary roles of the protein B9D2 in the development of biliary dysgenesis, a condition present in Meckel-Gruber and Joubert syndromes caused by mutations in this protein. Traditionally, B9D2 is known for its role at the transition zone of the primary cilium in the transduction of signalling pathways notably Wingless and Hedgehog. Our work demonstrates that before ciliogenesis occurs, B9D2 is crucial for the maturation and maintenance of tight junctions ensuring epithelial barrier tightness and appropriate biliary lumen formation. This study provides new insights into the mechanisms underlying biliary dysgenesis in hepatic ciliopathies, suggesting that further exploration of the non-ciliary functions of proteins involved in ciliopathies could lead to a better understanding and treatment of these complex disorders.

Benign and malignant breast lesions in children and adolescents - diagnostic and therapeutic approach.

Benign and malignant breast lesions in children and adolescents are rare compared to adults. Most tumors are benign. Malignant breast lesions are extremely rare. Fibroadenomas are the most common, accounting for 95% of all lesions. Diagnosis is based on history and physical examination of the breast and armpit. Imaging studies include ultrasound, mammography, and magnetic resonance imaging. Ultrasound is the most commonly used imaging test. Other tests are used in cases of diagnostic doubt. Core needle biopsy should be considered for appropriate diagnostic management. Excisional biopsy should be considered for complex clinical conditions and imaging studies. Except in doubtful situations in children and adolescent girls, a conservative approach and observation of the lesions along with periodic ultrasound examination initially every 6-12 months is advisable. Management of malignant breast lesions in children typically involves a multidisciplinary team consisting of pediatric oncologists, surgeons, radiation oncologists, pathologists, and other specialists and depends on the clinical condition of the patient. An important aspect is the experience of the clinician and radiologist in the treatment of breast lesions, as well as increasing patient and family awareness of possible breast lesions and self-examination. This review aims to provide a scoping overview of the available literature on benign and malignant lesions of the breast in pediatric and adolescent populations to assist physicians and surgeons in making decisions regarding the appropriate diagnosis and management of pediatric breast disease.

Study on the classification of benign and malignant breast lesions using a multi-sequence breast MRI fusion radiomics and deep learning model

PurposeTo develop a multi-modal model combining multi-sequence breast MRI fusion radiomics and deep learning for the classification of benign and malignant breast lesions, to assist clinicians in better selecting treatment plans. MethodsA total of 314 patients who underwent breast MRI examinations were included. They were randomly divided into training, validation, and test sets in a ratio of 7:1:2. Subsequently, features of T1-weighted images (T1WI), T2-weighted images (T2WI), and dynamic contrast-enhanced MRI (DCE-MRI) were extracted using the convolutional neural network ResNet50 for fusion, and then combined with radiomic features from the three sequences. The following models were established: T1 model, T2 model, DCE model, DCE_T1_T2 model, and DCE_T1_T2_rad model. The performance of the models was evaluated by the area under the receiver operating characteristic (ROC) curve (AUC), accuracy, sensitivity, specificity, positive predictive value, and negative predictive value. The differences between the DCE_T1_T2_rad model and the other four models were compared using the Delong test, with a P-value < 0.05 considered statistically significant. ResultsThe five models established in this study performed well, with AUC values of 0.53 for the T1 model, 0.62 for the T2 model, 0.79 for the DCE model, 0.94 for the DCE_T1_T2 model, and 0.98 for the DCE_T1_T2_rad model. The DCE_T1_T2_rad model showed statistically significant differences (P < 0.05) compared to the other four models. ConclusionThe use of a multi-modal model combining multi-sequence breast MRI fusion radiomics and deep learning can effectively improve the diagnostic performance of breast lesion classification.

Proteogenomic Landscape of Breast Ductal Carcinoma Reveals Tumor Progression Characteristics and Therapeutic Targets.

Multi-omics studies of breast ductal carcinoma (BRDC) have advanced the understanding of the disease's biology and accelerated targeted therapies. However, the temporal order of a series of biological events in the progression of BRDC is still poorly understood. A comprehensive proteogenomic analysis of 224 samples from 168 patients with malignant and benign breast diseases is carried out. Proteogenomic analysis reveals the characteristics of linear multi-step progression of BRDC, such as tumor protein P53 (TP53) mutation-associated estrogen receptor 1 (ESR1) overexpression is involved in the transition from ductal hyperplasia (DH) to ductal carcinoma in situ (DCIS). 6q21 amplification-associated nuclear receptor subfamily 3 group C member 1 (NR3C1) overexpression helps DCIS_Pure (pure DCIS, no histologic evidence of invasion) cells avoid immune destruction. The T-cell lymphoma invasion and metastasis 1, androgen receptor, and aldo-keto reductase family 1 member C1 (TIAM1-AR-AKR1C1) axis promotes cell invasion and migration in DCIS_adjIDC (DCIS regions of invasive cancers). In addition, AKR1C1 is identified as a potential therapeutic target and demonstrated the inhibitory effect of aspirin and dydrogesterone as its inhibitors on tumor cells. The integrative multi-omics analysis helps to understand the progression of BRDC and provides an opportunity to treat BRDC in different stages.

Polygenic risk scores stratify breast cancer risk among women with benign breast disease.

Most breast biopsies are diagnosed as benign breast disease (BBD), with 1.5- to fourfold increased breast cancer (BC) risk. Apart from pathologic diagnoses of atypical hyperplasia, few factors aid in BC risk assessment of these patients. We assessed whether a 313-SNP polygenic risk score (PRS) stratifies risk of BBD patients. We pooled data from five Breast Cancer Association Consortium case-control studies (mean age = 59.9 years), including 6,706 cases and 8,488 controls. Using logistic regression, we estimated BC risk associations by self-reported BBD history and strata of PRS, with median PRS category among women without BBD as the referent. We assessed interactions and mediation of BBD and PRS with BC risk. BBD history was associated with increased BC risk (OR = 1.48, 95% CI: 1.37-1.60; p < .001). PRS increased BC risk, irrespective of BBD history (p-interaction = 0.48), with minimal evidence of mediation of either factor by the other. Women with BBD and PRS in the highest tertile had over 2-fold increased odds of BC (OR = 2.73, 95% CI: 2.41-3.09) and those with BBD and PRS in the lowest tertile experienced reduced BC risk (OR = 0.79, 95% CI: 0.70-0.91), compared to the reference group. Women with BBD and PRS in the highest decile had a 3.7- fold increase (95% CI: 3.00-4.61) compared to those with median PRS without BBD. BC risks are elevated among women with BBD and increase progressively with PRS, suggesting that optimal combinations of these factors may improve risk stratification.

Intraoperative evaluation of tumor margins using a TROP2 near-infrared imaging probe to enable human breast-conserving surgery.

Intraoperative surgical margin assessment remains a challenge during breast-conserving surgery. Here, we report a combined strategy of immuno-positron emission tomography (PET) for preoperative detection of breast cancer and guided assessment of margins in breast-conserving surgery through second near-infrared (NIR-II) fluorescence imaging of trophoblastic cell surface antigen 2 (TROP2). We demonstrated that the intensity of PET signals in the tumors was nearly five times higher than in normal breast tissue with a zirconium-89 tracer conjugated to sacituzumab govitecan (SG) in a mouse spontaneous breast cancer model, enabling the identification of tumors. We further generated a NIR-II probe of indocyanine green conjugated to SG (ICG-SG) and developed a rapid incubation imaging method for intraoperative margin assessment in a relevant time window for the operation workflow. The ICG-SG NIR-II fluorescence image guidance was first verified to remove tumors completely and accurately in mouse breast cancer models. Moreover, the rapid incubation imaging method was applied to distinguish benign and malignant breast lesions in samples from 26 patients with breast cancer. Therefore, we have developed both nuclide and optical probes targeting TROP2 for rapid and precise identification of tumor margins during breast-conserving surgery in humans.

Cytological Evaluation of Palpable Non-Neoplastic Breast Lesions among Women attended from Rural Community of Bangladesh: A Retrospective Cross-Sectional Study

Background: Non-neoplastic palpable breast disease is one of the most common disorders from which women suffer throughout the world. The use of fine-needle aspiration cytology (FNAC) method has proven to be quick, simple and cost-effective with minimum risk of complications in the evaluation of breast lumps. Objective: This study was planned to find out the common causes of various types of non-neoplastic breast lesions of female at different ages through fine needle aspiration cytology. Methodology: The retrospective cross-sectional study was carried out in the Department of Pathology at Monno Medical College&amp; Hospital, Manikganj, Bangladesh. It lasted 2 years 6 months from July 1, 2019 to December 31, 2021. This study examined all breast lumps found in female patients. For data analysis, the patient's age and FNAC report were recorded. Aspirates were done using 5ml/10ml syringe and 23-gauge needle. Smears were stained with Papanicolaou stain. Results: The study included total 349 female patients with breast lesion. Among these, non-neoplastic lesions were 183(52.44%) cases and neoplastic lesions were 166(47.56%) cases. Among the lesions, 105(30.08%) cases were in fibrocystic changes; 28(8.02%) cases were in non-suppurative mastitis; 24(6.87%) cases were in suppurative mastitis (abscess), 14(4.01%) cases were in granulomatous mastitis. About 45(42.88%) cases of Fibrocystic changes, 13(44.84%) cases of non-suppurative mastitis and 9(37.5%) cases of Suppurative mastitis (abscess) were in the age group 21 to 30 years, 21 to 30 years and 41 to 50 years respectively. Conclusion: Fibrocystic changes are the commonest lesion in this study. Journal of Monno Medical College June, 2024; 10 (1):07-12

Multimodal apparent diffusion MRI model in noninvasive evaluation of breast cancer and Ki-67 expression

BackgroundTo assess the capability of multimodal apparent diffusion (MAD) weighted magnetic resonance imaging (MRI) to distinguish between malignant and benign breast lesions, and to predict Ki-67 expression level in breast cancer.MethodsThis retrospective study was conducted with 93 patients who had postoperative pathology-confirmed breast cancer or benign breast lesions. MAD images were acquired using a 3.0 T MRI scanner with 16 b values. The MAD parameters, as flow (fF, DF), unimpeded (fluid) (fUI), hindered (fH, DH, and αH), and restricted (fR, DR), were calculated. The differences of the parameters were compared by Mann–Whitney U test between the benign/malignant lesions and high/low Ki-67 expression level. The diagnostic performance was assessed by the area under the receiver operating characteristic curve (AUC).ResultsThe fR in the malignant lesions was significantly higher than in the benign lesions (P = 0.001), whereas the fUI and DH were found to be significantly lower (P = 0.007 and P < 0.001, respectively). Compared with individual parameter in differentiating malignant from benign breast lesions, the combination parameters of MAD (fR, DH, and fUI) provided the highest AUC (0.851). Of the 73 malignant lesions, 42 (57.5%) were assessed as Ki-67 low expression and 31 (42.5%) were Ki-67 high expression. The Ki-67 high status showed lower DH, higher DF and higher αH (P < 0.05). The combination parameters of DH, DF, and αH provided the highest AUC (0.691) for evaluating Ki-67 expression level.ConclusionsMAD weighted MRI is a useful method for the breast lesions diagnostics and the preoperative prediction of Ki-67 expression level.

Utility of diffusion-weighted imaging in differentiating benign and malignant breast lesions.

Breast cancer presents a significant global health burden. An accurate differentiation between benign and malignant lesions is imperative for timely intervention. While dynamic contrast enhanced MRI (DCE-MRI) is highly sensitive, its specificity is limited. This has led to the exploration of diffusion-weighted imaging (DWI) in distinguishing between benign and malignant breast lesions. The study aimed to explore the diagnostic utility of DWI in distinguishing between benign and malignant breast lesions. Assessment of 38 breast lesions using DWI with a b value of 800 s/mm2, performed with 3 Tesla MRI. The diagnostic performance of two different region of Interest (ROI) placement approaches was compared to obtain a feasible cut-off value of apparent diffusion coefficient (ADC) to differentiate between malignant and benign lesions. The histopathological reports were used as the gold standard. ADC values of malignant lesions were significantly lower than those of benign lesions (0.84 × 10-3 mm2/s vs. 1.54 × 10-3 mm2/s). The average ADC measured using a small-sized 2D ROI including the darkest part in the ADC map, performed better than the large 2D ROI covering the entire lesion. Using a cut-off value of 0.98 × 10-3 mm2/s, ADC obtained high sensitivity (90%) and specificity (88.9%) in distinguishing between benign and malignant breast lesions. Utilising quantitative analysis of DWI with ADC value measurement, reliably distinguished between benign and malignant breast lesions in this cohort, especially when employing a higher b value of 800 s/mm2.

Diffuse correlation tomography: a technique to characterize tissue blood flow abnormalities in benign and malignant breast lesions

Accurate assessment and quantification of neoangiogenesis associated with breast cancer could be potentially used to improve the sensitivity and specificity of non-invasive diagnosis, as well as predict outcomes and monitor treatment effects. In this study, we adapted an emerging technology, namely diffuse correlation tomography (DCT), to image microvascular blood flow in breast tissues and evaluate the potential for discriminating between benign and malignant lesions. A custom-made DCT system was designed for breast blood flow imaging, with both the source-detector array and reconstruction algorithm optimized to ensure precise imaging of breast blood flow. The global features and local features of three-dimensional blood flow images were extracted from the relative blood flow index (rBFI), which was obtained from most of the breasts targeted to the lesion. A total of 37 women with 19 benign and 18 malignant lesions were included in the study. Significant differences between malignant and benign groups were found in 12 image features. Moreover, when selecting the lesion mean relative blood flow index (MrBFI) as a single indicator, the malignant and benign tumors were discriminated with an accuracy of 89.2%. The blood flow features were found to successfully identify malignant and benign tumors, suggesting that DCT, as an alternate functional imaging modality, has the potential to be translated into clinical practice for diagnosis and assessment of breast cancers. There is potential to reduce the need for biopsy of benign lesions by improving the specificity of diagnostic imaging, as well as monitoring response to breast cancer treatment.

12556 Medullary Thyroid Cancer With Persistent Elevation Of Carcinoembryonic Antigen: Case Report

Abstract Disclosure: M.S. Campana: None. Introduction: Medullary thyroid Cancer (MTC) is a rare neuroendocrine tumor that originates from thyroid parafollicular C-cells and represents 5 % of all thyroid cancers. MTC can be sporadic (75%) or hereditary (25%) associated with multiple endocrine neoplasia type 2 syndrome (MEN2). Serum calcitonin (Ctn) and carcinoembryonic antigen (CEA) are its tumor markers. We report a case of persistently elevated CEA levels despite an undetectable Ctn in a patient with MTC after initial thyroid lobectomy. Description of the case: A 42-year-old woman self-identified a neck lump after intentional weight loss. A neck US showed a right lobe thyroid nodule which resulted as suspicious for malignancy (Bethesda V) with subsequent right lobectomy. Pathology reported a 2.6 cm unexpected MTC with negative surgical margins, extrathyroidal extension, angioinvasion, and lymphatic invasion. No cervical lymph nodes (LNs) were removed. Immunohistochemistry was positive for CEA, chromogranin A, synaptophysin, and Ctn. T2 Nx. One month after lobectomy, the Ctn was 10.5 (0-3.0 pg/mL) and CEA 205.2 (0-3.0 ng/mL Non-smoker; 0-5.0 ng/mL smoker). The patient was then referred to our clinic for further management. Laboratories showed normal serum calcium, PTH, and fractionated plasma metanephrine/normetanephrine. A 2-month post-operative Ctn was undetectable, but CEA was elevated at 24.5. Subsequently, we broaden imaging studies to include neck US, CT neck /chest with contrast, and MRI abdomen pelvis with contrast. The only remarkable finding was a 6.7 cm pelvic mass with normal Ca-125. Genetic testing was negative for germline RET, ruling out MEN2. Patient underwent completion left lobectomy with prophylactic bilateral central neck dissection. Pathology showed benign thyroid parenchyma with multinodular hyperplasia and 0/12 LNs. Because of concerning pelvic mass, the patient was referred to OB/GYN. She underwent a laparoscopic bilateral salpingo-oophorectomy. Pathology showed a follicular ovarian cyst, negative for malignancy. A year post-completion total thyroidectomy Ctn remains undetectable, and a CEA is normal at 1.3. Discussion: Because Ctn was already undetectable 1 month after lobectomy with persistent elevated CEA a complete total thyroidectomy with prophylactic bilateral central neck dissection was indicated to achieve operative cure. Ctn is specific to MTC but variable. CEA is more reproducible with less variability; however, it is not specific to MTC and can also be elevated in smokers, benign breast and genitourinary disease, emphysema, cirrhosis, and cancer of colon, rectum, liver, genitourinary, and lung. If residual disease is present, Ctn tends to be proportionally more elevated than CEA. When the opposite occurs, poorly differentiated MTC with possibility of distant metastases vs. a second primary malignancy vs. a distant benign neoplasm known to elevate CEA need to be ruled out. Presentation: 6/2/2024

The value and significance of nucleolar organizer region proteins as markers of malignancy in breast cancer patients.

To assess argyrophilic nucleolar organizer regions (AgNORs) in 60 patients with primary breast carcinoma and evaluated their association with clinical prognostic parameters of breast cancer. Argyrophilic nucleolar organizer regions were stained in paraffin sections of the tissues using Ploton's silver method. For each sample, the number of AgNORs within the nuclei of 100 tumor cells was counted. The average number of AgNORs per nucleus was calculated, and the results were expressed as mean. The number of AgNORs was significantly higher in breast invasive ductal carcinoma (6.6) compared to benign breast tumors (fewer than 2.0). However, differences in AgNOR counts across different age groups were not statistically significant. This study suggests that AgNOR counts could be used as a potential procedure for estimating proliferation characteristics in histopathological sections of benign and malignant breast lesions. Argyrophilic nucleolar organizer region counts may also be valuable for identifying high-risk patients and indicating tumor aggressiveness. A larger study with an increased sample size that incorporates both AgNOR numbers and Ki67 scores for assessing cell kinetics is needed to confirm our findings.

Machine learning-based discrimination of benign and malignant breast lesions on US: The contribution of shear-wave elastography

PurposeTo build and validate a combined radiomics and machine learning (ML) approach using B-mode US and SWE images to differentiate benign from malignant solid breast lesions (BLs) and compare its performance with that of an expert radiologist. MethodsPatients with at least one BI-RADS 2–6 BL who performed breast US integrated with SWE were retrospectively included. B-mode US and SWE images were manually segmented to extract radiomics features. A multi-step feature selection process was performed and a predictive model built using the Logistic Regression algorithm. The diagnostic accuracy was evaluated with the AUC and Matthews Correlation Coefficient (MCC) metrics. The performance of the ML classifier was compared to that of an expert radiologist. Results427 Bls were included and divided into a training (286 BLs, of which 127 benign and 159 malignant) and a test set (141 BLs, of which 59 benign and 82 malignant). Of 1098 features extracted from B-mode US and SWE images, 13 were finally selected. The ML classifier showed an AUC of 0.768 and 0.746, and an MCC of 0.403 and 0.423 in the training and test sets, respectively. The performance was higher than that of the expert radiologist assessing only B-mode US images, but significantly lower when SWE images were also provided. ConclusionA ML approach based on B-mode US and SWE images may represent a potential tool in the characterization of BLs. SWE still gives its most relevant contribution in the clinical setting rather than included in a radiomics pipeline.

Accuracy of distinguishing benign, high-risk lesions and malignancies with inductive machine learning models in BIRADS 4 and BIRADS 5 lesions on breast MR examinations

Rationale and ObjectivesThe aim of this study is to explore the utility of Inductive Decision Tree models (IDTs) in distinguishing between benign, malignant, and high-risk (B3) breast lesions. Materials and MethodsWe analyzed 124 histologically confirmed lesions in 114 patients who underwent breast MR with BI-RADS 4 or 5 assessment. The dataset comprised 10 imaging parameters and one clinical observation. Using the IDTs method (algorithm C5.0) combined with the data balancing method SMOTE (Synthetic Minority Oversampling Technique) and a corresponding new method called LCC (Leveling of Cases per Class), we developed corresponding 3-class classification models (Benign, B3, or Malignant). The training set used for classification model development consists of 112 cases with 11 variables, and the model’s performance was assessed using 10-fold Cross-Validation and Leave One Out methods (utilizing the training set) and the Use Test Set method (testing on an unknown (for the models) dataset of 12 cases with 12 variables). ResultsThis preliminary study demonstrates the potential for IDTs to accurately distinguish between benign, B3 and Malignant lesions based on extracted data from breast MRI exams with a high classification accuracy (88.70%), mean sensitivity of 97.18% and specificity of 98.59% achieved by the optimal classification model, derived from the combination of the IDTs method and the LCC data balancing method. ConclusionThe present study represents a pioneering approach for three-category classification of breast lesions in MRI images using Artificial Intelligence (AI) which can be utilized as second-opinion tool in daily clinical practice by radiologists.

Interleukin-33 Levels are Up-Regulated in Women with Breast Cancer and Shown to be Associated with the Triple-Negative Type

Breast cancer (BC) is a diverse disease with heterogeneous subgroups in pathophysiology and behavior. Recent advances in biomarker-based therapy may help improve treatment options for BC. Thus, this study aimed to assess the role of interleukin (IL)-31 and IL-33 as biomarkers associated with BC risk. Serum concentrations of IL-31 and IL-33 were quantified in women with BC (n = 77), women with benign breast lesion (BBL; n = 51), and healthy women (n = 75), using enzyme-linked immunosorbent assay kits. Compared with BBL or healthy women, IL-33 concentrations were significantly greater in BC patients and were associated with a 1.33-fold increased risk of disease and had excellent prognostic value in BC (area under the curve = 0.89). In addition, IL-33 expression was linked to triple-negative BC, distant metastasis, Tumor-Node-Metastasis (TNM) stage, status of estrogen and progesterone receptors, and human epidermal growth factor receptor 2. IL-31 concentrations showed no significant differences between BC, BBL, and healthy women, but were greater in patients with distant metastasis and those who were negative for estrogen and progesterone receptors. In conclusion, IL-33 and to a lesser extent IL-31 can be used as biomarkers associated with BC risk and to identify patients with a poor prognosis especially those with triple-negative BC. Furthermore, understanding the connection between IL-33 and BC progression may aid in the development of safe and effective therapy.