Breast Disease Research Articles

Enhancing disease risk gene discovery by integrating transcription factor-linked trans-variants into transcriptome-wide association analyses

Abstract Transcriptome-wide association studies (TWAS) have been successful in identifying disease susceptibility genes by integrating cis-variants predicted gene expression with genome-wide association studies (GWAS) data. However, trans-variants for predicting gene expression remain largely unexplored. Here, we introduce transTF-TWAS, which incorporates transcription factor (TF)-linked trans-variants to enhance model building for TF downstream target genes. Using data from the Genotype-Tissue Expression project, we predict gene expression and alternative splicing and applied these prediction models to large GWAS datasets for breast, prostate, lung cancers and other diseases. We demonstrate that transTF-TWAS outperforms other existing TWAS approaches in both constructing gene expression prediction models and identifying disease-associated genes, as shown by simulations and real data analysis. Our transTF-TWAS approach significantly contributes to the discovery of disease risk genes. Findings from this study shed new light on several genetically driven key TF regulators and their associated TF–gene regulatory networks underlying disease susceptibility.

Society of Surgical Oncology Breast Disease Site Working Group Statement on Bilateral Risk-Reducing Mastectomy: Indications, Outcomes, and Risks

Society of Surgical Oncology Breast Disease Site Working Group Statement on Bilateral Risk-Reducing Mastectomy: Indications, Outcomes, and Risks

The Potential Health Risks and Benefits of Progesterone in the Transgender Woman Population—A Narrative Review

Introduction: Currently, progesterone is notably absent from conventional feminizing hormone therapies for transgender women. Anecdotal reports indicate the potential for health advantages following the incorporation of progesterone into treatment regimens. The primarily female hormone, progesterone naturally surges in women during the menstrual luteal phase. When administered exogenously, it may expedite bodily changes that are pivotal for gender transition. Progesterone holds promise as a potential remedy for various health conditions prevalent in the transgender woman population. Methods: This narrative review synthesizes existing literature and presents a comprehensive account of the administration of exogenous progesterone in transgender women. A literature search was conducted using the PubMed, Embase, ScienceDirect, and ResearchGate databases. The following keywords were used in the search: progesterone, transgender, breast neoplasms, lactation, prostate, testicular neoplasms, and thrombosis. These terms were combined using Boolean operators. The results of the initial search were screened by three independent reviewers based on their relevance to the topic under study. Results: A total of 104 studies were initially identified as meeting the criteria for inclusion. Following an assessment based on the contents of the title, abstract, and full text, 39 studies were deemed eligible for inclusion. A critical examination of health outcomes was conducted across key sections, including breast development, mental health, lactation, cancer risk (breast and prostate), thrombosis, and nervous and other systems. Discussion: The use of progesterone in the transgender woman population is a topic that has yet to be sufficiently researched. The limited sample size, short follow-up periods, and lack of randomization restrict the potential for achieving a robust scientific evidence base. In order to gain a fuller understanding of this topic, findings from studies on contraception, hormone replacement therapy, and animal models were considered. Conclusions: Progesterone may have a beneficial effect on the bodies of transgender women without significant adverse health effects. Further investigation through well-designed studies is recommended. Randomized controlled trials that include various dosages, broad and long-term effects, and precise demographics are needed. There is an immediate need for more knowledge to create appropriate patent and clinical practice guidelines.

Granulomatous mastitis forming a well-defined large mass diagnosed by surgical excision: a case report

BackgroundGranulomatous mastitis is a relatively rare benign inflammatory disease of the breast, but it is sometimes difficult to distinguish from breast cancer by imaging. We experienced a case that was definitively diagnosed as granulomatous mastitis from the surgical specimen. The mass appeared as a large cystic lesion on imaging, which is unusual for granulomatous mastitis, and was initially suspected to be an encapsulated papillary carcinoma.Case presentationA 43-year-old woman presented with a painful mass in her right breast. Ultrasonography revealed a cystic mass lesion with internal solid components, with partially indistinct cyst walls and abundant blood flow. Additionally, lymphadenopathy of one axillary lymph node was observed. Magnetic resonance imaging findings showed irregularly spreading enhanced nodules within the cystic lesion, raising the suspicion of encapsulated papillary carcinoma. Although the histological findings from a needle biopsy were consistent with granulomatous mastitis, the possibility of malignancy could not be ruled out based on imaging, prompting a diagnostic probe lumpectomy. However, the surgical specimens did not reveal any tumorous lesions, and we reached a final diagnosis of granulomatous mastitis. Postoperatively, the patient was followed-up without steroid therapy and has been free from recurrence of mastitis for 22 months after surgery.ConclusionsWe report a case of granulomatous mastitis that was detected as a large cystic lesion with a well-defined border on imaging and a definitive diagnosis was made from a surgical specimen.

Paget Disease of the Breast: An Uncommon Case Report

Paget’s breast disease is a rare malignancy with an incidence of 0.7% to 4.3% among all primary breast cancer. It’s characterized by an eczemous and ulcerative lesion of the nipple area. It’s associated up to 90% to an underlying invasive carcinoma or carcinoma in situ. Upon every cutaneous lesion matching the description above in women in their fifth or sixth decade, a punch biopsy should be performed. Imaging investigations rely on mammography, breast ultrasound and most importantly on Magnetic resolution imaging (MRI). Treatment management offers a wide array of options ranging from total mastectomy with sentinel node biopsy to non-surgical and non-invasive therapy. We present the uncommon case of a 49 years old female presented to our facility with Paget breast disease treated by breast conserving surgery.

Culture, community, and cancer: understandings of breast cancer from a non-lived experience among women living in Soweto

BackgroundIndividual perceptions, socio-cultural beliefs and health system factors are key determinants of people’s health seeking behavior and are widely cited as the causes of delayed breast cancer diagnosis among women from structurally vulnerable settings. Asking: “how do women with a non-lived experience of cancer understand the disease and, what informs their health seeking behaviors?”, we qualitatively explored, individual, sociocultural and health system elements from a conceptual model derived from the Socioecological, Health Belief and Cancer Stigma Frameworks, to understand perspectives of breast cancer in a South African urban community setting.MethodsUsing a deductive approach and allowing new themes to emerge inductively, we investigated phenomenologically, breast cancer perceptions among 34 women from Soweto, Johannesburg (aged 35–74 years) in 6 Focus Group Discussions. We then conducted 20 follow-up semi-structured in-depth interviews to explore novel themes and suggestions for increasing breast cancer screening.ResultsFindings revealed some awareness of breast and other cancers, but confusion and gaps in understanding of the disease, resulting in socio-culturally influenced misperceptions of risks, causes, and outcomes following treatment of breast cancer. This fueled perceptions of profound fear and stigma against people with breast and other cancers. These findings together with participant perceptions of primary healthcare providers being unwelcoming, under-resourced, and insufficiently trained to deal with breast cancer, resulted in women reporting being reluctant to participating in screening/early detection care seeking behavior. Women only accessed primary care when experiencing extreme pain or ill-health. Participants suggested as solutions for future interventions, the need for sustained community engagement, harnessing existing clinic and community stakeholders and resources to provide clear and understandable breast cancer information and encouragement for screening uptake.ConclusionsHealth literacy gaps surrounding breast cancer fuels socio-culturally influenced misperceptions, fear, stigma, and fatalism among women from Soweto. Women perceive primary care providers of having insufficient knowledge, skills, and resources to provide effective breast cancer screening services. Participants suggested the need for greater community engagement involving primary clinics and existing community stakeholders working collaboratively. Clear, understandable, and consistent information about breast cancer must be regularly disseminated and communities must be regularly encouraged to utilize breast cancer screening services.

Breast Tuberculosis: A Case Report

Mammary tuberculosis is a rare condition. Early diagnosis is often difficult. Mammary tuberculosis simulates other much more common breast diseases, in particular cancer in older women, and can only be diagnosed definitively by histopathological examination in the presence of epithelio-giganto-cellular granulomas with caseous necrosis. We report a case of mammary tuberculosis in a 42-year-old woman to raise the problem of diagnosis.

Permutation Test for Image-on-Scalar Regression With an Application to Breast Cancer.

Image based screening is now routinely available for early detection of cancer and other diseases. Quantitative analysis for effects of risk factors on digital images is important to extract biological insights for modifiable factors in prevention studies and understand pathways for targets in preventive drugs. However, current approaches are restricted to summary measures within the image with the assumption that all relevant features needed to characterize an image can be identified and appropriately quantified. Motivated by data challenges in breast cancer, we propose a nonparametric statistical framework for risk factor screening that uses the whole mammogram image as outcome. The proposed permutation test allows assessment of whether a set of scalar risk factors is associated with the whole image in the presence of correlated residuals across the spatial domain. We provide extensive simulation studies and illustrate an application to the Joanne Knight Breast Health Cohort using the mammogram imaging data.

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.

Disease recurrence in patients undergoing mastectomy for ductal carcinoma in situ.

With DCIS incidence on the rise, up to 30% of patients undergo mastectomy for Ductal carcinoma in situ (DCIS) (Nash and Hwang, in: Ann Surg Oncol 30(6):3206-3214, 2023). Local recurrence rates after mastectomy for DCIS are reportedly low, but risk factors for recurrence are not known (Kim et al., in: J Cancer Res Ther 16(6):1197-1202, 2020). We aim to define risk factors associated with ipsilateral breast cancer recurrence in patients undergoing mastectomy for DCIS. We aimed to identify risk factors that may contribute to recurrence of breast cancer following mastectomy for pure DCIS. We hypothesized that close or positive mastectomy margins, age at diagnosis, extent of breast disease and mutation carriers would be associated with increased risk of recurrence. We performed a retrospective chart review of patients who underwent unilateral or bilateral mastectomies for pure DCIS at a single academic tertiary referral center from 2013 to 2023. There were 165 patients who met inclusion criteria with an average length of follow-up of 39.9months. On final surgical pathology, the average span of DCIS was 33.7mm (± 24.6mm). Hormone receptor positive disease was identified in 80.6% of the patient cohort. For margin status, 23 patients (14%) had < 1mm margins on final pathology and of those, 1 received adjuvant radiation therapy and 4 returned to the OR for re-excision. Only 1 (0.6%) patient had ipsilateral disease recurrence during the study period. Recurrence after mastectomy for pure DCIS is a rare event and in our study sample, only one recurrence occurred. Risk factors for recurrence appear unrelated to margin status, age, extent of DCIS, or pathogenic mutation (ElSherif et al., in Am J Surg 226(5):646-651, 2023).

Assessment of knowledge, attitude, practice and barriers of exclusive breastfeeding among nursing mothers in Makurdi Local Government Area of Benue State

Introduction: Over the years, breastfeeding has been a universal means of feeding infants and a common feature of all cultures since the survival of mankind. It is a phenomenon that is deeply rooted in the tradition of human culture. Although, breastfeeding practices have fluctuated over the years, it is widely regarded as an unequalled way of providing ideal nutrition for the healthy growth and development of infants. This study aims to assess the knowledge, attitude, practice and some barriers of exclusive breastfeeding among nursing mothers in Makurdi Local Government Area of Benue State. Method: This is a descriptive cross-sectional study to assess the knowledge, attitude, practice and barriers of nursing mothers towards Exclusive Breast Feeding (EBF). An interviewer-self-administered pretested questionnaire was used to collect data on maternal knowledge, Attitude, Practice and barriers of EBF. The modified Blooms criteria was adapted to grade knowledge, attitude and practice as either Good or poor. Statistical significance was considered at 95% confidence interval. Results: The results from this study showed that nursing Mother’s knowledge of EBF was good, 84.0% of the respondents displayed good knowledge of EBF, good attitude towards EBF was at 54.7% and the practice of EBF was 67.3%. Notable barriers to EBF includes, poor knowledge of EBF among nursing mothers (75.0%), followed by concurrent breast disease 6 months post-natal (66.7%), next was women who have never attended Antenatal Care Clinic (ANC) 62.5%. Conclusion: These findings suggest good knowledge and practice of EBF, however there is need to institute intervening measures aimed at reducing barriers associated with EBF in the study community.

Myoid Hamartoma of the Breast With HMGA2 Rearrangement and Associated In-Situ and Invasive Carcinoma: Case Report and Review of Literature.

Myoid hamartoma of the breast is an uncommon benign breast neoplasm. We describe an unusual example of an in-situ and invasive carcinoma arising in a myoid hamartoma. We also describe the unique molecular findings in the myoid hamartoma and review the pertinent literature. In radiology studies, the mammogram showed increased density/attenuation, and the ultrasound revealed a change in the overall echogenicity with hyperechoic and anechoic areas. The stromal compartment contained smooth muscle bundles and adipose tissue on microscopic examination. The stromal cells showed HMGA2 gene rearrangement by fluorescence in-situ hybridization analysis and overexpression of HMGA2 by immunohistochemistry. The breast myoid hamartoma is likely underpinned by HMGA2 gene rearrangement and HMGA2 protein overexpression, which can be used as an ancillary test to diagnose this rare breast lesion. Although most myoid hamartomas have a benign clinical course, the likelihood of malignant transformation should always be considered.

"Artificial intelligence Reading Digital Mammogram: Enhancing Detection and Differentiation of Suspicious Microcalcifications".

To investigate the impact of artificial intelligence (AI) on enhancing the sensitivity of digital mammograms in the detection and specification of grouped microcalcifications. The study is a retrospective analysis of grouped microcalcifications for 447 patients. Grouped microcalcifications detected were correlated with AI, which was applied to the initial mammograms. AI provided a heat map, demarcation, and quantitative evaluation for abnormalities according to the degree of suspicion of malignancy. Histopathology was the standard for confirmation of malignancy. AI showed a high correlation percentage of 67.5% between the red color of the color hue bar and malignant microcalcifications (p value <0.001). The scoring of probable cancer was suggested (ie, more than 50% abnormality scoring) in 39.5% of true cancer lesions. The diagnostic performance of mammography for grouped microcalcifications revealed a sensitivity of 94.7% and a negative predictive value of 82.1%. False negatives were only 12 out of 228 that proved malignant calcifications. The agreement of cancer probability between standard mammograms and examinations read by AI presented a Kappa value of -0.094 and a p value of < 0.001. The used AI system enhanced the sensitivity of mammograms in detecting suspicious microcalcifications, yet an expert human reader is required for proper specification. Grouped calcifications could be early breast cancer on a mammogram. The morphology and distribution are correlated with the nature of breast diseases. AI is a potential decision support for the detection and classification of grouped microcalcifications and thus positively affects the control of breast cancer.

Clinical and cytological characteristics of malignant pericardial effusion and estimation of the rate of progression until its evacuation by pericardiocentesis

Abstract Introduction Pericardial effusion (PE) is a complication of neoplastic processes that worsens the prognosis and can lead to symptomatic presentations requiring pericardiocentesis (PC). There is limited literature regarding the evolution of PE from its onset to the need for PC, characteristics of these patients, progression rate of PE, and potential accelerating factors. Purpose This study aims to: i) Analyze the baseline characteristics of patients undergoing PC; ii) Evaluate the correlation between PE appearance and cytology; iii) Analyze the progression rate until PC performance. Methods This retrospective observational study includes patients with active neoplasia and significant symptomatic PE treated with PC at our hospital from 01/01/2010 to 06/30/23, with subsequent follow-up until 10/31/23. Clinical characteristics related to neoplastic processes and PE diagnosis were analyzed, including PE appearance, cytology, and computed tomography scans performed as neoplasia follow-up prior to PC. Results A total of 75 patients were included, with 6 excluded because of non-malignant conditions (2 acute pericarditis-related PE, 3 purulent PE, and 1 chylous PE). The remaining 69 patients had a median age of 59 years, with 55.1% being male. Lung neoplasm was most frequent (63.8%, with 84% adenocarcinoma), followed by lymphomas/lymphoid leukemia (7.3%), upper digestive tract (7.3%), and breast cancer (7.3%). 52.2% of PEs undergoing PC were diagnosed simultaneously with neoplasm (70.45% associated with pulmonary neoplasms); 43.5% had ECOG 1, and 89.9% had metastases (excluding PE) at PC. Cardiac tamponade was present in 27.5%, with percutaneous pericardiostomy added in 21.7%. PE appearance was sero-haematic in 49.3%, haematic in 36.2%, and serous in 14.5%. Cytology showed mostly positive results (69.2%: 50% in serous PE and 71.93% in haematic/sero-haematic PE). The median time from the last CT scan prior to PE to PC was 5 months (160 days, range: 24-943 days). PC recurrence was observed in 30.4% of cases. Follow-up mortality was 82.6%, higher in breast, renal, digestive, thymoma, and genital neoplasms (100%), with hematological neoplasms having the lowest mortality (40%), followed by pulmonary neoplasms (79.5%). Mortality was higher in patients with more lines of treatment at PC and with a higher number of metastases. The median time from PC to death was 2 months (68.5 days, range: 1 day-2007 days). Conclusions The most common neoplastic PE was associated with lung adenocarcinoma, though a variety of neoplasms were observed. Half of PEs were diagnosed concurrently with neoplasm diagnosis. Cytology sensitivity was not high, and PE appearance did not adequately predict outcomes. The median time from the last CT scan prior to PE to PC was 5 months, potentially guiding echocardiographic follow-up once PE is observed on CT. Overall mortality was high (82.6%), except for onco-hematological PE.Iconographic summary of malignant PE

How social and commercial determinants influence exclusive breastfeeding in the Philippines

Abstract Background The World Health Organization recommends exclusive breastfeeding (EBF) for the first six months after delivery. However, the EBF rate in the Philippines is only 29%. Existing literature suggests that the influence of infant formula marketing (IFM), communication channels, and traditional health beliefs are possible contributors to low EBF rates, but rare studies have been conducted in low-resource settings. Methods: To bridge the gap, 15 barangays in Palawan were selected; 97 interviews were conducted with lactating mothers (LM), health workers (HW), traditional healers, infant formula sellers, and community leaders (CL) to represent different perspectives. The results were coded and analyzed inductively. Results LM received EBF information through multiple resources. Poverty, lacking breast milk (BM), EBF education, and health benefits (HB) to infants are top contributors to EBF while maternal employment and no BM are top barriers to EBF. Elders, traditional health beliefs (THB), and the influence of COVID-19 can influence EBF in both directions. LM emphasized more on poverty and elders to EBF while HW and CL emphasized the role of EBF education and HB. Urban LM tend to have more regular EBF education, use pumps when going out, and are more influenced by IFM. LM in remote areas tend to have more THB, have more BM substitutes, and share BM. Social classes, locations, Indigeneity, migration, and poverty are intersectioned to influence EBF. Conclusions Multiple social and commercial determinants influenced EBF. LM is facing more challenges to EBF under globalization and capitalism. Remote LM are less benefited from new technologies and policies to promote EBF. Different stakeholders have echo chambers to perceive the determinants of EBF. To improve health equity and EBF, the situations of marginalized people in remote areas should be more considered in policy making. Community building should also be considered differently to assist in EBF. Key messages • The project focuses on social and commercial determinants of exclusive breastfeeding with people in extreme poverty. • The project includes plenty of Indigenous breastfeeding behavior that are underreported.

Breast implant illness in women with implant-based reconstruction after breast cancer

Abstract Background This study investigated the association between silicone breast implants and health symptoms (Breast Implant Illness (BII)) in women with implant-based breast reconstruction after breast cancer. While there is increasing evidence of an association with BII in cosmetic breast augmentation cases, for women with implant-based breast reconstruction this is unknown. Methods Retrospective cohort study of 254 women who underwent implant-based reconstruction after breast cancer and a control group of 487 women who underwent breast-conserving therapy or simple mastectomy. We linked Dutch Breast Implant Registry data (2015-2019) and general practice electronic health records data (2014-2022) to study the occurrence of thirteen BII-related health symptoms in general practice and the number of consultations for these symptoms one year before to three years after breast surgery. Results Over the three years following implantation, no significant differences in symptom occurrence were observed compared to both the year before implantation and the control group. Women with breast implants did not have more consultations compared to the control group during follow-up. However, there was an increased likelihood of multiple consultations in the first and second years post-implantation compared to before implantation (≥3 consultations first year OR = 2.10, p = 0.005; second year OR = 1.70, p = 0.048; ≥5 consultations first year OR = 2.57, p = 0.02). Conclusions This study found no evidence for BII in women with implant-based reconstruction after breast cancer. Despite certain limitations in examining BII in this specific patient group, these findings add valuable information to the decision-making process of breast cancer patients considering reconstructive options. Key messages • This is the first study on BII that focused solely on women with breast implants for reconstruction after breast cancer. • No evidence of BII was found in this patient group.

An observational study on the efficacy of intralesional steroids in patients with idiopathic granulomatous lobular mastitis in a tertiary care centre

Background: Granulomatous lobular mastitis (GLM) is a rare benign disease of the breast which usually affects young women of childbearing age. The patients usually present with a painful breast mass or with multiple discharging sinuses of breast. Diagnosis is usually established by means of clinical examination followed by radiological, microbiological and histopathological evaluation. The ideal management of patients with GLM is still a matter of debate and treatment modalities such as surgery, systemic and intra-lesional steroids, as well as immunosuppressive agents are being used in clinical practice. In our study, we assessed the clinical response of patients with GLM, treated with intra-lesional steroid injection. Methods: In this prospective observational study, from December 2021 to December 2023, a total of 29 patients who were diagnosed as having GLM and who opted for intra-lesional steroid therapy as the solo treatment, were enrolled. After obtaining informed consent, intra-lesional steroid injection was administered in all the 29 patients. The treatment response was assessed after a period of 3 months from the date of injection. Results: A complete resolution of symptoms and signs was found in majority of the patients (75.9%), 4 (13.8%) had a partial resolution and 2 (6.9%) had persistence of symptoms. One patient (3.4%) was lost to follow up. None had any worsening of symptoms. Conclusions: Intra-lesional steroid can be effectively used in the treatment of GLM and this modality can be completed in a few minutes in an Outpatient setting and is extremely cost effective.

Contrast Enhancement in Breast Cancer: Magnetic Resonance vs. Mammography: A 10-Year Systematic Review

PURPOSE: Contrast Enhancement Magnetic Resonance (CEMR) and Contrast-Enhanced Mammography (CEM) are important diagnostic tools to evaluate breast cancer patients, and both are objects of interest in the literature. The purpose of this systematic review was to select publications from the last ten years in order to evaluate the literature contributions related to the frequency of contrast agents used, administration techniques and the presence of adverse reactions. METHODS: We have selected, according to the PRISMA statement, publications reviewed on Pub Med in the period from 1 January 2012 to 31 December 2022. The search engine was activated using the following keywords: “CESM”, “CEM”, “CEDM”, “Contrast mammography” for CEM, “DCE-MRI”, “Contrast Enhancement MRI” for CEMR, excluding reviews, book chapters and meta-analyses. From the total number of publications, we made a preliminary selection based on titles and abstracts and excluded all articles published in languages other than English and all experimental studies performed on surgical specimen or animal population, as well as all articles for which the extended version was not available. Two readers evaluated all the articles and compiled a pre-compiled form accordingly. RESULTS: After a preliminary collection of 571 CEM publications, 118 articles were selected, relating to an overall population of 21,178 patients. From a total of 3063 CEMR publications, 356 articles relating to an overall population of 45,649 patients were selected. The most used contrast agents are Iohexol for CEM (39.83%) and Gadopentetic acid (Gd-DTPA) for CEMR (32.5%). Regarding the CEM contrast administration protocol, in 84.7% of cases a dose of 1.5 mL/kg was used with an infusion rate of 2–3 mL/s. Regarding the CEMR infusion protocol, in 71% of cases a dose of 1 mmol/kg was used at an infusion rate of 2–4 mL/s. Twelve out of 118 CEM articles reported allergic reactions, involving 29 patients (0.13%). In DCE-MRI, only one out of 356 articles reported allergic reactions, involving two patients (0.004%). No severe reactions were observed in either cohort of exams. CONCLUSIONS: CEM and CEMR are essential contrast methods to evaluate breast diseases. However, from the literature analysis, although there are preferences on the uses of the contrast agent (Iohexol for CESM, G-DTPA for CEMR), a wide range of molecules are still used in contrast methods, with different administration protocols. Based on the collected data, it is possible to state that both methods are safe, and no severe reactions were observed in our evaluation.

IgG4-related Breast Disease: Review of the Literature.

IgG4-related disease (IgG4-RD) is a rare illness with inflammatory and fibrotic changes in affected organs such as pancreas, thyroid, salivary or lacrimal glands, and retroperitoneal space; rarely other organs may be involved. IgG4-related breast disease (IgG4-BD) is very rare and generally presents as a lump or mastitis. IgG4-BD as a presenting feature of IgG4-RD is extremely rare. Hence, this paper reviews the known (n=48) IgG-BD cases reported in the literature to date. The majority of cases were diagnosed on routine mammography or during assessment for other clinically significant features. The absence of a lump border, and especially the absence of calcifications on ultrasonography, mammography, or computed tomography, is typical for IgG4-BD. Characteristic IgG4-BD pathological findings were dense lymphoplasmacytic infiltration with stromal fibrosis, and more than 10% IgG4+ plasma cells/high-power field (HPF); the mean percentage of IgG4+/IgG+ plasma cells was 54.2%, and only one-third of the patients had all "classical" signs of IgG4-BD including storiform fibrosis and obliterative phlebitis. Most of the cases had a benign course and responded to surgical excision with or without steroid therapy.