Translational breast cancer research : a journal focusing on translational research in breast cancer最新文献

Transgender individuals represent a growing and very heterogeneous population, yet there are no precise estimates of their breast cancer risk and equitable breast cancer screening guidelines. They have lower rates of healthcare utilization and face disproportionate discrimination in comparison to cisgender individuals. Unfortunately, most national databases continue to report binary gender. Gender affirming hormone therapy (GAHT), surgical history, and psychosocial factors may complicate risk stratification and breast cancer screening decisions. Those with genetic predisposition to cancer, specifically breast cancer susceptibility genes like BRCA1 and BRCA2, face yet another challenge in terms of counselling and screening, given they constitute a rare subgroup. While BRCA pathogenic variants significantly elevate lifetime breast cancer risk in cisgender individuals, evidence-based guidelines for transgender people-specifically those undergoing GAHT or surgical interventions-remain limited. Hence, transgender individuals need to consider a cancer risk assessment before proceeding with gender affirming medical and surgical treatments if they also harbor a breast cancer susceptibility gene. This review article highlights the role of gender affirming treatment and its implications for breast cancer and the recommended optimal screening in transgender individuals with breast cancer susceptibility genes. We emphasize the need for individualized, culturally competent care and advocate for inclusive clinical guidelines accounting for genetic risk as well as gender identity.

The role of axillary surgery in the management of breast cancer continues to evolve as our understanding of breast cancer biology improves, coupled with an increasing availability and efficacy of systemic therapy options. In the current context, the main goal of axillary surgery is staging. In this review, we discuss the role of axillary surgery in patients receiving neoadjuvant systemic therapy and appraise the current state of de-escalation of axillary interventions. We argue that accuracy of limited axillary staging procedure is important, not so much from axillary control point of view but from the systemic undertreatment point of view. We suggest that comparative evaluation of different limited axillary staging procedures from oncological safety perspective should therefore not be based on local axillary control endpoint. We discuss the comparative diagnostic accuracy of sentinel lymph node biopsy (SLNB) vs. targeted axillary dissection (TAD). SLNB does not meet the level of accuracy needed for safe de-escalation in node-positive patients, particularly true de-escalation of axillary intervention, where the omission of completion axillary lymph node dissection (ALND) is not replaced with axillary radiotherapy. We discuss the arguments against the use of intraoperative assessment of lymph nodes in this context. We identify the areas of unmet research need, these include developing tools to predict residual axillary nodal burden in patients with incomplete nodal response, and true de-escalation studies in this patient population, especially those who will receive extended or modified adjuvant treatment. We also underscore the urgent need for research in patients with locally advanced breast cancer (LABC) with an emphasis on tumour biology paradigm.

Background and objective: In 2023, the World Health Organization (WHO) launched the Global Breast Cancer Initiative (GBCI) framework to achieve a 2.5% reduction in annual breast cancer mortality through its three key performance indicators of early screening, timely breast diagnosis, and comprehensive treatment management. National cancer registries serve as a vital tool for implementing the GBCI framework, providing a robust mechanism to track progress, evaluate outcomes, and ensure accountability in its execution. The objective of this study was to evaluate the status of cancer registries in West Africa as a marker for the region's preparedness to implement the GBCI framework.

Methods: This narrative review searched for published literature in PubMed, international health and conference websites, and world population data sources using our search keywords to identify the status of cancer registries in West Africa. Published literature on Ghana's journey towards registry development was additionally utilized to develop a descriptive case analysis of the barriers and facilitators of registry development within the region.

Key content and findings: The only countries possessing a national registry in West Africa are Cape Verde and the Republic of Gambia. Benin, Burkina Faso, Cote d'Ivoire, Ghana, Guinea, Mali, Niger, and Nigeria possess sub-national registries, namely hospital-based and population-based registries with minimal catchment areas. In Ghana, the Kumasi Cancer Registry represents the country's only population-based registry. Partnerships with international organizations and participation in regional capacity building efforts have facilitated its maintenance of operations in cancer continuous data collection. Despite this, barriers to its expansion have included limited funding, challenges with data linkage across data collection sites, and a lack of an automatized electronic data collection system for cancer cases.

Conclusions: Implementation of the GBCI framework crucially depends on routinely collected cancer data covering a country's entire population, highlighting the importance of national cancer registries. To date, all countries in West Africa, except two, lack national cancer registries and face barriers to implementation, including limited mortality data access, low funds, and difficulties with data linkage, as highlighted by the case study of Ghana. Future work should be dedicated towards (I) automatizing and standardizing the data collection systems among sub-national registries and (II) pursuing structured regional capacity-building training on robust cancer registration practices within West Africa.

Background and objective: Physical activity is widely acknowledged as a cornerstone in enhancing the quality of life and recovery outcomes in breast cancer survivors (BCSs). Despite robust guidelines emphasizing a multimodal approach combining aerobic, resistance, flexibility, and balance exercises, adherence to exercise prescriptions remains suboptimal. This narrative review aims to explore the effects of non-commonly prescribed physical exercises, disciplines, and sports to broaden options and improve adherence among BCS.

Methods: A comprehensive literature search was conducted in databases including PubMed, Scopus, Web of Science, and CINAHL, focusing on non-conventional physical exercises, disciplines, and sports published between January 2013 and November 2024. At the end of the screening phase, out of the initial 54,872 records, 27 studies were selected for inclusion in this narrative review. These studies examined dance-based exercises, functional training, horseback riding, water-based activities, dragon boating, fencing, rowing, and sailing, and were published between January 1, 2013, and November 10, 2024.

Key content and findings: Non-commonly prescribed physical exercises, disciplines, and sports demonstrated substantial benefits for BCSs, including reductions in anxiety, depression, fatigue, and lymphedema-related symptoms, alongside improvements in physical function, body image, and quality of life. Dance-based therapies and horseback riding enhanced psychophysical well-being through social and emotional engagement. Water-based and functional training improved muscle strength and flexibility with minimal adverse effects. Dragon boating, rowing, and fencing offered significant cardiovascular and musculoskeletal benefits, promoting endurance and lymphatic health. However, accessibility, customization, and proper supervision emerged as critical challenges limiting broader implementation.

Conclusions: Expanding exercise prescriptions to include non-traditional physical exercises, disciplines, and sports can address monotony, improve adherence, and cater to the diverse preferences of BCSs. A multidisciplinary approach involving oncologists, kinesiologists, and exercise specialists is vital to ensure safety and effectiveness. Tailored, patient-centered programs leveraging these alternative modalities may optimize outcomes and enhance the long-term well-being of BCSs.

Background: Large language models (LLMs), such as ChatGPT have revolutionised patient education by offering accessible, reasonable, and empathetic guidance. This study evaluates ChatGPT's role in supporting patient inquiries regarding four key plastic surgery procedures: mastopexy, breast augmentation, breast reduction, and breast reconstruction. The study highlights its potential as a supplemental tool in patient education by assessing its performance across relevance, accuracy, clarity, and empathy criteria.

Methods: The study collected frequently asked questions from patients about the selected procedures during pre- and post-operative consultations. Responses were generated by ChatGPT and evaluated by a panel of Plastic Surgery experts. Scores from 1 to 5 were assigned to four criteria: relevance, accuracy, clarity, and empathy. Statistical analyses, including means, standard deviations, and Kruskal-Wallis tests, were conducted to evaluate differences in the scores assigned to responses across criteria and procedures.

Results: ChatGPT demonstrated high performance across all evaluation criteria, with clarity emerging as the strongest attribute, reflecting the model's ability to simplify complex medical concepts effectively. Accuracy, while slightly lower, remained reliable, aligning well with medical standards. Among the procedures, breast reconstruction appeared to perform particularly well, followed closely by mastopexy and breast augmentation. The analysis revealed no significant differences across the criteria, indicating consistent performance.

Conclusions: ChatGPT demonstrated remarkable capability in addressing patient concerns and offering clear, empathetic, and relevant responses. However, limitations include the lack of personalised advice and potential patient misinterpretations, emphasising the need for professional oversight. ChatGPT is a valuable adjunct to professional medical consultations, enhancing patient education and engagement. Future research should focus on improving personalisation and evaluating its real-world application in clinical settings.

Background: Neoadjuvant chemotherapy (NAC) is widely accepted as standard treatment in breast cancer, particularly in cases of tumors with aggressive biology. NAC has increased the rates of breast-conserving surgery (BCS) and the conversion of positive axillary nodes detected at initial diagnosis (cN+ to ypN0). In addition, NAC has allowed cases of residual disease to be selected for adjuvant treatments. This new scenario was made possible by innovative neoadjuvant treatments that increase the rate of pathologic complete response (pCR) and significantly change the initial disease volume. A review of concepts is now required, including determining when postmastectomy radiotherapy (PMRT) and regional nodal irradiation (RNI), traditionally indicated in function of the disease volume at the time of diagnosis, should be recommended.

Methods: This scoping review discusses contemporary studies, including the recent National Surgical Adjuvant Breast and Bowel Project (NSABP) B-51, regarding the indication of PMRT and RNI following NAC, focusing on cases in which axillary pCR is achieved.

Results: Fifteen retrospective cohort studies, one prospective cohort study, and the NSABP B-51, a randomized controlled trial, were included in the review. Most of the studies (n=10) evaluated PMRT alone, while 4 evaluated PMRT and RNI, and 3 analyzed only RNI.

Conclusions: The current findings suggest that in cases of axillary pCR (ypN0) obtained after NAC treatment, in patients with breast cancer who had initially been diagnosed with positive axillary nodes (cT1-3 cN1 M0) no benefit is gained from PMRT or RNI. Conversely, in cases of initially more advanced clinical staging (cT4 cN2/3) or residual lymph node disease, radiotherapy should be recommended. Further studies are required to confirm these findings and the possibility of de-escalating radiotherapy according to patient response following NAC.

Background and objective: Triple negative and human epidermal growth factor receptor 2 (HER2)-positive (+) tumors exhibit excellent response to systemic therapy and are known as "exceptional responders". Pathological complete response (pCR) rates have been reported in up to 64% of triple negative breast cancer (TNBC) and 66% of HER2+ patients. The idea of surgical omission has been studied for many decades, but how it will fit into breast cancer practice is unclear. The goal of this review is to provide a comprehensive discussion of the relevant literature surrounding omission of surgery and potential surgical de-escalation for multifocal/multicentric (MF/MC) tumors after neoadjuvant chemotherapy (NAC).

Methods: A literature search with relevant keywords was performed on the PubMed database and University of Rochester Edward Miner Library for studies ranging from 1989-2024. Types of studies included review articles, clinical trials and retrospective studies. A total of 49 studies were reviewed and summarized in this narrative review.

Key content and findings: It is difficult to accurately predict pCR after NAC. Physical exam and imaging are not accurate and image-guided biopsies can have false negative rates (FNR) up to 49.3%; however, with careful patient selection FNR can be as low as 2.9%. Surgical omission trials are ongoing with promising preliminary results, but sample sizes are small, and while physician attitudes towards surgical omission are generally positive, the proportion of patients willing to omit surgery is low. Instead of omission of surgery altogether, an alternative potential for surgical de-escalation is avoidance of mastectomy. The literature on surgical de-escalation for TNBC, HER2+ MF/MC tumors is scarce as most of the surgical omission studies were performed on unifocal tumors. If MF/MC tumors have similar biology and morphology, pCR of the primary site could serve as an indicator of response at the other satellite sites, but more research needs to be done in this area.

Conclusions: Surgical omission studies are ongoing with promising results. Patient attitudes and preferences of surgical omission should be considered as more clinical trials are planned. There is concern about the application of this concept broadly with the resources that are available. Large scale studies with longer follow-up is needed to confirm the safety of surgical de-escalation in this high-risk group of patients.

Background and objective: Around 6% of female breast cancer (BC) cases are attributed to an inherited predisposition. Of the genes associated with an increased risk of BC, CHEK2 stands out as one of those most commonly identified. This review discusses various aspects of the association between the CHEK2 pathogenic variants (PVs) and BC.

Methods: This narrative review involved a comprehensive search of the literature in the PubMed, Embase, Google Scholar and the Latin American and the Caribbean Literature on Health Sciences (LILACS) databases. Original articles, reviews, meta-analyses, medical society consensuses and guidelines published in English were included.

Key content and findings: This review highlights the complexity and challenges involved in managing CHEK2 PV carriers. When assessing the risk of BC in these individuals, family history and the type of mutation (either missense or protein-truncating) are relevant factors, emphasizing the need for personalized risk assessments. Few studies involving large cohorts and focusing on different outcomes were identified, specifically in CHEK2 PV carriers. Consequently, further studies with CHEK2 PV carriers are required that take genetic diversity into consideration, since the available data originate predominantly from cohorts with European ancestry.

Conclusions: This review provides up-to-date evidence on the association between CHEK2 PVs and BC and its implications for the counseling and management of carriers.

Background and objective: Contrast-enhanced mammography (CEM) combines iodine-based contrast agents with dual-energy imaging to enhance the detection of breast cancer, especially in women with dense breast tissue. Dense breasts, which obscure conventional mammography results, present unique diagnostic challenges and an elevated risk of cancer. This review explores the role of CEM in improving diagnostic accuracy in high-density breasts, its comparative performance with other imaging modalities, and its potential implications for clinical practice.

Methods: We conducted a narrative analysis on the use of CEM in dense breast tissue by searching PubMed, Web of Science (WoS), and Google Scholar between September and November 2024. Keywords, rather than MeSH terms, were utilized to refine the search, focusing on terms appearing in article titles. Sixty-six articles were identified, and duplicates or non-eligible studies were excluded, resulting in a final selection of 21 articles published between 2013 and 2024. Additional references were identified through snowballing to contextualize findings.

Key content and findings: CEM demonstrates high sensitivity (89-97.7%) and specificity (50-89%) in detecting malignancies within dense breasts, offering comparable diagnostic accuracy to magnetic resonance imaging (MRI) but with better accessibility and lower cost. Unlike traditional mammography, CEM enhances visibility through functional imaging of contrast uptake, improving detection of small or occult lesions. It also aids in pre-surgical planning by assessing tumor size and multiplicity with greater precision. However, CEM is not without limitations, including radiation exposure and variability in equipment standards. Comparative analyses suggest CEM bridges the gap between conventional mammography and advanced techniques like MRI, particularly in resource-constrained settings.

Conclusions: CEM represents a significant advancement in breast cancer detection, addressing limitations posed by dense breast tissue. Its diagnostic accuracy, cost-effectiveness, and patient accessibility position it as a valuable tool in personalized screening strategies. Further standardization and integration into clinical workflows could expand its role in routine breast cancer management.

Background and objective: In the era of de-escalation and minimally invasive locoregional treatments across many fields of surgical oncology, the treatment of the axilla in breast cancer has garnered significant interest. While the knowledge of axillary lymph node involvement is crucial for multidisciplinary management, the surgical approach to the axillary basin can have potential disadvantages that may impact the quality of life. The objective of this narrative review is to examine studies about de-escalation of axillary treatment in various clinical scenarios, namely the settings of upfront surgery and neoadjuvant systemic treatments. Moreover, trials investigating omission of axillary surgery were examined.

Methods: As of July 2024, a comprehensive literature search, compilation, and analysis were conducted across PubMed, Scopus, Web of Sciences, and ClinicalTrials.gov.

Key content and findings: In patients with clinically node-negative lymph nodes and up to two positive sentinel nodes, avoiding axillary lymph node dissection is a safe option. As for patients receiving neoadjuvant systemic treatment, axillary lymph node dissection is unnecessary if no residual tumor burden remained in the lymph nodes after surgery. Additionally, studies have shown that axillary radiotherapy can be as effective as axillary dissection in certain cases. The avoidance of any axillary surgery might be proposed to highly select sub-groups patients with small tumors and negative on clinical and ultrasound evaluation lymph nodes.

Conclusions: To date, determining the appropriate axillary treatment remains a complex decision that must be made by multidisciplinary teams with expertise in personalized breast cancer treatment.