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Diagnostics
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Diagnosis and Precision in Breast Cancer
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Diagnosis and Precision in Breast Cancer

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: closed (31 March 2025) | Viewed by 9649

Special Issue Editor

Dr. Marko Spasic

E-Mail Website
Guest Editor
Clinic for General Surgery, University Clinical Center Kragujevac Serbia, Department of Surgery, Faculty of Medical Sciences University of Kragujevac, Kragujevac, Serbia
Interests: breast surgery; surgical oncology

Special Issue Information

Dear Colleagues,

Based on WHO data from 2019, malignant diseases are the first or second most frequent cause of morbidity in people under 70 years of age in 112 countries, and for women in most parts of the world, breast cancer is one of the leading causes of death, with rising incidence. Advances in diagnostics have led to early detection followed by decreasing breast cancer mortality. Precision in detecting and treating breast cancer can relate to any part of patient care, from tailoring diagnostic and individualized treatments such as surgery, systemic therapy and radiotherapy, to long-term survivorship, relying on evidence, clinical practice and detailed disease characterization, and thus, providing the right therapy, to the right person, at the right time. Although there have been impressive advances in precision oncology over the past decade, especially in the field of molecular characterization and the tumor microenvironment, the potential effects of precision medicine have not yet produced the desired results. In this Special Issue of Diagnostics, we want to address the diagnostic modalities that could help medical professionals tailor an individual approach to patients with breast cancer. We welcome all manuscripts that focus on: the individualization of diagnostic methods, determining personalized screening for high-risk populations, family gene burden, tumor heterogeneity, tailored treatment, predictive tools for optimizing therapy, and the use of artificial intelligence.

Dr. Marko Spasic
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • breast cancer
  • diagnostics
  • personalized medicine
  • tumor heterogeneity
  • individualized treatment

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Published Papers (5 papers)

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Research

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10 pages, 3161 KiB  
Article
Radiation-Induced Breast Angiosarcoma—A Single-Institution Experience
by Marko Buta, Nada Santrac, Milan Zegarac, Merima Goran, Nikola Jeftic, Nevena Savkovic, Jovan Raketic, Saska Pavlovic, Ognjen Zivkovic, Aleksandar Rankovic and Ivan Markovic
Diagnostics 2024, 14(20), 2326; https://doi.org/10.3390/diagnostics14202326 - 18 Oct 2024
Cited by 1 | Viewed by 1227
Abstract
Introduction: Radiation-induced breast angiosarcoma (RIBAS) is a rare adverse event associated with postoperative breast irradiation. The data from the literature indicate that RIBAS occurs in less than 0.3% of patients treated with adjuvant radiotherapy for breast cancer. Given the rarity, diverse clinical [...] Read more.
Introduction: Radiation-induced breast angiosarcoma (RIBAS) is a rare adverse event associated with postoperative breast irradiation. The data from the literature indicate that RIBAS occurs in less than 0.3% of patients treated with adjuvant radiotherapy for breast cancer. Given the rarity, diverse clinical presentation, poor prognosis, and lack of consensus on the management, this study aimed to present experiences of our specialized cancer center with RIBAS, in terms of the incidence, presentation, management, and outcomes. Methods: We reviewed the medical records of 10,834 breast cancer patients treated at the Institute for Oncology and Radiology of Serbia between January 2013 and June 2024 to detect patients that had breast-conserving surgery, followed by postoperative irradiation, and developed angiosarcoma in the irradiated area at least 3 years after radiotherapy, without distant metastases. The incidence, latency period, management, and treatment outcomes were analyzed. Results: A total of nine female patients with RIBAS were identified and included in this study. The median age at RIBAS diagnosis was 64 years (range: 36–68), with a median latency of 64 months (95% CI > 57) from irradiation to diagnosis. The mean tumor size was 55 mm (SD 32.78). Patients were followed for a median of 30 months (range: 7–40) after initial RIBAS surgery. Local recurrence occurred in seven patients (77.8%), with five undergoing re-do surgery with curative intent. Three patients developed distant metastases during follow-up. The median overall survival (OS) was 31 months (95% CI > 30), with a 3-year survival rate of 15.2% (95% CI 2.5–91.6%). The median local recurrence-free interval was 10 months (95% CI > 3). Median OS after RIBAS local recurrence and after breast cancer treatment was 17 months (95% CI > 15) and 108 months (95% CI > 88), respectively. Conclusions: RIBAS is a rare but increasingly prevalent adverse event associated with BC irradiation, marked by an aggressive disease course and high relapse rates. Awareness, prompt diagnosis, and a radical surgical approach with wide clear margins are critical for improving patients’ outcomes. Full article
(This article belongs to the Special Issue Diagnosis and Precision in Breast Cancer)
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11 pages, 2835 KiB  
Article
Factors Influencing Background Parenchymal Enhancement in Contrast-Enhanced Mammography Images
by Daniel Wessling, Simon Männlin, Ricarda Schwarz, Florian Hagen, Andreas Brendlin, Sebastian Gassenmaier and Heike Preibsch
Diagnostics 2024, 14(19), 2239; https://doi.org/10.3390/diagnostics14192239 - 8 Oct 2024
Cited by 2 | Viewed by 1076
Abstract
Background: The aim of this study is to evaluate the correlation between background parenchymal enhancement (BPE) and various patient-related and technical factors in recombined contrast-enhanced spectral mammography (CESM) images. Material and Methods: We assessed CESM images from 62 female patients who underwent CESM [...] Read more.
Background: The aim of this study is to evaluate the correlation between background parenchymal enhancement (BPE) and various patient-related and technical factors in recombined contrast-enhanced spectral mammography (CESM) images. Material and Methods: We assessed CESM images from 62 female patients who underwent CESM between May 2017 and October 2019, focusing on factors influencing BPE. A total of 235 images, all acquired using the same mammography machine, were analyzed. A region of interest (ROI) with a standard size of 0.75 to 1 cm2 was used to evaluate the minimal, maximal, and average pixel intensity enhancement. Additionally, the images were qualitatively assessed on a scale from 1 (minimal BPE) to 4 (marked BPE). We examined correlations with body mass index (BMI), age, hematocrit, hemoglobin levels, cardiovascular conditions, and the amount of pressure applied during the examination. Results: Our study identified a significant correlation between the amount of pressure applied during the examination and the BPE (Spearman’s ρ = 0.546). Additionally, a significant but weak correlation was observed between BPE and BMI (Spearman’s ρ = 0.421). No significant associations were found between BPE and menopausal status, cardiovascular preconditions, hematocrit, hemoglobin levels, breast density, or age. Conclusions: Patient-related and procedural factors significantly influence BPE in CESM images. Specifically, increased applied pressure and BMI are associated with higher BPE. Full article
(This article belongs to the Special Issue Diagnosis and Precision in Breast Cancer)
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13 pages, 838 KiB  
Article
Comparison of Diagnostic Performance between Classic and Modified Abbreviated Breast MRI and the MRI Features Affecting Their Diagnostic Performance
by Subin Lee, Eun Jung Choi, Hyemi Choi and Jung Hee Byon
Diagnostics 2024, 14(3), 282; https://doi.org/10.3390/diagnostics14030282 - 27 Jan 2024
Cited by 2 | Viewed by 1371
Abstract
Abbreviated breast magnetic resonance imaging (AB-MRI) has emerged as a supplementary screening tool, though protocols have not been standardized. The purpose of this study was to compare the diagnostic performance of modified and classic AB-MRI and determine MRI features affecting their diagnostic performance. [...] Read more.
Abbreviated breast magnetic resonance imaging (AB-MRI) has emerged as a supplementary screening tool, though protocols have not been standardized. The purpose of this study was to compare the diagnostic performance of modified and classic AB-MRI and determine MRI features affecting their diagnostic performance. Classic AB-MRI included one pre- and two post-contrast T1-weighted imaging (T1WI) scans, while modified AB-MRI included a delayed post-contrast axial T1WI scan and an axial T2-weighted interpolated scan obtained between the second and third post-contrast T1WI scans. Four radiologists (two specialists and two non-specialists) independently categorized the lesions. The MRI features investigated were lesion size, lesion type, and background parenchymal enhancement (BPE). The Wilcoxon rank-sum test, Fisher’s exact test, and bootstrap-based test were used for statistical analysis. The average area under the curve (AUC) for modified AB-MRI was significantly greater than that for classic AB-MRI (0.76 vs. 0.70, p = 0.010) in all reader evaluations, with a similar trend in specialist evaluations (0.83 vs. 0.76, p = 0.004). Modified AB-MRI demonstrated increased AUCs and better diagnostic performance than classic AB-MRI, especially for lesion size > 10 mm (p = 0.018) and mass lesion type (p = 0.014) in specialist evaluations and lesion size > 10 mm (p = 0.003) and mild (p = 0.026) or moderate BPE (p = 0.010) in non-specialist evaluations. Full article
(This article belongs to the Special Issue Diagnosis and Precision in Breast Cancer)
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15 pages, 3737 KiB  
Article
FAM83H Expression Is Associated with Tumor-Infiltrating PD1-Positive Lymphocytes and Predicts the Survival of Breast Carcinoma Patients
by Ji Eun Choi, Ae Ri Ahn, Junyue Zhang, Kyoung Min Kim, Ho Sung Park, Ho Lee, Myoung Ja Chung, Woo Sung Moon and Kyu Yun Jang
Diagnostics 2023, 13(18), 2959; https://doi.org/10.3390/diagnostics13182959 - 15 Sep 2023
Viewed by 1695
Abstract
Background: FAM83H has been implicated in cancer progression, and PD1 is an important target for anti-cancer immune checkpoint therapy. Recent studies suggest an association between FAM83H expression and immune infiltration. However, studies on the roles of FAM83H and its relationship with PD1 in [...] Read more.
Background: FAM83H has been implicated in cancer progression, and PD1 is an important target for anti-cancer immune checkpoint therapy. Recent studies suggest an association between FAM83H expression and immune infiltration. However, studies on the roles of FAM83H and its relationship with PD1 in breast carcinomas have been limited. Methods: Immunohistochemical expression of FAM83H and PD1 and their prognostic significance were evaluated in 198 breast carcinomas. Results: The expression of FAM83H in cancer cells was significantly associated with the presence of PD1-positive lymphoid cells within breast carcinoma tissue. Individual and co-expression patterns of nuclear FAM83H and PD1 were significantly associated with shorter survival of breast carcinomas in univariate analysis. In multivariate analysis, the expression of nuclear FAM83H (overall survival, p < 0.001; relapse-free survival, p = 0.003), PD1 (overall survival, p < 0.001; relapse-free survival, p = 0.003), and co-expression patterns of nuclear FAM83H and PD1 (overall survival, p < 0.001; relapse-free survival, p < 0.001) were the independent indicators of overall survival and relapse-free survival of breast carcinoma patients. Conclusions: This study suggests a close association between FAM83H expression and the infiltration of PD1-positive lymphoid cells in breast carcinomas and their expression as the prognostic indicators for breast carcinoma patients, and further studies are needed to clarify this relationship. Full article
(This article belongs to the Special Issue Diagnosis and Precision in Breast Cancer)
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Review

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16 pages, 1660 KiB  
Review
Triple-Negative Breast Cancer: Molecular Particularities Still a Challenge
by Vlad Bogdan Varzaru, Tania Vlad, Roxana Popescu, Cristian Sebastian Vlad, Aurica Elisabeta Moatar and Ionut Marcel Cobec
Diagnostics 2024, 14(17), 1875; https://doi.org/10.3390/diagnostics14171875 - 27 Aug 2024
Cited by 13 | Viewed by 3125
Abstract
Worldwide, breast cancer (BC) is one of the most common cancers in women and is responsible for the highest number of cancer-related deaths among women, with a special clinical behavior and therapy response. Triple-negative breast cancer (TNBC) is seen as a highly invasive [...] Read more.
Worldwide, breast cancer (BC) is one of the most common cancers in women and is responsible for the highest number of cancer-related deaths among women, with a special clinical behavior and therapy response. Triple-negative breast cancer (TNBC) is seen as a highly invasive BC, characterized by a short survival, higher mortality, recurrence, and metastasis when it is compared to the other BC subtypes. The molecular subtyping of TNBC based on mRNA expression levels does not accurately reflect protein expression levels, which impacts targeted therapy effectiveness and prognostic predictions. Most TNBC cases exhibit a high frequency of homologous recombination (HR) DNA repair deficiency (HRD) signatures and are associated with a complex genomic profile. Biomarker research in TNBC includes investigating genetic mutations, gene expression patterns, immune system-related markers, and other factors that can provide valuable information for diagnosis, treatment selection, and patient outcomes. Additionally, these biomarkers are often crucial in the development of personalized and precision medicine approaches, where treatments are customized to each patient’s unique characteristics. This ongoing research is essential for improving the management and outcomes of TNBC, which is a challenging and heterogeneous form of breast cancer. The findings of this research have practical implications for refining treatment strategies, particularly in selecting appropriate systemic therapies and integrating traditional treatment modalities like surgery and radiotherapy into comprehensive care plans for TNBC patients. Full article
(This article belongs to the Special Issue Diagnosis and Precision in Breast Cancer)
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