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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 38076

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Dr. Mauro Giuseppe Mastropasqua

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Department of Emergency and Organs Transplantation, Section of Pathology, School of Medicine, University of Bari “Aldo Moro”, Piazza Giulio Cesare 11, 70124 Bari, Italy
Interests: breast cancer; prognostic and predictive factors; sentinel node; DCIS; prostate cancer; urinary bladder cancer; kidney cancer; molecular pathology; pathology
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Special Issue Information

Dear Colleagues,

Breast cancer is one of the most common oncological diagnosis around the world. Challenging topics in breast cancer encompass several professionals: radiologists in pre-surgical diagnosis by imaging and new 3D techniques; pathologist in pathology reports and clinical management of breast lesions of uncertain malignant potential (B3: papillary lesions; pre-neoplastic diseases) and their terminology according to the 2019WHO classification; pathologists and oncologists in the reproducibility of immunohistochemical assessment of biomarkers, intratumoral heterogeneity, reporting and use of new diagnostic tools as TILs evaluation.

Multidisciplinary team is currently the strongest and most robust instrument for the management of breast cancer patients, and it has currently a wider application in every hospital. A multidisciplinary oncological team is not a simple sum of each one of its components, rather it is the result of a multiplication of professionals’ capabilities aimed at wise choosing the most appropriate treatment for patients.

Prof. Dr. Mauro Mastropasqua
Guest Editor

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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.

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Keywords

Imaging in breast cancer
Pathology report
Pathology diagnostic
Reproducibility
Biomarkers
Intratumoral heterogeneity
Tumor-infiltrating lymphocytes
Multidisciplinary team

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Published Papers (10 papers)

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Research

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12 pages, 2711 KiB

Open AccessArticle

The Pattern of Second Primary Tumours in Postmenopausal Women with Prior Breast Cancer in Western Romania: A Retrospective, Single-Institution Study

by Cristina Marinela Oprean, Larisa Maria Badau, Robert-Alexandru Han, Teodora Hoinoiu, Gabriel-Mugur Dragomir, Daciana Grujic, Tiberiu Dragomir and Alis Dema

Diagnostics 2021, 11(11), 1957; https://doi.org/10.3390/diagnostics11111957 - 22 Oct 2021

Cited by 1 | Viewed by 1950

Abstract

With improved survival, more patients with prior breast cancer are at risk of having a second primary cancer diagnosed. The pattern and impact of second primary cancers following breast cancer is important for overall breast cancer therapeutic management. Our study is a first analysis of the trend of second primary tumours over time in terms of incidence, sites with significantly elevated risks and correlation with stage, molecular subtype and therapeutic strategies conducted in Eastern Europe in postmenopausal women with breast cancer. Patients and methods: Our study population included 28 patients with prior breast cancer (BC) and second primary tumours, which were diagnosed and treated in our Institution between 2004 and 2017. The criteria for selection were based on the completeness of the documentation of the first treatment for breast cancer, stage of disease, molecular subtype, the site of origin of the second tumours and the survival data. Results: An increased risk of second primary cancer was associated with the 51–60 years age group (53.6%), with the greater prevalence in patients living in urban environments (82.1%). The use of chemotherapy increased the risk of the occurrence of gynecological second malignancies (75%). Our study is a first analysis of the trend of second primary tumours over time in terms of identifying sites with significantly elevated risks and correlation with therapeutic strategies conducted in Eastern Europe in postmenopausal women with breast cancer. Conclusions: Our study is a first analysis of the trend of second primary tumours over time in terms of correlation with luminal subtype and stage at diagnosis of primary cancer sites with significantly elevated risks and correlation with therapeutic strategies in postmenopausal women with breast cancer conducted in Eastern Europe. The reported time from primary to second primary malignancy onset, with a significantly higher rate for postmenopausal breast cancer patients, was less than one year (50%). With the advances and wider availability of genetic testing (e.g., gene panels), patients diagnosed with multiple primaries should be increasingly investigated for an underlying cancer predisposition. Postmenopausal women with breast cancer may benefit from increased surveillance and advice to avoid second malignancies. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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15 pages, 8210 KiB

Open AccessArticle

Prognostic Significance of O-GlcNAc and PKM2 in Hormone Receptor-Positive and HER2-Nonenriched Breast Cancer

by Wen-Ling Kuo, Lin-Lu Tseng, Che-Chang Chang, Chih-Jung Chen, Mei-Ling Cheng, Hsin-Hung Cheng, Meng-Jen Wu, Yu-Lun Chen, Ruei-Ting Chang, Hsiang-Yu Tang, Yong-Chen Hsu, Wen-Jye Lin, Cheng-Yuan Kao, Wen-Ping Hsieh, Hsing-Jien Kung and Wen-Ching Wang

Diagnostics 2021, 11(8), 1460; https://doi.org/10.3390/diagnostics11081460 - 12 Aug 2021

Cited by 6 | Viewed by 3298

Abstract

Predictive metabolic biomarkers for the recurrent luminal breast cancer (BC) with hormone receptor (HR)-positive and human epidermal growth factor receptor type 2 (HER2)-negative are lacking. High levels of O-GlcNAcylation (O-GlcNAc) and pyruvate kinase isoenzyme M2 (PKM2) are associated with malignancy in BC; however, the association with the recurrence risk remains unclear. We first conduct survival analysis by using the METABRIC dataset to assess the correlation of PKM2 expression with BC clinical outcomes. Next, patients with HR⁺/HER2- luminal BC were recruited for PKM2/O-GlcNAc testing. Logistic regression and receiver operating characteristic curve analysis were performed to evaluate the 10-year DFS predicted outcome. Survival analysis of the METABRIC dataset revealed that high expression of PKM2 was significantly associated with worse overall survival in luminal BC. The high expression of O-GlcNAc or PKM2 was a significant independent marker for poor 10-year DFS using immunohistochemical analysis. The PKM2 or O-GlcNAc status was a significant predictor of DFS, with the combination of PKM2–O-GlcNAc status and T stage greatly enhancing the predictive outcome potential. In summary, O-GlcNAc, PKM2, and T stage serve as good prognostic discriminators in HR⁺/HER2⁻ luminal BC. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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12 pages, 5448 KiB

Open AccessArticle

Atypical Ductal Hyperplasia after Vacuum-Assisted Breast Biopsy: Can We Reduce the Upgrade to Breast Cancer to an Acceptable Rate?

by Luca Nicosia, Antuono Latronico, Francesca Addante, Rossella De Santis, Anna Carla Bozzini, Marta Montesano, Samuele Frassoni, Vincenzo Bagnardi, Giovanni Mazzarol, Oriana Pala, Matteo Lazzeroni, Germana Lissidini, Mauro Giuseppe Mastropasqua and Enrico Cassano

Diagnostics 2021, 11(6), 1120; https://doi.org/10.3390/diagnostics11061120 - 19 Jun 2021

Cited by 15 | Viewed by 4924

Abstract

(1) Background: to evaluate which factors can reduce the upgrade rate of atypical ductal hyperplasia (ADH) to in situ or invasive carcinoma in patients who underwent vacuum-assisted breast biopsy (VABB) and subsequent surgical excision. (2) Methods: 2955 VABBs were reviewed; 141 patients with a diagnosis of ADH were selected for subsequent surgical excision. The association between patients’ characteristics and the upgrade rate to breast cancer was evaluated in both univariate and multivariate analyses. (3) Results: the upgrade rates to ductal carcinoma in situ (DCIS) and invasive carcinoma (IC) were, respectively, 29.1% and 7.8%. The pooled upgrade rate to DCIS or IC was statistically lower at univariate analysis, considering the following parameters: complete removal of the lesion (p-value < 0.001); BIRADS ≤ 4a (p-value < 0.001); size of the lesion ≤15 mm (p-value: 0.002); age of the patients <50 years (p-value: 0.035). (4) Conclusions: the overall upgrade rate of ADH to DCIS or IC is high and, as already known, surgery should be recommended. However, ADH cases should always be discussed in multidisciplinary meetings: some parameters appear to be related to a lower upgrade rate. Patients presenting these parameters could be strictly followed up to avoid overtreatment. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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22 pages, 2689 KiB

Open AccessArticle

Implementation of Precision Oncology for Patients with Metastatic Breast Cancer in an Interdisciplinary MTB Setting

by Elena Sultova, C. Benedikt Westphalen, Andreas Jung, Joerg Kumbrink, Thomas Kirchner, Doris Mayr, Martina Rudelius, Steffen Ormanns, Volker Heinemann, Klaus H. Metzeler, Philipp A. Greif, Anna Hester, Sven Mahner, Nadia Harbeck and Rachel Wuerstlein

Diagnostics 2021, 11(4), 733; https://doi.org/10.3390/diagnostics11040733 - 20 Apr 2021

Cited by 15 | Viewed by 3205

Abstract

The advent of molecular diagnostics and the rising number of targeted therapies have facilitated development of precision oncology for cancer patients. In order to demonstrate its impact for patients with metastatic breast cancer (mBC), we initiated a Molecular Tumor Board (MTB) to provide treatment recommendations for mBC patients who had disease progression under standard treatment. NGS (next generation sequencing) was carried out using the Oncomine multi-gene panel testing system (Ion Torrent). The MTB reviewed molecular diagnostics’ results, relevant tumor characteristics, patient’s course of disease and made personalized treatment and/or diagnostic recommendations for each patient. From May 2017 to December 2019, 100 mBC patients were discussed by the local MTB. A total 72% of the mBC tumors had at least one molecular alteration (median 2 per case, range: 1 to 6). The most frequent genetic changes were found in the following genes: PIK3CA (19%) and TP53 (17%). The MTB rated 53% of these alterations as actionable and treatment recommendations were made accordingly for 49 (49%) patients. Sixteen patients (16%) underwent the suggested therapy. Nine out of sixteen patients (56%; 9% of all) experienced a clinical benefit with a progression-free survival ratio ≥ 1.3. Personalized targeted therapy recommendations resulting from MTB case discussions could provide substantial benefits for patients with mBC and should be implemented for all suitable patients. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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10 pages, 1068 KiB

Open AccessArticle

Methylation of the NT5E Gene Is Associated with Poor Prognostic Factors in Breast Cancer

by Young Ju Jeong, Hoon Kyu Oh, Hye Ryeon Choi and Sung Hwan Park

Diagnostics 2020, 10(11), 939; https://doi.org/10.3390/diagnostics10110939 - 12 Nov 2020

Cited by 8 | Viewed by 2303

Abstract

Cluster of differentiation (CD) 73, which is encoded by the NT5E gene, regulates production of immunosuppressive adenosine and is an emerging checkpoint in cancer immunotherapy. Despite the significance of CD73 in immuno-oncology, the roles of the NT5E gene methylation in breast cancer have not been well-defined yet. Therefore, we aimed to investigate the prognostic significance of the NT5E gene methylation in breast cancer. The DNA methylation status of the NT5E gene was analyzed using pyrosequencing in breast cancer tissues. In addition, the levels of inflammatory markers and lymphocyte infiltration were evaluated. The mean methylation level of the NT5E gene was significantly higher in breast cancer than in normal breast tissues. In the analysis of relevance with clinicopathologic characteristics, the mean methylation levels of the NT5E gene were significantly higher in patients with large tumor size, high histologic grade, negative estrogen receptor expression, negative Bcl-2 expression, and premenopausal women. There was no difference in disease-free survival according to the methylation status of the NT5E gene. We found that the NT5E gene methylation was related to breast cancer development and associated with poor prognostic factors in breast cancer. Our results suggest that the NT5E gene methylation has potential as an epigenetic biomarker in breast cancer. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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13 pages, 544 KiB

Open AccessArticle

Diagnostic Accuracy of Fine-Needle Aspiration Cytology and Core-Needle Biopsy in the Assessment of the Axillary Lymph Nodes in Breast Cancer—A Meta-Analysis

by Jung-Soo Pyo, Jaehag Jung, Seul Gi Lee, Nae-Yu Kim and Dong-Wook Kang

Diagnostics 2020, 10(9), 717; https://doi.org/10.3390/diagnostics10090717 - 18 Sep 2020

Cited by 16 | Viewed by 4701

Abstract

Background: The present study aims to evaluate the diagnostic accuracy between ultrasonography-guided fine-needle aspiration cytology (US-FNAC) and core needle biopsy (CNB) of axillary lymph nodes (ALNs) in patients with breast cancer through a meta-analysis and a diagnostic test accuracy (DTA) review. Methods: The present meta-analysis and DTA review included 67 eligible studies. The diagnostic accuracy of various preoperative assessments, including US-FNAC and CNB, was evaluated for ALNs assessments in patients with breast cancer. In addition, a subgroup analysis based on methods of cytologic preparation was performed. In the DTA review, the sensitivity, specificity, diagnostic odds ratio (OR) and area under the curve (AUC) on the summary receiver operating characteristic (SROC) curve were calculated. Results: The diagnostic accuracy of the preoperative assessments of ALNs was 0.850 (95% confidence interval (CI) 0.833–0.866) for patients with breast cancer. The diagnostic accuracy of CNB was significantly higher than that of US-FNAC (0.896, 95% CI 0.844–0.932 vs. 0.844, 95% CI 0.825–0.862; p = 0.044 in a meta-regression test). In the subgroup analysis based on cytologic preparation, the diagnosis accuracies were 0.860, 0.861 and 0.859 for the methods of conventional smear, liquid-based preparation and cell block, respectively. In the DTA review, CNB showed higher sensitivity than US-FNAC (0.849 vs. 0.760). However, there was no difference in specificity between US-FNAC and CNB (0.997 vs. 1.000). US-FNAC with liquid-based preparation and CNB showed the highest diagnostic OR and AUC on the SROC, respectively. Conclusion: Both US-FNAC and CNB are useful in preoperative assessments of ALNs in patients with breast cancer. Although the most sensitive test was found to be CNB in this study, there was no difference in specificity between various preoperative evaluations and the application of US-FNAC or CNB may be impacted by various factors. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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Review

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11 pages, 651 KiB

Open AccessReview

Breast Cancer Heterogeneity

by Caterina Fumagalli and Massimo Barberis

Diagnostics 2021, 11(9), 1555; https://doi.org/10.3390/diagnostics11091555 - 27 Aug 2021

Cited by 29 | Viewed by 4402

Abstract

Breast tumor heterogeneity is a major challenge in the clinical management of breast cancer patients. Both inter-tumor and intra-tumor heterogeneity imply that each breast cancer (BC) could have different prognosis and would benefit from specific therapy. Breast cancer is a dynamic entity, changing during tumor progression and metastatization and this poses fundamental issues to the feasibility of a personalized medicine approach. The most effective therapeutic strategy for patients with recurrent disease should be assessed evaluating biopsies obtained from metastatic sites. Furthermore, the tumor progression and the treatment response should be strictly followed and radiogenomics and liquid biopsy might be valuable tools to assess BC heterogeneity in a non-invasive way. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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13 pages, 7163 KiB

Open AccessReview

Prognostic Role and Clinical Significance of Tumor-Infiltrating Lymphocyte (TIL) and Programmed Death Ligand 1 (PD-L1) Expression in Triple-Negative Breast Cancer (TNBC): A Systematic Review and Meta-Analysis Study

by Parisa Lotfinejad, Mohammad Asghari Jafarabadi, Mahdi Abdoli Shadbad, Tohid Kazemi, Fariba Pashazadeh, Siamak Sandoghchian Shotorbani, Farhad Jadidi Niaragh, Amir Baghbanzadeh, Nafiseh Vahed, Nicola Silvestris and Behzad Baradaran

Diagnostics 2020, 10(9), 704; https://doi.org/10.3390/diagnostics10090704 - 17 Sep 2020

Cited by 61 | Viewed by 5622

Abstract

This meta-analysis aimed to evaluate the prognostic value of tumor-infiltrating lymphocytes (TILs) and programmed death-ligand 1 (PD-L1), their associations with the clinicopathological characteristics, and the association between their levels in patients with triple-negative breast cancer (TNBC). PubMed, EMBASE, Scopus, ProQuest, Web of Science, and Cochrane Library databases were searched to obtain the relevant papers. Seven studies with 1152 patients were included in this study. Like the level of TILs, there were no significant associations between PD-L1 expression and tumor size, tumor stage, lymph node metastasis, histological grade, and Ki67 (All p-values ≥ 0.05). Furthermore, there was no significant association between PD-L1 expression with overall survival (OS) and disease-free survival (DFS). In assessment of TILs and survival relationship, the results showed that a high level of TILs was associated with long-term OS (hazard ratios (HR) = 0.48, 95% CI: 0.30 to 0.77, p-value < 0.001) and DFS (HR = 0.53, 95% CI: 0.35 to 0.78, p-value < 0.001). The results displayed that tumoral PD-L1 expression was strongly associated with high levels of TILs in TNBC patients (OR = 8.34, 95% CI: 2.68 to 25.95, p-value < 0.001). In conclusion, the study has shown the prognostic value of TILs and a strong association between tumoral PD-L1 overexpression with TILs in TNBC patients. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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Other

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10 pages, 4697 KiB

Open AccessCase Report

Unilateral Orbital Metastasis as the Unique Symptom in the Onset of Breast Cancer in a Postmenopausal Woman: Case Report and Review of the Literature

by Cristina Marinela Oprean, Larisa Maria Badau, Nusa Alina Segarceanu, Andrei Dorin Ciocoiu, Ioana Alexandra Rivis, Vlad Norin Vornicu, Teodora Hoinoiu, Daciana Grujic, Cristina Bredicean and Alis Dema

Diagnostics 2021, 11(4), 725; https://doi.org/10.3390/diagnostics11040725 - 19 Apr 2021

Cited by 5 | Viewed by 3538

Abstract

The orbit represents an unusual metastases site for patients diagnosed with cancer, however, breast cancer is the main cause of metastases at this level. These orbital metastases were discovered in patients with a history of breast cancer as unique or synchronous lesions. We present a rare case of a unique retroocular metastasis as the first initial symptom of a tubulo-lobular mammary carcinoma in a postmenopausal woman. A 57-year-old patient complains of diplopia, diminishing visual acuity, orbital tenderness, slight exophthalmia and ptosis of the left eyelid, with insidious onset. Clinical examination and subsequent investigations revealed a left breast cancer cT2 cN1 pM1 stage IV. Breast conserving surgery was performed on the left breast. Pathological examination with immunohistochemistry staining established the complete diagnostic: pT2pN3aM1 Stage IV breast cancer, luminal B subtype. After two years from the initial breast cancer diagnosis, the patient was diagnosed by the psychiatrist with a depressive disorder and was treated accordingly. Orbital metastases are usually discovered in known breast cancer patients and they are found in the context of a multi-system end-stage disease. Most reports cite that up to 25% of the total orbital metastases cases are discovered before the diagnosis of the primary tumor, as our case did. MRI is the gold standard for evaluating orbital tumors. The ILC histological subtype metastasizes in the orbitals more frequently than invasive ductal carcinoma. The prognosis of patients with orbital metastases is poor. The median survival after diagnosis of orbital metastases from a breast cancer primary is ranging from 22 to 31 months. Overall survival of our patient was 56 months, longer than the median survival reported in literature. Orbital metastases must be taken into account when patients accuse ophthalmologic symptoms even in the absence of a personal history of cancer. Objective examination of every patient that incriminates these types of symptoms is essential, and breast palpation must be made in every clinical setting. Orbital biopsy is necessary for the confirmation of the diagnosis and for an adequate treatment. Although recommendations for management of orbital metastases are controversial, it appears that multidisciplinary treatment of both metastases and primary cancer improves overall survival. Full article

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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9 pages, 16077 KiB

Open AccessCase Report

Melanocyte Colonization and Pigmentation of Breast Carcinoma: Description of Two Pathological Cases and Review of Literature

by Angela Santoro, Giuseppe Angelico, Vincenzo Fiorentino, Qianqian Zhang, Saveria Spadola, Angela Carlino, Alejandro Martin Sanchez, Gianluca Franceschini, Gian Franco Zannoni and Antonino Mulè

Diagnostics 2021, 11(4), 709; https://doi.org/10.3390/diagnostics11040709 - 15 Apr 2021

Cited by 2 | Viewed by 2762

Abstract

Colonization of breast carcinoma by non-neoplastic melanocytes of epidermal origin was first described by Azzopardi and Eusebi in 1977. We herein report two cases on the exceptional clinical and pathological features of this phenomenon in a 66-year-old and a 51-year-old patients. The pathogenesis [...] Read more.

(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)

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