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Cells
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Predictive Molecular Pathology in Breast Cancer
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Predictive Molecular Pathology in Breast Cancer

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".

Deadline for manuscript submissions: closed (7 April 2023) | Viewed by 11390

Special Issue Editors

Dr. Nicola Fusco

E-Mail Website
Guest Editor
1. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy
2. Division of Pathology, IRCCS European Institute of Oncology (IEO), Milan, Italy
Interests: translational research; breast cancer; biomarkers; immunology; molecular pathology; TILs; precision medicine
Special Issues, Collections and Topics in MDPI journals
Dr. Konstantinos Venetis

E-Mail Website
Guest Editor
1. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy
2. Division of Pathology, IRCCS European Institute of Oncology (IEO), Milan, Italy
Interests: cancer biology; molecular biology; biomarkers; molecular pathology; Next Generation Sequencing; tumor microenvironment; cell culture; flow cytometry; Real-Time Polymerase Chain Reaction
Dr. Elham Sajjadi

E-Mail Website
Guest Editor
1. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy
2. Division of Pathology, IRCCS European Institute of Oncology (IEO), Milan, Italy
Interests: cancer biology; breast cancer; molecular pathology; translational research; tumor microenvironment; TILs; precision medicine

Special Issue Information

Dear Colleagues,

The role of novel biomarkers in treatment decision making in patients with breast cancer is increasing day by day. Owing to recent advancements in the field of translational research, the molecular landscape of breast cancer has been deeply profiled. The detailed assessment of molecular profiles could enhance the possible morphologic and histologic stratification of patients with breast cancer with more accurate prognosis appraisal and further targeted personalized therapy development.

This Special Issue in /Cells/, on “Predictive Molecular Pathology in Breast Cancer”, will solicit original research articles and reviews highlighting exciting new findings in the area of diagnostic, prognostic, and predictive biomarkers in breast cancer. We especially welcome review articles (either systematic or discursive), original translational research studies, and short communications of preliminary, but significant, experimental results. Each submitted manuscript will go through a rigorous peer review process. Submitted manuscripts must not have been published previously nor be under consideration for publication in other journals.

Dr. Nicola Fusco
Dr. Konstantinos Venetis
Dr. Elham Sajjadi
Guest Editors

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. Cells 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 2700 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
  • molecular pathology
  • biomarkers
  • translational research
  • precision medicine
  • targeted therapy

Related Special Issue

Published Papers (4 papers)

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Research

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13 pages, 1351 KiB  
Article
Analytical Performance of Next-Generation Sequencing and RT-PCR on Formalin-Fixed Paraffin-Embedded Tumor Tissues for PIK3CA Testing in HR+/HER2− Breast Cancer
by Konstantinos Venetis, Francesco Pepe, Elisabetta Munzone, Elham Sajjadi, Gianluca Russo, Pasquale Pisapia, Mariia Ivanova, Giuseppina Bonizzi, Davide Vacirca, Alessandra Rappa, Alberto Ranghiero, Sergio Vincenzo Taormina, Giuseppe Viale, Giancarlo Troncone, Massimo Barberis, Elena Guerini-Rocco, Umberto Malapelle and Nicola Fusco
Cells 2022, 11(22), 3545; https://doi.org/10.3390/cells11223545 - 09 Nov 2022
Cited by 7 | Viewed by 2714
Abstract
Somatic mutations in PIK3CA are present in ~40% breast cancers (BC); their detection in hormone receptor (HR)+/HER2− tumors allows for selecting patients with advanced disease eligible for PIK3CA targeting with alpelisib. The choice of what type of PIK3CA testing approach to adopt and [...] Read more.
Somatic mutations in PIK3CA are present in ~40% breast cancers (BC); their detection in hormone receptor (HR)+/HER2− tumors allows for selecting patients with advanced disease eligible for PIK3CA targeting with alpelisib. The choice of what type of PIK3CA testing approach to adopt and which tissue sample to analyze is a new task in breast pathology. In this methodological study, we sought to assess the performance of next-generation sequencing (NGS) and RT-PCR for PIK3CA testing on archival formalin-fixed paraffin-embedded (FFPE) primary tumors and corresponding metastases. Sixteen HR+/HER2− BC with known PIK3CA-mutated status (ex. 7, 9, and 20) on metastatic samples by means of amplicon-based targeted NGS were selected, and n = 13 of these samples were re-tested with a commercially available CE-IVD RT-PCR assay. All available primary tumors (n = 8) were tested with both methods. NGS detected mutations in all samples, while RT-PCR in n = 2 sample-pairs and overall, in n = 5/8 (62.5%) primary tumors and 7/13 (53.8%) metastases (κ = 0.09; 95% CI, −0.69–0.87). Slight agreement (κ = 0; 95% CI, −0.59–0.59) was observed between NGS and RT-PCR, with the former being generally more sensitive in cases with low DNA quality and quantity. Post hoc visual inspection of the RT-PCR data increased the concordance to 76.9%. Targeted NGS offers reliable and robust PIK3CA testing on both tumor and metastasis FFPE samples; the accuracy of RT-PCR depends on the DNA quantity and quality. In HR+/HER2− BC, both the selection of the PIK3CA testing strategy of FFPE tissues and which sample to analyze should consider several technical parameters and should be tailored for each case. Full article
(This article belongs to the Special Issue Predictive Molecular Pathology in Breast Cancer)
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14 pages, 1615 KiB  
Article
Breast Cancer during Pregnancy as a Special Type of Early-Onset Breast Cancer: Analysis of the Tumor Immune Microenvironment and Risk Profiles
by Elham Sajjadi, Konstantinos Venetis, Marianna Noale, Hatem A. Azim, Jr., Concetta Blundo, Giuseppina Bonizzi, Eugenia Di Loreto, Giovanna Scarfone, Stefano Ferrero, Stefania Maggi, Massimo Barberis, Paolo Veronesi, Viviana E. Galimberti, Giuseppe Viale, Nicola Fusco, Fedro A. Peccatori and Elena Guerini-Rocco
Cells 2022, 11(15), 2286; https://doi.org/10.3390/cells11152286 - 24 Jul 2022
Cited by 9 | Viewed by 3684
Abstract
Breast cancer during pregnancy (PrBC) is a rare tumor with only a little information on its immune landscape. Here, we sought to characterize the cellular composition of the tumor microenvironment (TME) of PrBC and identify its differences from early-onset breast cancer (EOBC) in [...] Read more.
Breast cancer during pregnancy (PrBC) is a rare tumor with only a little information on its immune landscape. Here, we sought to characterize the cellular composition of the tumor microenvironment (TME) of PrBC and identify its differences from early-onset breast cancer (EOBC) in non-pregnant women. A total of 83 PrBC and 89 EOBC were selected from our Institutional registry and subjected to tumor-infiltrating lymphocytes (TILs) profiling and immunohistochemistry for CD4, CD8, forkhead box P3 (FOXP3), and programmed death-ligand 1 (PD-L1) (clone 22C3). A significantly lower frequency of hormone receptor (HR)-positive tumors was observed in PrBC. The prevalence of low/null PD-L1 and CD8+TILs was higher in PrBC than in the controls, specifically in HR+/HER2– breast cancers. PrBC had a significantly higher risk of relapse and disease-related death, compared to EOBC. The presence of TILs and each TIL subpopulation were significantly associated with disease relapse. Moreover, the death rate was higher in PrBC with CD8+ TILs. The TME of PrBC is characterized by specific patterns of TIL subpopulations with significant biological and prognostic roles. Routine assessment of TILs and TILs subtyping in these patients would be a valid addition to the pathology report that might help identify clinically relevant subsets of women with PrBC. Full article
(This article belongs to the Special Issue Predictive Molecular Pathology in Breast Cancer)
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15 pages, 37242 KiB  
Article
The Tumor-Specific Expression of L1 Retrotransposons Independently Correlates with Time to Relapse in Hormone-Negative Breast Cancer Patients
by Enrico Berrino, Umberto Miglio, Sara Erika Bellomo, Carla Debernardi, Alberto Bragoni, Annalisa Petrelli, Eliano Cascardi, Silvia Giordano, Filippo Montemurro, Caterina Marchiò, Tiziana Venesio and Anna Sapino
Cells 2022, 11(12), 1944; https://doi.org/10.3390/cells11121944 - 16 Jun 2022
Viewed by 1945
Abstract
Background: Long-Interspersed Nuclear Element (L1) retrotransposons are silenced in healthy tissues but unrepressed in cancer. Even if L1 reactivation has been associated with reduced overall survival in breast cancer (BC) patients, a comprehensive correlation with clinicopathological features is still missing. Methods: Using quantitative, [...] Read more.
Background: Long-Interspersed Nuclear Element (L1) retrotransposons are silenced in healthy tissues but unrepressed in cancer. Even if L1 reactivation has been associated with reduced overall survival in breast cancer (BC) patients, a comprehensive correlation with clinicopathological features is still missing. Methods: Using quantitative, reverse-transcription PCR, we assessed L1 mRNA expression in 12 BC cells, 210 BC patients and in 47 normal mammary tissues. L1 expression was then correlated with molecular and clinicopathological data. Results: We identified a tumor-exclusive expression of L1s, absent in normal mammary cells and tissues. A positive correlation between L1 expression and tumor dedifferentiation, lymph-node involvement and increased immune infiltration was detected. Molecular subtyping highlighted an enrichment of L1s in basal-like cells and cancers. By exploring disease-free survival, we identified L1 overexpression as an independent biomarker for patients with a high risk of recurrence in hormone-receptor-negative BCs. Conclusions: Overall, L1 reactivation identified BCs with aggressive features and patients with a worse clinical fate. Full article
(This article belongs to the Special Issue Predictive Molecular Pathology in Breast Cancer)
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Review

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18 pages, 1338 KiB  
Review
Targeting Post-Translational Modifications to Improve Combinatorial Therapies in Breast Cancer: The Role of Fucosylation
by Gabriele Antonarelli, Valentina Pieri, Francesca Maria Porta, Nicola Fusco, Gaetano Finocchiaro, Giuseppe Curigliano and Carmen Criscitiello
Cells 2023, 12(6), 840; https://doi.org/10.3390/cells12060840 - 08 Mar 2023
Cited by 4 | Viewed by 2222
Abstract
Various tumors rely on post-translational modifications (PTMs) to promote invasiveness and angiogenesis and to reprogram cellular energetics to abate anti-cancer immunity. Among PTMs, fucosylation is a particular type of glycosylation that has been linked to different aspects of immune and hormonal physiological functions [...] Read more.
Various tumors rely on post-translational modifications (PTMs) to promote invasiveness and angiogenesis and to reprogram cellular energetics to abate anti-cancer immunity. Among PTMs, fucosylation is a particular type of glycosylation that has been linked to different aspects of immune and hormonal physiological functions as well as hijacked by many types of tumors. Multiple tumors, including breast cancer, have been linked to dismal prognoses and increased metastatic potential due to fucosylation of the glycan core, namely core-fucosylation. Pre-clinical studies have examined the molecular mechanisms regulating core-fucosylation in breast cancer models, its negative prognostic value across multiple disease stages, and the activity of in vivo pharmacological inhibition, instructing combinatorial therapies and translation into clinical practice. Throughout this review, we describe the role of fucosylation in solid tumors, with a particular focus on breast cancer, as well as physiologic conditions on the immune system and hormones, providing a view into its potential as a biomarker for predicating or predicting cancer outcomes, as well as a potential clinical actionability as a biomarker. Full article
(This article belongs to the Special Issue Predictive Molecular Pathology in Breast Cancer)
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