Submit to Cancers Review for Cancers Propose a Special Issue

Journal Menu

Journal Browser

► Journal Browser

Advances in Molecular Oncology and Therapeutics

Special Issue Editors
Special Issue Information
Keywords
Benefits of Publishing in a Special Issue
Published Papers

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: closed (28 February 2025) | Viewed by 15812

Share This Special Issue

Special Issue Editors

Dr. Amila M. Suraweera

E-Mail Website
Guest Editor

School of Biomedical Sciences, Centre for Genomics and Personalised Health, Translational Research Institute, Queensland University of Technology (QUT), 37 Kent Street, Woolloongabba, QLD 4102, Australia
Interests: genomic stability; DNA repair; cancer biology; cancer therapeutics

Dr. James A.L. Brown

E-Mail Website
Guest Editor

Department of Biological Sciences, University of Limerick, V94 T9PX Limerick, Ireland
Interests: genome stability; therapeutics; breast cancer; epigenetics; cancer mechanisms; biomarkers

Special Issue Information

Dear Colleagues,

Advances in precision medicine and molecular oncology have revolutionized cancer treatment by tailoring therapies to match each individual patients’ unique tumour profile. Underpinning this, is precision medicines use of cutting-edge technologies to create and integrate omic profiles (including genomic, transcriptomic, proteomic, immunological, metabolomic) to identify clinically relevant biomarkers. These molecular profiles facilitate optimized personalized treatment strategies, enhancing therapeutic options and minimizing unnecessary side effects.

Molecular oncology has seen significant advancements in our understanding of the molecular mechanisms underpinning cancer biology. Identification of genetic mutations, dysregulated expression patterns of proteins, genes and microRNA, and improved understanding of how these changes alter the signalling pathways involved in tumour initiation, progression, and resistance to treatment, has led to the development of targeted therapies. Targeted therapies are designed to specifically target the changes responsible for cancer cell survival, proliferation and therapeutic resistance.

Aiding this, novel diagnostic tools have emerged, including liquid biopsies and next-generation sequencing techniques, enabling non-invasive and/or comprehensive profiling of tumour profiles (transcriptomic, genomic and epigenetic). This profiling facilitates early detection of cancer and monitoring of treatment response, which can be used to inform therapeutic regimens.

There has been significant recent advances in the molecular understanding and development of novel cancer therapeutics. For this special issue, we are interested in publishing the latest research in molecular oncology, and advances in the areas related to therapeutics, including the development of new drugs and improved understanding of the mechanism of action of current therapeutics or the investigation of therapeutic resistance mechanisms.

In this Special Issue, original research articles and review articles are welcome. Research areas may include (but are not limited to) the following:

Cancer Biomarkers;
Molecular Oncology;
Cancer therapeutics;
Mechanisms of therapeutic resistance;
Anti-cancer drug development and characterisation.

We look forward to receiving your contributions.

Dr. Amila M. Suraweera
Dr. James A.L. Brown
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 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. Cancers 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 2900 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

cancer
oncology
therapeutics
signalling
genome instability
treatment

Benefits of Publishing in a Special Issue

Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (12 papers)

Download All Papers

Order results

Result details

Show export options Show export options

Select all

Export citation of selected articles as:

Research

Jump to: Review, Other

16 pages, 6583 KiB

Open AccessArticle

Targeting Mediator Kinase Cyclin-Dependent Kinases 8/19 Potentiates Chemotherapeutic Responses, Reverses Tumor Growth, and Prolongs Survival from Ovarian Clear Cell Carcinoma

by Wade C. Barton, Asha Kumari, Zachary T. Mack, Gary P. Schools, Liz Macias Quintero, Alex Seok Choi, Karthik Rangavajhula, Rebecca C. Arend, Eugenia V. Broude and Karthikeyan Mythreye

Cancers 2025, 17(6), 941; https://doi.org/10.3390/cancers17060941 - 10 Mar 2025

Viewed by 686

Abstract

Background/Objective: Ovarian clear cell carcinomas (OCCCs) are a rare histological subtype of epithelial ovarian cancer characterized by resistance to platinum-based therapy. CDK8/19, a component of the regulatory CDK module associated with Mediator complex, has been implicated in transcriptional reprogramming and drug resistance in various solid tumors. Our study aimed to investigate the therapeutic potential of CDK8/19 kinase inhibition using selective inhibitors SNX631 and SNX631-6 in OCCC treatment, both as monotherapy and in combination with standard chemotherapeutics. Methods: CDK8 and Ki67 levels were evaluated via immunohistochemistry in benign, primary, and metastatic ovarian cancer tissues. The efficacy of SNX631 alone and in combination with cisplatin or paclitaxel was assessed in OCCC cell lines (ES-2, TOV-21-G, RMG-1). In vivo evaluation utilized xenograft models with subcutaneous and intraperitoneal delivery of the OCCC ES2 cells and oral delivery of SNX631-6, with the monitoring of tumor growth, metastatic spread, and survival. Results: CDK8 protein levels were elevated in OC tissues, particularly in OCCC primary and metastatic lesions compared to benign tissue. While CDK8/19 inhibition showed limited effects on in vitro cell proliferation, SNX631-6 demonstrated significant antitumor and anti-metastatic activity in vivo. Notably, SNX631-6 enhanced the efficacy of cisplatin, substantially inhibiting tumor growth and extending overall survival. Conclusions: Therapeutically achievable doses of CDK8/19 inhibitors may provide clinical benefit for OCCC patients by inhibiting tumor growth and reversing platinum resistance, potentially addressing a critical treatment challenge in this rare ovarian cancer subtype. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

14 pages, 3863 KiB

Open AccessArticle

Quantitative Structural Analysis of Hyperchromatic Crowded Cell Groups in Cervical Cytology: Overcoming Diagnostic Pitfalls

by Shinichi Tanaka, Tamami Yamamoto and Norihiro Teramoto

Cancers 2024, 16(24), 4258; https://doi.org/10.3390/cancers16244258 - 21 Dec 2024

Viewed by 754

Abstract

Background: The diagnostic challenges presented by hyperchromatic crowded cell groups (HCGs) in cervical cytology often result in either overdiagnosis or underdiagnosis due to their densely packed, three-dimensional structures. The objective of this study is to characterize the structural differences among HSIL-HCGs, AGC-HCGs, and NILM-HCGs using quantitative texture analysis metrics, with the aim of facilitating the differentiation of benign from malignant cases. Methods: A total of 585 HCGs images were analyzed, with assessments conducted on 8-bit gray-scale value, thickness, skewness, and kurtosis across various groups. Results: HSIL-HCGs are distinctly classified based on 8-bit gray-scale value. Significant statistical differences were observed in all groups, with HSIL-HCGs exhibiting higher cellular density and cluster thickness compared to NILM and AGC groups. In the AGC group, HCGs shows statistically significant differences in 8-bit gray-scale value compared to NILM-HCGs, but the classification performance by 8-bit gray-scale value is not high because the cell density and thickness are almost similar. These variations reflect the characteristic cellular structures unique to each group and substantiate the potential of 8-bit gray-scale value as an objective diagnostic indicator, especially for HSIL-HCGs. Conclusion: Our findings indicate that the integration of gray-scale-based texture analysis has the potential to improve diagnostic accuracy in cervical cytology and break through current diagnostic limitations in the identification of high-risk lesions. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

25 pages, 5957 KiB

Open AccessArticle

The Role of miR-486-5p on CSCs Phenotypes in Colorectal Cancer

by Federica Etzi, Carmen Griñán-Lisón, Grazia Fenu, Aitor González-Titos, Andrea Pisano, Cristiano Farace, Angela Sabalic, Manuel Picon-Ruiz, Juan Antonio Marchal and Roberto Madeddu

Cancers 2024, 16(24), 4237; https://doi.org/10.3390/cancers16244237 - 19 Dec 2024

Cited by 1 | Viewed by 873

Abstract

Background: Colorectal cancer (CRC) is the third diagnosed cancer worldwide. Forty-four percent of metastatic colorectal cancer patients were diagnosed at an early stage. Despite curative resection, approximately 40% of patients will develop metastases within a few years. Previous studies indicate the presence of cancer stem cells (CSCs) and their contribution to CRC progression and metastasis. miRNAs deregulation plays a role in CSCs formation and in tumor development. In light of previous studies, we investigated the role of miR-486-5p to understand its role in CSC better. Methods: The expression of miR-486-5p was assessed in adherent cells and spheres generated from two CRC cell lines to observe the difference in expression in CSC-enriched spheroids. Afterward, we overexpressed and underexpressed this miRNA in adherent and sphere cultures through the transfection of a miR-486-5p mimic and a mimic inhibitor. Results: The results demonstrated that miR-486-5p exhibited a notable downregulation in CSC models, and its overexpression led to a significant decrease in colony size. Conclusions: In this study, we confirmed that miR-486-5p plays an oncosuppressive role in CRC, thereby advancing our understanding of the role of this microRNA in the CSC phenotype. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

14 pages, 1749 KiB

Open AccessArticle

Description of a New miRNA Signature for the Surgical Management of Thyroid Nodules

by Marie Quiriny, Joel Rodrigues Vitόria, Manuel Saiselet, Geneviève Dom, Nicolas De Saint Aubain, Esther Willemse, Antoine Digonnet, Didier Dequanter, Alexandra Rodriguez, Guy Andry, Vincent Detours and Carine Maenhaut

Cancers 2024, 16(24), 4214; https://doi.org/10.3390/cancers16244214 - 18 Dec 2024

Viewed by 723

Abstract

Background: The diagnosis of malignant thyroid nodules is mainly based on the fine-needle aspiration biopsy (FNAB). To improve the detection of malignant nodules, different molecular tests have been developed. We present a new molecular signature based on altered miRNA expressions and specific mutations. Methods: This is a prospective non-interventional study, including all Bethesda categories, carried out on an FNAB sampled in suspicious nodule(s) during thyroidectomy. miRNA quantification and mutations detection were performed. The reference diagnosis was the pathological assessment of the surgical specimen. Different classification algorithms were trained with molecular data to correctly classify the samples. Results: A total of 294 samples were recorded and randomly divided in two equal groups. The random forest algorithm showed the highest accuracy and used mostly miRNAs to classify the nodules. The sensitivity and the specificity of our signature were, respectively, 76% and 96%, and the positive and negative predictive values were both 90% (disease prevalence of 30%). Conclusions: We have identified a molecular classifier that combines miRNA expressions with mutations detection. This signature could potentially help clinicians, as complementary to the Bethesda classification, to discriminate indeterminate FNABs. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

9 pages, 1294 KiB

Open AccessArticle

ARAF Amplification in Small-Cell Lung Cancer-Transformed Tumors Following Resistance to Epidermal Growth Factor Receptor–Tyrosine Kinase Inhibitors

by Ryo Kimura, Yuta Adachi, Kentaro Hirade, Satoru Kisoda, Shogo Yanase, Noriko Shibata, Makoto Ishii, Yutaka Fujiwara, Rui Yamaguchi, Yasuko Fujita, Waki Hosoda and Hiromichi Ebi

Cancers 2024, 16(20), 3501; https://doi.org/10.3390/cancers16203501 - 16 Oct 2024

Viewed by 1849

Abstract

Background/Objectives: Although tyrosine kinase inhibitors (TKIs) targeting EGFR-activating mutations significantly improved the outcome of EGFR-mutant NSCLC, resistance inevitably emerges. Despite the heterogeneity of these resistance mechanisms, many induce activation of MAPK signaling in the presence of EGFR-TKIs. While ARAF gene amplification is identified as a resistance mechanism that activates MAPK signaling by directly interacting with RAS, little is known about its clinicopathologic characteristics. Methods: We conducted a single-center retrospective analysis of the presence of ARAF amplification in re-biopsied samples in patients with EGFR-mutant NSCLC resistant to EGFR-TKIs. Demographic data, treatment course, and clinical molecular testing reports were extracted from electronic medical records. ARAF amplification was determined using a gene copy number assay. RNA sequence analysis was performed in patients with ARAF amplification as well as presenting histologic transformations to small-cell lung carcinoma (SCLC). Results: ARAF amplification was identified in five of ninety-seven patients resistant to erlotinib or gefitinib, and four of forty-eight patients resistant to Osimertinib. ARAF amplification was dominantly observed in female patients with EGFR exon 19 deletion. All ARAF-amplified tumors retained their founder EGFR mutation and were absent of secondary mutations. Two cases were found where ARAF amplification correlated with a histological transformation to SCLC. Conclusions: ARAF amplification was identified in 5–8% of EGFR-TKI-resistant tumors. The possible roles of ARAF in SCLC transformation warrant further investigation. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

Review

Jump to: Research, Other

24 pages, 1121 KiB

Open AccessReview

γδ T Cells: Game Changers in Immune Cell Therapy for Cancer

by Nabil Subhi-Issa, Daniel Tovar Manzano, Alejandro Pereiro Rodriguez, Silvia Sanchez Ramon, Pedro Perez Segura and Alberto Ocaña

Cancers 2025, 17(7), 1063; https://doi.org/10.3390/cancers17071063 - 21 Mar 2025

Viewed by 791

Abstract

Gamma delta (γδ) T cells are a unique subset of T lymphocytes with distinctive features that make them highly promising candidates for cancer therapy. Their MHC-independent recognition of tumor antigens, ability to mediate direct cytotoxicity, and role in modulating the tumor microenvironment position them as versatile agents in cancer immunotherapy. This review integrates and synthesizes the existing data on γδ T cells, with an emphasis on the development and optimization of in vitro expansion protocols. Critical aspects are detailed such as activation strategies, co-culture systems, cytokine use, and other parameters to ensure robust cell proliferation and functionality, which may be valuable for those developing or optimizing clinical practices. Finally, we discuss current advancements in γδ T cell research, clinical experience, and highlight areas needing further exploration. Considering these data, we hypothesize and propose potential new applications such as engineering γδ T cells for enhanced resistance to immune checkpoint pathways or for localized cytokine delivery within the tumor microenvironment, which could broaden their therapeutic impact in the treatment of cancer and beyond. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

21 pages, 1653 KiB

Open AccessReview

Alternative Splicing at the Crossroad of Inflammatory Bowel Diseases and Colitis-Associated Colon Cancer

by Paulo Matos and Peter Jordan

Cancers 2025, 17(2), 219; https://doi.org/10.3390/cancers17020219 - 11 Jan 2025

Viewed by 1033

Abstract

The risk of developing colorectal cancer (CRC) is increased in ulcerative colitis patients compared to the general population. This increased risk results from the state of chronic inflammation, a well-known tumour-promoting condition. This review explores the pathologic and molecular characteristics of colitis-associated colon cancer (CAC), emphasizing the distinct features from sporadic CRC. We focus on the key signalling pathways involved in the transition to CAC, highlighting the emerging role of alternative splicing in these processes, namely on how inflammation-induced alternative splicing can significantly contribute to the increased CRC risk observed among UC patients. This review calls for more transcriptomic studies to elucidate the molecular mechanisms through which inflammation-induced alternative splicing drives CAC pathogenesis. A better understanding of these splicing events is crucial as they may reveal novel biomarkers for disease progression and have the potential to target changes in alternative splicing as a therapeutic strategy. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

31 pages, 2213 KiB

Open AccessReview

The IL-23R and Its Genetic Variants: A Hitherto Unforeseen Bridge Between the Immune System and Cancer Development

by Salvatore Audia, Carolina Brescia, Vincenzo Dattilo, Naomi Torchia, Francesco Trapasso and Rosario Amato

Cancers 2025, 17(1), 55; https://doi.org/10.3390/cancers17010055 - 27 Dec 2024

Cited by 2 | Viewed by 1635

Abstract

IL-23R (interleukin-23 receptor), found on the surface of several immune cells, plays a key role in the immune system. Indeed, this process is not limited to the inflammatory response but also plays a role in the adaptive immune response. The binding between IL-23R and its specific ligand, the interleukin 23, initiates a number of specific signals by modulating both properties and behavior of immune cells. In particular, it is critical for the regulation of T helper 17 cells (Th17). Th17s are a subset of T cells involved in autoimmune and inflammatory diseases, as well as in cancer. The clinical relevance of IL-23R is underscored by its association with an elevated susceptibility or diminished vulnerability to a spectrum of diseases, including psoriasis, ankylosing spondylitis, and inflammatory bowel disease (IBD). Evidence has emerged that suggests it may also serve to predict both tumor progression and therapeutic responsiveness. It is noteworthy that the IL-23/IL-23R pathway is emerging as a promising therapeutic target. A number of biologic drugs, such as monoclonal antibodies, are currently developing with the aim of blocking this interaction, thus reducing inflammation. This represents a significant advancement in the field of medicine, offering new hope for pursuing more effective and personalized treatments. Recent studies have also investigated the role of such a pathway in autoimmune diseases, and its potential impact on infections as well as in carcinogenesis. The aim of this review is to focus on the role of IL-23R in immune genetics and its potential for modulating the natural history of neoplastic disease. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

17 pages, 1927 KiB

Open AccessReview

Unveiling the HSF1 Interaction Network: Key Regulators of Its Function in Cancer

by Snezhana A. Vladimirova, Nadezhda E. Kokoreva, Irina V. Guzhova, Bashar A. Alhasan, Boris A. Margulis and Alina D. Nikotina

Cancers 2024, 16(23), 4030; https://doi.org/10.3390/cancers16234030 - 30 Nov 2024

Viewed by 1693

Abstract

Heat shock factor 1 (HSF1) plays a central role in orchestrating the heat shock response (HSR), leading to the activation of multiple heat shock proteins (HSPs) genes and approximately thousands of other genes involved in various cellular functions. In cancer cells, HSPs play a particular role in coping with the accumulation of damaged proteins resulting from dysregulated translation and post-translational processes. This proteotoxic stress is a hallmark of cancer cells and causes constitutive activation of HSR. Beyond its role in the HSR, HSF1 regulates diverse processes critical for tumor cells, including proliferation, cell death, and drug resistance. Emerging evidence also highlights HSF1’s involvement in remodeling the tumor immune microenvironment as well as in the maintenance of cancer stem cells. Consequently, HSF1 has emerged as an attractive therapeutic target, prompting the development of specific HSF1 inhibitors that have progressed to clinical trials. Importantly, HSF1 possesses a broad interactome, forming protein–protein interactions (PPIs) with components of signaling pathways, transcription factors, and chromatin regulators. Many of these interactors modulate HSF1’s activity and HSF1-dependent gene expression and are well-recognized targets for cancer therapy. This review summarizes the current knowledge on HSF1 interactions with molecular chaperones, protein kinases, and other regulatory proteins. Understanding the key HSF1 interactions promoting cancer progression, along with identifying factors that disrupt these protein complexes, may offer valuable insights for developing innovative therapeutic strategies against cancer. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

20 pages, 2728 KiB

Open AccessReview

P53 and the Ultraviolet Radiation-Induced Skin Response: Finding the Light in the Darkness of Triggered Carcinogenesis

by Carla Carvalho, Rita Silva, Teresa M. V. D. Pinho e Melo, Alberto Inga and Lucília Saraiva

Cancers 2024, 16(23), 3978; https://doi.org/10.3390/cancers16233978 - 27 Nov 2024

Cited by 3 | Viewed by 1807

Abstract

This review delves into the significant cellular and molecular responses triggered by UVR exposure in human skin, emphasizing the pivotal role of mutant p53 (mutp53) in the carcinogenic process elicited by radiation. By underlining the role of a functional p53 in safeguarding skin cells from UVR-induced damage, this work underscores the potential significance of targeting mutp53, aiming to restore its wild-type-like activity (reactivation), as a protective strategy against skin cancer (SC), particularly NMSC. Most importantly, an interesting crosstalk between p53 and its vitamin D receptor (VDR) transcriptional target is also highlighted in the suppression of skin carcinogenesis, which opens the way to promising chemopreventive strategies involving synergistic combinations between mutp53 reactivators and vitamin D. Collectively, this review not only opens new avenues for future research, but also offers promising prospects for the development of novel beneficial approaches in the field of SC. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

21 pages, 2157 KiB

Open AccessReview

Evaluating the Cellular Roles of the Lysine Acetyltransferase Tip60 in Cancer: A Multi-Action Molecular Target for Precision Oncology

by Nazanin Zohourian, Erin Coll, Muiread Dever, Anna Sheahan, Petra Burns-Lane and James A. L. Brown

Cancers 2024, 16(15), 2677; https://doi.org/10.3390/cancers16152677 - 27 Jul 2024

Cited by 1 | Viewed by 2144

Abstract

Precision (individualized) medicine relies on the molecular profiling of tumors’ dysregulated characteristics (genomic, epigenetic, transcriptomic) to identify the reliance on key pathways (including genome stability and epigenetic gene regulation) for viability or growth, and then utilises targeted therapeutics to disrupt these survival-dependent pathways. Non-mutational epigenetic changes alter cells’ transcriptional profile and are a key feature found in many tumors. In contrast to genetic mutations, epigenetic changes are reversable, and restoring a normal epigenetic profile can inhibit tumor growth and progression. Lysine acetyltransferases (KATs or HATs) protect genome stability and integrity, and Tip60 is an essential acetyltransferase due to its roles as an epigenetic and transcriptional regulator, and as master regulator of the DNA double-strand break response. Tip60 is commonly downregulated and mislocalized in many cancers, and the roles that mislocalized Tip60 plays in cancer are not well understood. Here we categorize and discuss Tip60-regulated genes, evaluate Tip60-interacting proteins based on cellular localization, and explore the therapeutic potential of Tip60-targeting compounds as epigenetic inhibitors. Understanding the multiple roles Tip60 plays in tumorigenesis will improve our understanding of tumor progression and will inform therapeutic options, including informing potential combinatorial regimes with current chemotherapeutics, leading to improvements in patient outcomes. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Figure 1

Other

Jump to: Research, Review

20 pages, 1812 KiB

Open AccessSystematic Review

Prognostic Value of Molecular Aberrations in Low- or Intermediate-Risk Neuroblastomas: A Systematic Review

by Rixt S. Bruinsma, Caroline W. M. Lekkerkerker, Marta Fiocco, Miranda P. Dierselhuis, Karin P. S. Langenberg, Godelieve A. M. Tytgat, Max M. van Noesel, Marc H. W. A. Wijnen, Alida F. W. van der Steeg and Ronald R. de Krijger

Cancers 2025, 17(1), 13; https://doi.org/10.3390/cancers17010013 - 24 Dec 2024

Viewed by 722

Abstract

Background: The 5-year prognosis of non-high-risk neuroblastomas is generally good (>90%). However, a proportion of patients show progression and succumb to their disease. We aimed to identify molecular aberrations (not incorporated in the current risk stratification) associated with overall survival (OS) and/or event-free survival (EFS) in patients diagnosed with non-high-risk neuroblastoma. Methods: We conducted a systematic search in PubMed, Embase, Cochrane and Google Scholar. Two reviewers independently and blindly screened titles/abstracts, references of protocols/reviews and full texts. Risk of bias was assessed using a customized Quality in Prognostic Studies tool. Applicability was assessed using a tool designed by the researchers. GRADE criteria were used to determine quality of evidence. Results: Sixteen studies (4718 patients) were included. A segmental chromosomal aberration (SCA) profile was associated with lower survival. 1p loss of heterozygosity (LOH) and 17q gain were associated with lower OS and EFS. 1p deletion and 2p gain were associated with lower OS, but this was not the same for EFS. 3p deletion was not associated with worse outcome. Quality of evidence was downgraded because of imprecision and publication bias and upgraded because of moderate/large effect, resulting in a moderate quality of evidence. Conclusion: The association of 1p LOH, 1p deletion, 2p gain and 17q gain with OS and EFS suggests that these SCAs may be added to the risk stratification to identify non-high-risk neuroblastomas with worse prognosis. Full article

(This article belongs to the Special Issue Advances in Molecular Oncology and Therapeutics)

► Show Figures

Journal Menu

Journal Browser

Advances in Molecular Oncology and Therapeutics

Share This Special Issue

Special Issue Editors

Special Issue Information

Keywords

Benefits of Publishing in a Special Issue

Published Papers (12 papers)

Research

Review

Other

Further Information

Guidelines

MDPI Initiatives

Follow MDPI