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Diagnostics
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Medulloblastoma—Existing and Evolving Landscape
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Medulloblastoma—Existing and Evolving Landscape

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

Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 9434

Special Issue Editor

Dr. Tejpal Gupta

E-Mail Website
Guest Editor
Tata Memorial Centre, HBNI, Mumbai, Maharashtra, India
Interests: pediatric neuro-oncology; high-precision radiotherapy; clinical trials; survivorship

Special Issue Information

Dear Colleagues,

Recent advances in diagnostic imaging, pathology, molecular biology, neurosurgery, radiation therapy, and systemic therapy have vastly improved the outlook for medulloblastoma, the most common malignant brain tumor in children, making it the exemplar of pediatric neuro-oncology. Modern multi-modality treatment provides cure in a substantial proportion of patients; however, such cure comes at the cost of significant treatment-related toxicities, paving the way for risk-adapted treatment approaches for the optimization of outcomes.

In view of persistent chronic health conditions with consequent effects on quality of life in long-term survivors, recent efforts have focused on the de-escalation of therapy in children with favorable biology disease. In parallel, children with unfavorable biology disease continue to experience relapse despite aggressive multi-modality therapies, prompting further intensification of treatment and/or the identification of newer targets for the improvement of survival.

This Special Issue on medulloblastoma will provide a broad overview on diagnostic imaging, including the evolving role of radiomics/radiogenomics; discuss the basic pathology and molecular biology of the disease, including contemporary risk stratification; summarize the existing evidence base for current standard-of-care therapy; and navigate through the clinical trial landscape based on molecular subgrouping for the optimization of therapy, which should enhance the scientific and clinical knowledge of interested readers.

Dr. Tejpal Gupta
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

  • medulloblastoma
  • molecular subgrouping
  • risk stratification
  • radiation therapy
  • chemotherapy
  • survivorship

Published Papers (7 papers)

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Editorial

Jump to: Research, Review

5 pages, 438 KiB  
Editorial
Existing and Evolving Landscape of Medulloblastoma: Towards Optimization and Personalization
by Tejpal Gupta and Abhishek Chatterjee
Diagnostics 2024, 14(6), 598; https://doi.org/10.3390/diagnostics14060598 - 12 Mar 2024
Viewed by 667
Abstract
Advances in diagnostic imaging, pathology, and molecular biology coupled with improvements in neurosurgical approaches, radiotherapeutic techniques, and systemic therapies over the last two decades have vastly improved survival outcomes for medulloblastoma, the most common childhood malignant tumor [...] Full article
(This article belongs to the Special Issue Medulloblastoma—Existing and Evolving Landscape)
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Research

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15 pages, 1008 KiB  
Article
Clinico-Radiological Outcomes in WNT-Subgroup Medulloblastoma
by Shakthivel Mani, Abhishek Chatterjee, Archya Dasgupta, Neelam Shirsat, Akash Pawar, Sridhar Epari, Ayushi Sahay, Arpita Sahu, Aliasgar Moiyadi, Maya Prasad, Girish Chinnaswamy and Tejpal Gupta
Diagnostics 2024, 14(4), 358; https://doi.org/10.3390/diagnostics14040358 - 7 Feb 2024
Viewed by 918
Abstract
Medulloblastoma (MB) comprises four broad molecular subgroups, namely wingless (WNT), sonic hedgehog (SHH), Group 3, and Group 4, respectively, with subgroup-specific developmental origins, unique genetic profiles, distinct clinico-demographic characteristics, and diverse clinical outcomes. This is a retrospective audit of clinical outcomes in molecularly [...] Read more.
Medulloblastoma (MB) comprises four broad molecular subgroups, namely wingless (WNT), sonic hedgehog (SHH), Group 3, and Group 4, respectively, with subgroup-specific developmental origins, unique genetic profiles, distinct clinico-demographic characteristics, and diverse clinical outcomes. This is a retrospective audit of clinical outcomes in molecularly confirmed WNT-MB patients treated with maximal safe resection followed by postoperative standard-of-care risk-stratified adjuvant radio(chemo)therapy at a tertiary-care comprehensive cancer centre. Of the 74 WNT-MB patients registered in a neuro-oncology unit between 2004 to 2020, 7 patients accrued on a prospective clinical trial of treatment deintensification were excluded, leaving 67 patients that constitute the present study cohort. The median age at presentation was 12 years, with a male preponderance (2:1). The survival analysis was restricted to 61 patients and excluded 6 patients (1 postoperative mortality plus 5 without adequate details of treatment or outcomes). At a median follow-up of 72 months, Kaplan–Meier estimates of 5-year progression-free survival and overall survival were 87.7% and 91.2%, respectively. Traditional high-risk features, large residual tumour (≥1.5 cm2), and leptomeningeal metastases (M+) did not significantly impact upon survival in this molecularly characterized WNT-MB cohort treated with risk-stratified contemporary multimodality therapy. The lack of a prognostic impact of conventional high-risk features suggests the need for refined risk stratification and potential deintensification of therapy. Full article
(This article belongs to the Special Issue Medulloblastoma—Existing and Evolving Landscape)
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17 pages, 2349 KiB  
Article
Successful Implementation of Image-Guided Pencil-Beam Scanning Proton Therapy in Medulloblastomas
by Anindita Das, Utpal Gaikwad, Ganapathy Krishnan, Adhithyan Rajendran, Sushama Patil, Preethi Subramaniam, Uday Krishna, Manoj G. Wakde, Srinivas Chilukuri and Rakesh Jalali
Diagnostics 2023, 13(21), 3378; https://doi.org/10.3390/diagnostics13213378 - 3 Nov 2023
Viewed by 959
Abstract
Medulloblastoma is the most common malignant brain tumour in children, while much rarer in adults. Although the prognosis and outcomes have greatly improved in the era of modern multidisciplinary management, long-term treatment-induced toxicities are common. Craniospinal irradiation followed by a boost to the [...] Read more.
Medulloblastoma is the most common malignant brain tumour in children, while much rarer in adults. Although the prognosis and outcomes have greatly improved in the era of modern multidisciplinary management, long-term treatment-induced toxicities are common. Craniospinal irradiation followed by a boost to the primary and metastatic tumour sites forms the backbone of treatment. Proton therapy has been endorsed over conventional photon-based radiotherapy due to its superior dosimetric advantages and subsequently lower incidence and severity of toxicities. We report here our experience from South-East Asia’s first proton therapy centre of treating 40 patients with medulloblastoma (38 children and adolescents, 2 adults) who received image-guided, intensity-modulated proton therapy with pencil-beam scanning between 2019 and 2023, with a focus on dosimetry, acute toxicities, and early survival outcomes. All patients could complete the planned course of proton therapy, with mostly mild acute toxicities that were manageable on an outpatient basis. Haematological toxicity was not dose-limiting and did not prolong the overall treatment time. Preliminary data on early outcomes including overall survival and disease-free survival are encouraging, although a longer follow-up and data on long-term toxicities are needed. Full article
(This article belongs to the Special Issue Medulloblastoma—Existing and Evolving Landscape)
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Review

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18 pages, 317 KiB  
Review
Evolution of Systemic Therapy in Medulloblastoma Including Irradiation-Sparing Approaches
by Naureen Mushtaq, Rahat Ul Ain, Syed Ahmer Hamid and Eric Bouffet
Diagnostics 2023, 13(24), 3680; https://doi.org/10.3390/diagnostics13243680 - 16 Dec 2023
Cited by 1 | Viewed by 1408
Abstract
The management of medulloblastoma in children has dramatically changed over the past four decades, with the development of chemotherapy protocols aiming at improving survival and reducing long-term toxicities of high-dose craniospinal radiotherapy. While the staging and treatment of medulloblastoma were until recently based [...] Read more.
The management of medulloblastoma in children has dramatically changed over the past four decades, with the development of chemotherapy protocols aiming at improving survival and reducing long-term toxicities of high-dose craniospinal radiotherapy. While the staging and treatment of medulloblastoma were until recently based on the modified Chang’s system, recent advances in the molecular biology of medulloblastoma have revolutionized approaches in the management of this increasingly complex disease. The evolution of systemic therapies is described in this review. Full article
(This article belongs to the Special Issue Medulloblastoma—Existing and Evolving Landscape)
19 pages, 4109 KiB  
Review
Opportunities and Advances in Radiomics and Radiogenomics for Pediatric Medulloblastoma Tumors
by Marwa Ismail, Stephen Craig, Raheel Ahmed, Peter de Blank and Pallavi Tiwari
Diagnostics 2023, 13(17), 2727; https://doi.org/10.3390/diagnostics13172727 - 22 Aug 2023
Cited by 1 | Viewed by 1253
Abstract
Recent advances in artificial intelligence have greatly impacted the field of medical imaging and vastly improved the development of computational algorithms for data analysis. In the field of pediatric neuro-oncology, radiomics, the process of obtaining high-dimensional data from radiographic images, has been recently [...] Read more.
Recent advances in artificial intelligence have greatly impacted the field of medical imaging and vastly improved the development of computational algorithms for data analysis. In the field of pediatric neuro-oncology, radiomics, the process of obtaining high-dimensional data from radiographic images, has been recently utilized in applications including survival prognostication, molecular classification, and tumor type classification. Similarly, radiogenomics, or the integration of radiomic and genomic data, has allowed for building comprehensive computational models to better understand disease etiology. While there exist excellent review articles on radiomics and radiogenomic pipelines and their applications in adult solid tumors, in this review article, we specifically review these computational approaches in the context of pediatric medulloblastoma tumors. Based on our systematic literature research via PubMed and Google Scholar, we provide a detailed summary of a total of 15 articles that have utilized radiomic and radiogenomic analysis for survival prognostication, tumor segmentation, and molecular subgroup classification in the context of pediatric medulloblastoma. Lastly, we shed light on the current challenges with the existing approaches as well as future directions and opportunities with using these computational radiomic and radiogenomic approaches for pediatric medulloblastoma tumors. Full article
(This article belongs to the Special Issue Medulloblastoma—Existing and Evolving Landscape)
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10 pages, 263 KiB  
Review
Current Strategies for Management of Medulloblastoma
by Michael D. Prados
Diagnostics 2023, 13(16), 2622; https://doi.org/10.3390/diagnostics13162622 - 8 Aug 2023
Viewed by 1427
Abstract
Medulloblastoma (MB) is the most common malignant central nervous system tumor of childhood, which includes multiple molecular subgroups (4) and subtypes (8 to 12), each with different outcomes and potential therapy options. Long-term survival remains poor for many of the subtypes, with high [...] Read more.
Medulloblastoma (MB) is the most common malignant central nervous system tumor of childhood, which includes multiple molecular subgroups (4) and subtypes (8 to 12), each with different outcomes and potential therapy options. Long-term survival remains poor for many of the subtypes, with high late mortality risks and poor health-related quality of life. Initial treatment strategies integrate molecular subgroup information with more standard clinical and phenotypic factors to risk stratify newly diagnosed patients. Clinical trials treating relapsed disease, often incurable, now include multiple new approaches in an attempt to improve progression-free and overall survival. Full article
(This article belongs to the Special Issue Medulloblastoma—Existing and Evolving Landscape)
25 pages, 1601 KiB  
Review
Exploring the Molecular Complexity of Medulloblastoma: Implications for Diagnosis and Treatment
by Julian S. Rechberger, Stephanie A. Toll, Wouter J. F. Vanbilloen, David J. Daniels and Soumen Khatua
Diagnostics 2023, 13(14), 2398; https://doi.org/10.3390/diagnostics13142398 - 18 Jul 2023
Cited by 4 | Viewed by 2184
Abstract
Medulloblastoma is the most common malignant brain tumor in children. Over the last few decades, significant progress has been made in revealing the key molecular underpinnings of this disease, leading to the identification of distinct molecular subgroups with different clinical outcomes. In this [...] Read more.
Medulloblastoma is the most common malignant brain tumor in children. Over the last few decades, significant progress has been made in revealing the key molecular underpinnings of this disease, leading to the identification of distinct molecular subgroups with different clinical outcomes. In this review, we provide an update on the molecular landscape of medulloblastoma and treatment strategies. We discuss the four main molecular subgroups (WNT-activated, SHH-activated, and non-WNT/non-SHH groups 3 and 4), highlighting the key genetic alterations and signaling pathways associated with each entity. Furthermore, we explore the emerging role of epigenetic regulation in medulloblastoma and the mechanism of resistance to therapy. We also delve into the latest developments in targeted therapies and immunotherapies. Continuing collaborative efforts are needed to further unravel the complex molecular mechanisms and profile optimal treatment for this devastating disease. Full article
(This article belongs to the Special Issue Medulloblastoma—Existing and Evolving Landscape)
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