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Personalized Treatment Approaches for Paediatric Tumours of the Central Nervous...
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Personalized Treatment Approaches for Paediatric Tumours of the Central Nervous System

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (15 May 2022) | Viewed by 10816

Special Issue Editor

Dr. Brona M. Murphy

E-Mail Website
Guest Editor
Department of Physiology and Medical Physics, Royal College of Surgeons in Ireland, 31A York Street, Dublin D02, Ireland
Interests: glioblastoma; medulloblastoma; CDK inhibitors; BH3 mimetics; systems modelling

Special Issue Information

Dear Colleagues,

Paediatric central nervous system (CNS) tumours encompass a wide variety of diagnoses, from benign to malignant. Any CNS tumour can be associated with significant morbidity, even when low grade and CNS tumours represent the deadliest cancer in paediatric patients. As paediatric malignancies occur early in life, they result in a tremendous loss of quality-adjusted-life-years both from death and from poor quality of life, due to the disabling consequences of treatment in surviving patients. This Special Issue will focus on novel personalized treatment approaches to treat paediatric CNS tumours, which should improve the quality of life for patients with these tumours.

Dr. Brona M. Murphy
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. Journal of Personalized Medicine is an international peer-reviewed open access monthly 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

  • paediatric tumours
  • central nervous system
  • novel treatment options
  • improved outcomes and quality of life

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Published Papers (3 papers)

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Review

21 pages, 664 KiB  
Review
The Current State of Radiotherapy for Pediatric Brain Tumors: An Overview of Post-Radiotherapy Neurocognitive Decline and Outcomes
by Nicholas Major, Neal A. Patel, Josiah Bennett, Ena Novakovic, Dana Poloni, Mickey Abraham, Nolan J. Brown, Julian L. Gendreau, Ronald Sahyouni and Joshua Loya
J. Pers. Med. 2022, 12(7), 1050; https://doi.org/10.3390/jpm12071050 - 27 Jun 2022
Cited by 12 | Viewed by 2893
Abstract
Tumors of the central nervous system are the most common solid malignancies diagnosed in children. While common, they are also found to have some of the lowest survival rates of all malignancies. Treatment of childhood brain tumors often consists of operative gross total [...] Read more.
Tumors of the central nervous system are the most common solid malignancies diagnosed in children. While common, they are also found to have some of the lowest survival rates of all malignancies. Treatment of childhood brain tumors often consists of operative gross total resection with adjuvant chemotherapy or radiotherapy. The current body of literature is largely inconclusive regarding the overall benefit of adjuvant chemo- or radiotherapy. However, it is known that both are associated with conditions that lower the quality of life in children who undergo those treatments. Chemotherapy is often associated with nausea, emesis, significant fatigue, immunosuppression, and alopecia. While radiotherapy can be effective for achieving local control, it is associated with late effects such as endocrine dysfunction, secondary malignancy, and neurocognitive decline. Advancements in radiotherapy grant both an increase in lifetime survival and an increased lifetime for survivors to contend with these late effects. In this review, the authors examined all the published literature, analyzing the results of clinical trials, case series, and technical notes on patients undergoing radiotherapy for the treatment of tumors of the central nervous system with a focus on neurocognitive decline and survival outcomes. Full article
(This article belongs to the Special Issue Personalized Treatment Approaches for Paediatric Tumours of the Central Nervous System)
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11 pages, 8593 KiB  
Review
Endogenous Retroviral Elements in Human Development and Central Nervous System Embryonal Tumors
by Tara T. Doucet-O’Hare, Jared S. Rosenblum, Ashish H. Shah, Mark R. Gilbert and Zhengping Zhuang
J. Pers. Med. 2021, 11(12), 1332; https://doi.org/10.3390/jpm11121332 - 8 Dec 2021
Cited by 2 | Viewed by 3132
Abstract
Human endogenous retroviruses (HERVs), which are critical to normal embryologic development and downregulated during normal maturation, have been implicated in a variety of cancers. Abnormal persistent production of HERVs has been suggested to play a role in oncogenesis and to confer stem cell [...] Read more.
Human endogenous retroviruses (HERVs), which are critical to normal embryologic development and downregulated during normal maturation, have been implicated in a variety of cancers. Abnormal persistent production of HERVs has been suggested to play a role in oncogenesis and to confer stem cell properties to cells. We recently demonstrated that the most recently incorporated HERV element (HERV-K HML-2) has been associated with the pathogenesis of the embryonal atypical teratoid rhabdoid tumor (AT/RT), shifting our understanding of embryonal tumor development. HML-2 expression is vital for proper human development and its expression is suppressed via methylation or chromatin remodeling as cells differentiate. We previously found that dysfunctional chromatin remodeling due to loss of SMARCB1 expression induces HML-2 envelope (env) expression, impairing cellular differentiation and migration, and facilitating tumor growth in AT/RT. Epigenetic dysregulation in other embryonal tumors with concomitant expression of stem-cell markers may facilitate HML-2 expression. Future studies could utilize HML-2 as potential diagnostic criteria, use its expression as a treatment biomarker, and investigate the efficacy of therapies targeting cells with high HML-2 expression. Full article
(This article belongs to the Special Issue Personalized Treatment Approaches for Paediatric Tumours of the Central Nervous System)
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39 pages, 4029 KiB  
Review
Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma
by Cristina Ilcus, Horatiu Silaghi, Carmen Emanuela Georgescu, Carmen Georgiu, Anca Ileana Ciurea, Simona Delia Nicoara and Cristina Alina Silaghi
J. Pers. Med. 2021, 11(7), 661; https://doi.org/10.3390/jpm11070661 - 14 Jul 2021
Cited by 11 | Viewed by 4010
Abstract
Intracranial germinomas are rare tumours, usually affecting male paediatric patients. They frequently develop in the pineal and suprasellar regions, causing endocrinological disturbances, visual deficits, and increased intracranial pressure. The diagnosis is established on magnetic resonance imaging (MRI), serum and cerebrospinal fluid (CSF) markers, [...] Read more.
Intracranial germinomas are rare tumours, usually affecting male paediatric patients. They frequently develop in the pineal and suprasellar regions, causing endocrinological disturbances, visual deficits, and increased intracranial pressure. The diagnosis is established on magnetic resonance imaging (MRI), serum and cerebrospinal fluid (CSF) markers, and tumour stereotactic biopsy. Imaging techniques, such as susceptibility-weighted imaging (SWI), T2* (T2-star) gradient echo (GRE) or arterial spin labelling based perfusion-weighted MRI (ASL-PWI) facilitate the diagnosis. Germinomas are highly radiosensitive tumours, with survival rates >90% in the context of chemoradiotherapy. However, patients with resistant disease have limited therapeutic options and poor survival. The aim of this review is to highlight the genetic, epigenetic, and immunologic features, which could provide the basis for targeted therapy. Intracranial germinomas present genetic and epigenetic alterations (chromosomal aberrations, KIT, MAPK and PI3K pathways mutations, DNA hypomethylation, miRNA dysregulation) that may represent targets for therapy. Tyrosine kinase and mTOR inhibitors warrant further investigation in these cases. Immune markers, PD-1 (programmed cell death protein 1) and PD-L1 (programmed death-ligand 1), are expressed in germinomas, representing potential targets for immune checkpoint inhibitors. Resistant cases should benefit from a personalized management: genetic and immunological testing and enrolment in trials evaluating targeted therapies in intracranial germinomas. Full article
(This article belongs to the Special Issue Personalized Treatment Approaches for Paediatric Tumours of the Central Nervous System)
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