Advances in Pediatric Neuro-Oncology

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 January 2021) | Viewed by 42806

Special Issue Editors


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Guest Editor
Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Interests: pediatric hematology-oncology; pediatric central nervous system tumors; cell and gene therapy; target therapy and immunotherapy; phase I studies; molecular biology; cancer predisposition syndromes
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Guest Editor
Neurosurgery Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
Interests: pediatric neuro-oncology; neurosurgical oncology; minimally invasive neurosurgery; hydrocephalus; intracranial hemorrhage; intraoperative imaging; virtual reality; telemedicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Central nervous system (CNS) tumors constitute the second most common cancer diagnosed worldwide each year in the pediatric population. They account for approximately 25% of childhood malignancies, representing the second leading cause of cancer death in children, adolescents, and young adults less than 20 years of age. In addition, the morbidity associated with CNS tumors and their treatment may significantly impact quality of life and personal achievements of cured patients, conditioning physical deficits, as well as neuropsychological and neuroendocrine sequelae. In the last 20 years, there has been significant progress in molecular knowledge of pediatric CNS tumors. Optimizing the treatment of childhood CNS tumors, therefore, remains a tremendously challenging task, requiring a multidisciplinary approach involving many pediatric specialists, as well as the support of molecular biologists and pharmacologists.

This Special Issue will examine innovative approaches to diagnosis and treat children with CNS tumors.

We welcome the submission of original research articles focusing on the following: (i) advancing new concepts in neurosurgical approach, (ii) neuroradiological novelty, (iii) new potential targeted therapies, (iv) clinical trials, radiotherapy, and proton beam therapy, (v) quality of life during and after treatment, (vi) cancer predisposition syndromes, and (vii) long-term effects of treatments. We welcome the submission of review articles on the use of narrative medicine in pediatric neuro-oncology within this Special Issue.

Dr. Angela Mastronuzzi
Dr. Andrea Carai
Guest Editors

Manuscript Submission Information

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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

  • Pediatric brain tumors
  • Medulloblastoma
  • Low-grade glioma
  • High-grade glioma
  • Craniopharyngioma
  • Diffuse intrinsic pontine glioma
  • Ependymoma
  • Rare brain tumors
  • Secondary malignancies of the brain
  • Neurosurgery
  • Intraoperative imaging
  • Simulation
  • Quality of life

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Published Papers (12 papers)

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Research

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10 pages, 1008 KiB  
Article
Correlation between Pre- and Post-Surgical Findings for Long-Term Neurocognitive and Behaviour Development Due to Posterior Fossa Pilocytic Astrocytomas: The Trend after 10 Years
by Daniela Pia Rosaria Chieffo, Valentina Arcangeli, Federica Moriconi, Camilla Zanetti, Paolo Frassanito, Federico Bianchi, Luca Massimi and Gianpiero Tamburrini
Diagnostics 2021, 11(8), 1489; https://doi.org/10.3390/diagnostics11081489 - 17 Aug 2021
Cited by 4 | Viewed by 1866
Abstract
Objective: The objective of the present study was to selectively evaluate the long-term impact of posterior fossa pilocytic astrocytomas, which are known to be among the most benign forms of paediatric brain tumours on neurocognitive and behavioural functions. Methods: Children that were operated [...] Read more.
Objective: The objective of the present study was to selectively evaluate the long-term impact of posterior fossa pilocytic astrocytomas, which are known to be among the most benign forms of paediatric brain tumours on neurocognitive and behavioural functions. Methods: Children that were operated on for a posterior fossa pilocytic astrocytoma in the Pediatric Neurosurgery Department of the Catholic University Medical School were selected according to the following criteria: (a) age > 5 years (in order to have a complete set of neurocognitive evaluations data), (b) ability to perform a complete set of tests before and after surgery, and (c) children that had a regular follow-up up to 10 years from the surgical treatment. Results: Forty-three percent of the children selected for the present study showed a borderline IQ before surgery, which is a result corresponding to those previously reported in the literature for children affected by posterior fossa pilocytic astrocytomas; praxis and visual perception were the selective functions that were more frequently affected. Language performance tests scores were below average in 40% of the cases but tended to improve in terms of expressive and receptive skills even at the 1-year follow-up; the improvements became significant at the 5-year and 10-year follow-ups. Conclusions: Recognising and measuring the short- and long-term effects of cerebellar tumours in children and their treatment are the first step towards improving their clinical course and quality of life. Early interventions should be offered to all of them, with specific attention bestowed on visual-spatial stimulation, speech and occupational therapies in order to act on praxic and visuo-perceptive skills, as well as on emotion and behaviour tracts of the neurocognitive profile, which more commonly tend to persist in the long term. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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8 pages, 1320 KiB  
Article
Low Detection Rate of H3K27M Mutations in Cerebrospinal Fluid Obtained from Lumbar Puncture in Newly Diagnosed Diffuse Midline Gliomas
by Jotaro On, Manabu Natsumeda, Jun Watanabe, Shoji Saito, Yu Kanemaru, Hideaki Abe, Yoshihiro Tsukamoto, Masayasu Okada, Makoto Oishi, Junichi Yoshimura, Akiyoshi Kakita and Yukihiko Fujii
Diagnostics 2021, 11(4), 681; https://doi.org/10.3390/diagnostics11040681 - 9 Apr 2021
Cited by 9 | Viewed by 2438
Abstract
Recent studies have suggested the feasibility of detecting H3K27M mutations in the cerebrospinal fluid of diffuse midline glioma (DMG) patients. However, cerebrospinal fluid from patients in these studies were collected mainly during biopsy, ventriculo-peritoneal shunt procedures or postmortem. We assessed circulating tumor DNA [...] Read more.
Recent studies have suggested the feasibility of detecting H3K27M mutations in the cerebrospinal fluid of diffuse midline glioma (DMG) patients. However, cerebrospinal fluid from patients in these studies were collected mainly during biopsy, ventriculo-peritoneal shunt procedures or postmortem. We assessed circulating tumor DNA (ctDNA) extracted from cerebrospinal fluid (CSF) and plasma in a series of 12 radiographically suspected and/or pathologically confirmed diffuse midline glioma patients and assessed for H3F3A K27M mutation using digital droplet PCR. In 10 patients, CSF was obtained by lumbar puncture at presentation. A definitive detection of H3F3A K27M mutation was achieved in only one case (10%); H3F3A K27M mutation was suspected in three other cases (30%). H3F3A K27M mutation was detected in two patients in CSF obtained by ventricular tap during a ventriculo-peritoneal shunt for obstructive hydrocephalus. Cases in which a definitive assessment was possible (definite H3F3A K27M or definite H3F3A wildtype) tended to be younger (median 7.5 years vs. 40.5 years; p = 0.07) and have a higher concentration of CSF protein (median 123 mg/dL vs. 27.5 mg/dL; p = 0.21) compared to nondefinite cases. Low proliferation and apoptotic rates seemed to be characteristics of DMG unfavorable for liquid biopsy. More advanced lesions with necrosis and evidence of dissemination were unlikely to be candidates for lumbar puncture due to the fear of exacerbating obstructive hydrocephalus. Methods to safely sample CSF and a more sensitive detection of ctDNA are necessary for reliable liquid biopsy of DMG at presentation. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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26 pages, 5223 KiB  
Article
MB-AI-His: Histopathological Diagnosis of Pediatric Medulloblastoma and its Subtypes via AI
by Omneya Attallah
Diagnostics 2021, 11(2), 359; https://doi.org/10.3390/diagnostics11020359 - 20 Feb 2021
Cited by 46 | Viewed by 3238
Abstract
Medulloblastoma (MB) is a dangerous malignant pediatric brain tumor that could lead to death. It is considered the most common pediatric cancerous brain tumor. Precise and timely diagnosis of pediatric MB and its four subtypes (defined by the World Health Organization (WHO)) is [...] Read more.
Medulloblastoma (MB) is a dangerous malignant pediatric brain tumor that could lead to death. It is considered the most common pediatric cancerous brain tumor. Precise and timely diagnosis of pediatric MB and its four subtypes (defined by the World Health Organization (WHO)) is essential to decide the appropriate follow-up plan and suitable treatments to prevent its progression and reduce mortality rates. Histopathology is the gold standard modality for the diagnosis of MB and its subtypes, but manual diagnosis via a pathologist is very complicated, needs excessive time, and is subjective to the pathologists’ expertise and skills, which may lead to variability in the diagnosis or misdiagnosis. The main purpose of the paper is to propose a time-efficient and reliable computer-aided diagnosis (CADx), namely MB-AI-His, for the automatic diagnosis of pediatric MB and its subtypes from histopathological images. The main challenge in this work is the lack of datasets available for the diagnosis of pediatric MB and its four subtypes and the limited related work. Related studies are based on either textural analysis or deep learning (DL) feature extraction methods. These studies used individual features to perform the classification task. However, MB-AI-His combines the benefits of DL techniques and textural analysis feature extraction methods through a cascaded manner. First, it uses three DL convolutional neural networks (CNNs), including DenseNet-201, MobileNet, and ResNet-50 CNNs to extract spatial DL features. Next, it extracts time-frequency features from the spatial DL features based on the discrete wavelet transform (DWT), which is a textural analysis method. Finally, MB-AI-His fuses the three spatial-time-frequency features generated from the three CNNs and DWT using the discrete cosine transform (DCT) and principal component analysis (PCA) to produce a time-efficient CADx system. MB-AI-His merges the privileges of different CNN architectures. MB-AI-His has a binary classification level for classifying among normal and abnormal MB images, and a multi-classification level to classify among the four subtypes of MB. The results of MB-AI-His show that it is accurate and reliable for both the binary and multi-class classification levels. It is also a time-efficient system as both the PCA and DCT methods have efficiently reduced the training execution time. The performance of MB-AI-His is compared with related CADx systems, and the comparison verified the powerfulness of MB-AI-His and its outperforming results. Therefore, it can support pathologists in the accurate and reliable diagnosis of MB and its subtypes from histopathological images. It can also reduce the time and cost of the diagnosis procedure which will correspondingly lead to lower death rates. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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Review

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25 pages, 9442 KiB  
Review
Intradural Pediatric Spinal Tumors: An Overview from Imaging to Novel Molecular Findings
by Antonio Marrazzo, Antonella Cacchione, Sabrina Rossi, Alessia Carboni, Carlo Gandolfo, Andrea Carai, Angela Mastronuzzi and Giovanna Stefania Colafati
Diagnostics 2021, 11(9), 1710; https://doi.org/10.3390/diagnostics11091710 - 18 Sep 2021
Cited by 14 | Viewed by 9116
Abstract
Pediatric spinal tumors are rare and account for 10% of all central nervous system tumors in children. Onset usually occurs with chronic nonspecific symptoms and may depend on the intra- or extradural neoplastic location. Meningiomas, schwannomas, and neurofibromas are the most common intradural-extramedullary [...] Read more.
Pediatric spinal tumors are rare and account for 10% of all central nervous system tumors in children. Onset usually occurs with chronic nonspecific symptoms and may depend on the intra- or extradural neoplastic location. Meningiomas, schwannomas, and neurofibromas are the most common intradural-extramedullary lesions, while astrocytomas and ependymomas represent the majority of intramedullary tumors. The new molecular discoveries regarding pediatric spinal cancer currently contribute to the diagnostic and therapeutic processes. Moreover, some familial genetic syndromes can be associated with the development of spinal tumors. Currently, magnetic resonance imaging (MRI) is the standard reference for the evaluation of pediatric spinal tumors. Our aim in this review was to describe the imaging of the most frequent intradural intra/extramedullary pediatric spinal tumors and to investigate the latest molecular findings and genetic syndromes. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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12 pages, 5108 KiB  
Review
Infantile Brain Tumors: A Review of Literature and Future Perspectives
by Valeria Simone, Daniela Rizzo, Alessandro Cocciolo, Anna Maria Caroleo, Andrea Carai, Angela Mastronuzzi and Assunta Tornesello
Diagnostics 2021, 11(4), 670; https://doi.org/10.3390/diagnostics11040670 - 8 Apr 2021
Cited by 6 | Viewed by 3348
Abstract
Brain tumors in infants including those diagnosed in fetal age, newborns and under a year old represent less than 10% of pediatric nervous system tumors and present differently when compared with older children in terms of clinical traits, location and histology. The most [...] Read more.
Brain tumors in infants including those diagnosed in fetal age, newborns and under a year old represent less than 10% of pediatric nervous system tumors and present differently when compared with older children in terms of clinical traits, location and histology. The most frequent clinical finding is a macrocephaly but non-specific symptoms can also be associated. The prognosis is usually poor and depends on several factors. Surgery continues to be the main option in terms of therapeutic strategies whereas the role of chemotherapy is not yet well defined and radiotherapy is exceptionally undertaken. In view of this situation, a molecular characterization could assist in providing therapeutic options for these tumors. This review highlights the recent advances in the diagnosis and treatment of brain tumors in infants with a particular focus on the molecular landscape and future clinical applications. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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18 pages, 4806 KiB  
Review
Recent Advances in Understanding the Role of Autophagy in Paediatric Brain Tumours
by Francesca Gatto, Giacomo Milletti, Andrea Carai, Angela Mastronuzzi and Francesca Nazio
Diagnostics 2021, 11(3), 481; https://doi.org/10.3390/diagnostics11030481 - 9 Mar 2021
Cited by 6 | Viewed by 3647
Abstract
Autophagy is a degradative process occurring in eukaryotic cells to maintain homeostasis and cell survival. After stressful conditions including nutrient deprivation, hypoxia or drugs administration, autophagy is induced to counteract pathways that could lead to cell death. In cancer, autophagy plays a paradoxical [...] Read more.
Autophagy is a degradative process occurring in eukaryotic cells to maintain homeostasis and cell survival. After stressful conditions including nutrient deprivation, hypoxia or drugs administration, autophagy is induced to counteract pathways that could lead to cell death. In cancer, autophagy plays a paradoxical role, acting both as tumour suppressor—by cleaning cells from damaged organelles and inhibiting inflammation or, alternatively, by promoting genomic stability and tumour adaptive response—or as a pro-survival mechanism to protect cells from stresses such as chemotherapy. Neural-derived paediatric solid tumours represent a variety of childhood cancers with unique anatomical location, cellular origins, and clinical presentation. These tumours are a leading cause of morbidity and mortality among children and new molecular diagnostics and therapies are necessary for longer survival and reduced morbidity. Here, we review advances in our understanding of how autophagy modulation exhibits antitumor properties in experimental models of paediatric brain tumours, i.e., medulloblastoma (MB), ependymoma (EPN), paediatric low-grade and high-grade gliomas (LGGs, HGGs), atypical teratoid/rhabdoid tumours (ATRTs), and retinoblastoma (RB). We also discuss clinical perspectives to consider how targeting autophagy may be relevant in these specific paediatric tumours. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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11 pages, 633 KiB  
Review
Infantile/Congenital High-Grade Gliomas: Molecular Features and Therapeutic Perspectives
by Giulia Ceglie, Maria Vinci, Andrea Carai, Sabrina Rossi, Giovanna Stefania Colafati, Antonella Cacchione, Assunta Tornesello, Evelina Miele, Franco Locatelli and Angela Mastronuzzi
Diagnostics 2020, 10(9), 648; https://doi.org/10.3390/diagnostics10090648 - 28 Aug 2020
Cited by 16 | Viewed by 3288
Abstract
Brain tumors in infants account for less than 10% of all pediatric nervous system tumors. They include tumors diagnosed in fetal age, neonatal age and in the first years of life. Among these, high-grade gliomas (HGGs) are a specific entity with a paradoxical [...] Read more.
Brain tumors in infants account for less than 10% of all pediatric nervous system tumors. They include tumors diagnosed in fetal age, neonatal age and in the first years of life. Among these, high-grade gliomas (HGGs) are a specific entity with a paradoxical clinical course that sets them apart from their pediatric and adult counterparts. Currently, surgery represents the main therapeutic strategy in the management of these tumors. Chemotherapy does not have a well-defined role whilst radiotherapy is rarely performed, considering its late effects. Information about molecular characterization is still limited, but it could represent a new fundamental tool in the therapeutic perspective of these tumors. Chimeric proteins derived from the fusion of several genes with neurotrophic tyrosine receptor kinase mutations have been described in high-grade gliomas in infants as well as in neonatal age and the recent discovery of targeted drugs may change the long-term prognosis of these tumors, along with other target-driven therapies. The aim of this mini review is to highlight the recent advances in the diagnosis and treatment of high-grade gliomas in infants with a particular focus on the molecular landscape of these neoplasms and future clinical applications. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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Other

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8 pages, 3340 KiB  
Case Report
Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome
by Mariachiara Lodi, Antonio Marrazzo, Antonella Cacchione, Marina Macchiaiolo, Antonino Romanzo, Luciano Mastronardi, Francesca Diomedi-Camassei, Alessia Carboni, Andrea Carai, Carlo Gandolfo, Lidia Monti, Angela Mastronuzzi and Giovanna Stefania Colafati
Diagnostics 2021, 11(6), 1005; https://doi.org/10.3390/diagnostics11061005 - 31 May 2021
Cited by 3 | Viewed by 2577
Abstract
Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). [...] Read more.
Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60–80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10–15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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10 pages, 5382 KiB  
Case Report
Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review
by Marco Ranalli, Alessandra Boni, Anna Maria Caroleo, Giada Del Baldo, Martina Rinelli, Emanuele Agolini, Sabrina Rossi, Evelina Miele, Giovanna Stefania Colafati, Luigi Boccuto, Iside Alessi, Maria Antonietta De Ioris, Antonella Cacchione, Rossella Capolino, Andrea Carai, Sabina Vennarini and Angela Mastronuzzi
Diagnostics 2021, 11(4), 647; https://doi.org/10.3390/diagnostics11040647 - 2 Apr 2021
Cited by 2 | Viewed by 2383
Abstract
Brain tumors are the most common solid neoplasms of childhood. They are frequently reported in children with Neurofibromatosis type 1 (NF1). The most frequent central nervous system malignancies described in NF1 are optic pathway gliomas and brainstem gliomas. Medulloblastoma (MB) in NF1 patients [...] Read more.
Brain tumors are the most common solid neoplasms of childhood. They are frequently reported in children with Neurofibromatosis type 1 (NF1). The most frequent central nervous system malignancies described in NF1 are optic pathway gliomas and brainstem gliomas. Medulloblastoma (MB) in NF1 patients is extremely rare, and to our knowledge, only 10 cases without molecular characterization are described in the literature to date. We report the case of a 14-year-old girl with NF1 that came to our attention for an incidental finding of a lesion arising from cerebellar vermis. The mass was completely resected, revealing a localized classic medulloblastoma (MB), subgroup 4. She was treated as a standard-risk MB with a dose-adapted personalized protocol. The treatment proved to be effective, with minor toxicity. Brain and spine MRI one year after diagnosis confirmed the complete remission of the disease. To our knowledge, this is the only case of MB reported in a patient with NF1 with molecular characterization by the methylation profile. The association between NF1 and MB, although uncommon, may not be an accidental occurrence. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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11 pages, 1860 KiB  
Case Report
Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis
by Alessandra Boni, Marco Ranalli, Giada Del Baldo, Roberto Carta, Mariachiara Lodi, Emanuele Agolini, Martina Rinelli, Diletta Valentini, Sabrina Rossi, Viola Alesi, Antonella Cacchione, Evelina Miele, Iside Alessi, Anna Maria Caroleo, Giovanna Stefania Colafati, Maria Antonietta De Ioris, Luigi Boccuto, Mario Balducci, Andrea Carai and Angela Mastronuzzi
Diagnostics 2021, 11(2), 254; https://doi.org/10.3390/diagnostics11020254 - 7 Feb 2021
Cited by 3 | Viewed by 2541
Abstract
Down syndrome (DS) is the most common chromosome abnormality with a unique cancer predisposition syndrome pattern: a higher risk to develop acute leukemia and a lower incidence of solid tumors. In particular, brain tumors are rarely reported in the DS population, and biological [...] Read more.
Down syndrome (DS) is the most common chromosome abnormality with a unique cancer predisposition syndrome pattern: a higher risk to develop acute leukemia and a lower incidence of solid tumors. In particular, brain tumors are rarely reported in the DS population, and biological behavior and natural history are not well described and identified. We report a case of a 10-year-old child with DS who presented with a medulloblastoma (MB). Histological examination revealed a classic MB with focal anaplasia and the molecular profile showed the presence of a CTNNB1 variant associated with the wingless (WNT) molecular subgroup with a good prognosis in contrast to our case report that has shown an early metastatic relapse. The nearly seven-fold decreased risk of MB in children with DS suggests the presence of protective biological mechanisms. The cerebellum hypoplasia and the reduced volume of cerebellar granule neuron progenitor cells seem to be a possible favorable condition to prevent MB development via inhibition of neuroectodermal differentiation. Moreover, the NOTCH/WNT dysregulation in DS, which is probably associated with an increased risk of leukemia, suggests a pivotal role of this pathway alteration in the pathogenesis of MB; therefore, this condition should be further investigated in future studies by molecular characterizations. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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6 pages, 627 KiB  
Interesting Images
Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1
by Antonella Cacchione, Alessia Carboni, Mariachiara Lodi, Rita De Vito, Andrea Carai, Antonio Marrazzo, Marina Macchiaiolo, Ioan Paul Voicu, Angela Mastronuzzi and Giovanna Stefania Colafati
Diagnostics 2021, 11(2), 218; https://doi.org/10.3390/diagnostics11020218 - 2 Feb 2021
Cited by 3 | Viewed by 2411
Abstract
We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, [...] Read more.
We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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11 pages, 1284 KiB  
Case Report
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature
by Mariachiara Lodi, Luigi Boccuto, Andrea Carai, Antonella Cacchione, Evelina Miele, Giovanna Stefania Colafati, Francesca Diomedi Camassei, Luca De Palma, Alessandro De Benedictis, Elisabetta Ferretti, Giuseppina Catanzaro, Agnese Pò, Alessandro De Luca, Martina Rinelli, Francesca Romana Lepri, Emanuele Agolini, Marco Tartaglia, Franco Locatelli and Angela Mastronuzzi
Diagnostics 2020, 10(8), 582; https://doi.org/10.3390/diagnostics10080582 - 12 Aug 2020
Cited by 21 | Viewed by 4390
Abstract
Noonan syndrome (NS) is a congenital autosomic dominant condition characterized by a variable spectrum from a clinical and genetical point of view. Germline mutations in more than ten genes involved in RAS–MAPK signal pathway have been demonstrated to cause the disease. An higher [...] Read more.
Noonan syndrome (NS) is a congenital autosomic dominant condition characterized by a variable spectrum from a clinical and genetical point of view. Germline mutations in more than ten genes involved in RAS–MAPK signal pathway have been demonstrated to cause the disease. An higher risk for leukemia and solid malignancies, including brain tumors, is related to NS. A review of the published literature concerning low grade gliomas (LGGs) in NS is presented. We described also a 13-year-old girl with NS associated with a recurrent mutation in PTPN11, who developed three different types of brain tumors, i.e., an optic pathway glioma, a glioneuronal neoplasm of the left temporal lobe and a cerebellar pilocytic astrocytoma. Molecular characterization of the glioneuronal tumor allowed to detect high levels of phosphorylated MTOR (pMTOR); therefore, a therapeutic approach based on an mTOR inhibitor (everolimus) was elected. The treatment was well tolerated and proved to be effective, leading to a stabilization of the tumor, which was surgical removed. The positive outcome of the present case suggests considering this approach for patients with RASopathies and brain tumors with hyperactivated MTOR signaling. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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