Anomalous vascularization in a Wnt medulloblastoma: a case report

Giannatale, Angela Di; Carai, Andrea; Cacchione, Antonella; Marrazzo, Antonio; Dell’Anna, Vito Andrea; Colafati, Giovanna Stefania; Diomedi-Camassei, Francesca; Miele, Evelina; Pò, Agnese; Ferretti, Elisabetta; Locatelli, Franco; Mastronuzzi, Angela

doi:10.1186/s12883-016-0632-1

Cited by 9 publications

(10 citation statements)

References 22 publications

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“…Intriguingly, human DDX3X mut WNT-medulloblastoma cells also upregulated cerebellar granule NPC markers, including NEUROD1, PAX6, ATAD2 and BAZ1A that were upregulated in mWnt;Ddx3x Flx/Y mouse cerebellar tumors (FDR=1.0e-4; Figure 4B and 6B). Thus, as suggested by recent imaging of human tumors (Di Giannatale et al, 2016), a small fraction of human DDX3X mut WNT-medulloblastomas might arise within the cerebellar granule NPC lineage.…”

Section: Stress Signaling In Ddx3x Mutant Human Wnt-medulloblastomasmentioning

confidence: 89%

DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma

et al. 2020

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DDX3X is frequently mutated in the WNT and SHH subtypes of medulloblastomathe commonest malignant childhood brain tumor. But whether DDX3X functions as a medulloblastoma oncogene or tumor suppressor gene is not known. Here, we show that Ddx3x regulates hindbrain patterning and development by controlling Hox gene expression and cell stress signaling. In mice predisposed to Wnt or Shhmedulloblastoma, Ddx3x sensed oncogenic stress and suppressed tumor formation. WNT and SHHmedulloblastomas normally arise only in the lower and upper rhombic lips, respectively. Deletion of Ddx3x removed this lineage restriction, enabling both medulloblastoma subtypes to arise in either germinal zone.Thus, DDX3X is a medulloblastoma tumor suppressor that regulates hindbrain development and restricts the competence of cell lineages to form medulloblastoma subtypes.

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Section: Stress Signaling In Ddx3x Mutant Human Wnt-medulloblastomasmentioning

confidence: 89%

DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma

et al. 2020

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“… 24 However, the biological effect of Wnt/β-catenin signaling activation and the link with a better prognosis have not yet been fully clarified. 25 Monosomy 6 is the main recurrent structural chromosomic alteration (80–85%), usually found in an otherwise balanced genome. The next most common mutations are in DDX3X gene (with a possible role in β-catenin activation 26 ) and the missense mutations in TP53 (15% of cases), that, despite being a marker of high risk in the SHH subgroup, does not confer difference in survival for WNT patients.…”

Section: Molecular Characterization Of Medulloblastoma Subgroupsmentioning

confidence: 99%

MRI features as a helpful tool to predict the molecular subgroups of medulloblastoma: state of the art

Colafati

Voicu

Carducci

et al. 2018

Ther Adv Neurol Disord

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Medulloblastoma is the most common malignant pediatric brain tumor. Medulloblastoma should not be viewed as a single disease, but as a heterogeneous mixture of various subgroups with distinct characteristics. Based on genomic profiles, four distinct molecular subgroups are identified: Wingless (WNT), Sonic Hedgehog (SHH), Group 3 and Group 4. Each of these subgroups are associated with specific genetic aberrations, typical age of onset as well as survival prognosis. Magnetic resonance imaging (MRI) is performed for all patients with brain tumors, and has a key role in the diagnosis, surgical guidance and follow up of patients with medulloblastoma. Several studies indicate MRI as a promising tool for early detection of medulloblastoma subgroups. The early identification of the subgroup can influence the extent of surgical resection, radiotherapy and chemotherapy targeted treatments. In this article, we review the state of the art in MRI-facilitated medulloblastoma subgrouping, with a summary of the main MRI features in medulloblastoma and a brief discussion on molecular characterization of medulloblastoma subgroups. The main focus of the article is MRI features that correlate with medulloblastoma subtypes, as well as features suggestive of molecular subgroups. Finally, we briefly discuss the latest trends in MRI studies and latest developments in molecular characterization.

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“…Increased proliferation of endothelial cells and fewer tight junctions observed in tumor tissue prompt structurally and functionally aberrant blood vessels observed clinically, which can contribute to heterogeneous distribution of drugs 88–93 . Blood vessels can vary among tumor subtypes due to endothelial cell hyperplasia, glomeruloid clusters, and spatial organization 73,94,95 .…”

Section: Drug Penetration Barriersmentioning

confidence: 99%

Drug penetration in pediatric brain tumors: Challenges and opportunities

Patel

Spiller

Barker

2021

Pediatric Blood & Cancer

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Larger clinical trial enrollments and a greater understanding of biological heterogeneity have led to improved survival rates for children diagnosed with brain tumors in the last 50 years. However, reducing long‐term morbidities and improving survival rates of high‐risk tumors remain major challenges. Chemotherapy can reduce tumor burden, but effective drug penetration at the tumor site is limited by barriers in the route of drug administration and within the tumor microenvironment. Bioavailability of drugs is impeded by the blood‐brain barrier, plasma protein binding, and structural components by the tumor including the matrix and vasculature contributing to increased interstitial fluid pressure, hypoxia, and acidity. Designing drug delivery systems to circumvent these barriers could lead to improved drug penetration at the tumor site and reduce adverse systemic side effects. In this review, we expand on how systemic and local barriers limit drug penetration and present potential methods to enhance drug penetration in pediatric brain tumors.

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Anomalous vascularization in a Wnt medulloblastoma: a case report

Cited by 9 publications

References 22 publications

DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma

DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma

MRI features as a helpful tool to predict the molecular subgroups of medulloblastoma: state of the art

Drug penetration in pediatric brain tumors: Challenges and opportunities

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