Histology and Molecular Pathology of Pediatric Brain Tumors

Pfister, Stefan M.; Hartmann, Christian; Korshunov, Andrey

doi:10.1177/0883073809339213

Cited by 52 publications

(30 citation statements)

References 53 publications

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“…Medulloblastoma is the commonest malignant brain tumor in childhood accounting for approximately 20% of all primary brain tumors between 0 and 14 years of age [1]. It is a primitive neuroectodermal tumor that arises in the posterior fossa and there are five histological sub-groups recognised by the World Health Organisation 2007; classic, anaplastic, large cell, desmoplastic/nodular and medulloblastoma with extensive nodularity (MBEN) [2,3].…”

Section: Introductionmentioning

confidence: 99%

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma

et al. 2010

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PTCH1 and SUFU are both regulators of the sonic hedgehog signalling pathway. Germline inactivating mutations in both genes are associated with multisystem phenotypes including medulloblastoma. Somatic inactivating mutations in PTCH1 and SUFU each occur in approximately 10% of medulloblastomas. Recently, SUFU mutations were reported in familial medulloblastoma pedigrees without additional phenotypic features. We sought to further investigate the contribution of germline PTCH1 and SUFU mutations to familial and sporadic medulloblastoma. We performed full-gene mutational analysis of both PTCH1 and SUFU in three familial medulloblastoma pedigrees and 83 individuals with sporadic non-familial medulloblastoma. We identified no mutations in PTCH1 or SUFU in the three familial medulloblastoma pedigrees. We identified no PTCH1 mutations and two SUFU mutations that cause premature protein truncating in the series of sporadic non-familial medulloblastomas. The SUFU mutations were identified in two of the 16 individuals with desmoplastic medulloblastomas. These data indicate that familial medulloblastoma is a genetically heterogeneous disorder with at least one further susceptibility gene to be discovered. Furthermore, although both PTCH1 and SUFU play a key role in the sonic hedgehog signalling pathway, PTCH1 does not make an appreciable contribution to non-familial sporadic medulloblastoma, whereas inactivating germline mutations of SUFU cause ~2-3% of sporadic medulloblastomas and > 10% of desmoplastic medulloblastomas.

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Section: Introductionmentioning

confidence: 99%

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma

et al. 2010

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“…Differentiating low-from high-grade brain tumors without the use of invasive biopsy is important to optimize patient management strategies and determine the time point when benign tumors begin to transform into malignant lesions so that timely interventions can be applied without unnecessarily compromising patients' quality of life. Unlike lowgrade brain tumors, high-grade tumors (eg, medulloblastoma and anaplastic ependymoma) can have a higher degree of tissue heterogeneity, a characteristic that may not be adequately captured in a simple ADC value obtained from a monoexponential diffusion model (12,27).…”

Section: Patientsmentioning

confidence: 99%

Differentiation of Low- and High-Grade Pediatric Brain Tumors with Highb-Value Diffusion-weighted MR Imaging and a Fractional Order Calculus Model

Sui¹,

Wang

Liu

et al. 2015

Radiology

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).q RSNA, 2015 Purpose:To demonstrate that a new set of parameters (D, b, and m) from a fractional order calculus (FROC) diffusion model can be used to improve the accuracy of MR imaging for differentiating among low-and high-grade pediatric brain tumors. Materials and Methods:The institutional review board of the performing hospital approved this study, and written informed consent was obtained from the legal guardians of pediatric patients. Multi-b-value diffusion-weighted magnetic resonance (MR) imaging was performed in 67 pediatric patients with brain tumors. Diffusion coefficient D, fractional order parameter b (which correlates with tissue heterogeneity), and a microstructural quantity m were calculated by fitting the multi-b-value diffusion-weighted images to an FROC model. D, b, and m values were measured in solid tumor regions, as well as in normal-appearing gray matter as a control. These values were compared between the lowand high-grade tumor groups by using the Mann-Whitney U test. The performance of FROC parameters for differentiating among patient groups was evaluated with receiver operating characteristic (ROC) analysis. Results:None of the FROC parameters exhibited significant differences in normal-appearing gray matter (P  .24), but all showed a significant difference (P , . Conclusion:The FROC parameters can be used to differentiate between low-and high-grade pediatric brain tumor groups. The combination of FROC parameters or individual parameters may serve as in vivo, noninvasive, and quantitative imaging markers for classifying pediatric brain tumors.q RSNA, 2015

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“…116,155 The main treatment for these tumors remains resection, followed by radiation therapy, with a 5-year survival rate between 39% and 64%. 154 The 2007 WHO classification recognizes 3 grades of ependymal tumors but the distinction between Grades 2 (classical) and 3 (anaplastic) remains difficult with an unclear association with patient outcome.…”

Section: Ependymomamentioning

confidence: 99%

Epigenetic mechanisms regulating neural development and pediatric brain tumor formation

Faria

Rutka

Smith

et al. 2011

PED

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Pediatric brain tumors are the leading cause of cancer-related death in children, and among them, embryonal tumors represent the largest group with an associated poor prognosis and long-term morbidity for survivors. The field of cancer epigenetics has emerged recently as an important area of investigation and causation of a variety of neoplasms, and is defined as alterations in gene expression without changes in DNA sequence. The best studied epigenetic modifications are DNA methylation, histone modifications, and RNA-based mechanisms. These modifications play an important role in normal development and differentiation but their dysregulation can lead to altered gene function and cancer. In this review the authors describe the mechanisms of normal epigenetic regulation, how they interplay in neuroembryogenesis, and how these can cause brain tumors in children when dysregulated. The potential use of epigenetic markers to design more effective treatment strategies for children with malignant brain tumors is also discussed.

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Histology and Molecular Pathology of Pediatric Brain Tumors

Cited by 52 publications

References 53 publications

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma

Differentiation of Low- and High-Grade Pediatric Brain Tumors with Highb-Value Diffusion-weighted MR Imaging and a Fractional Order Calculus Model

Epigenetic mechanisms regulating neural development and pediatric brain tumor formation

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