Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with caf é-au-lait spots

We report the case of a boy, who was born to consanguineous parents. Prominently, he had multiple café-au-lait spots. At the age of 3 years he was diagnosed with a high-risk metastatic medulloblastoma. The patient died only 11 months after diagnosis of a fulminant relapse presenting as meningeal and spinal dissemination. Whole-exome sequencing of germline DNA was employed to detect the underlying mutation for this putative cancer syndrome presenting with the combination of medulloblastoma and skin alterations. After screening all possible homozygous gene SNVs, we identified a mutation ofSON, an essential protein in cell cycle regulation and cell proliferation, as the most likely genetic cause.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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A drug used to treat chronic myeloid leukemia appears to be more effective at stopping a type of medulloblastoma in mouse models than existing treatments for the deadly pediatric brain tumor, reports a multi-institutional team led by researchers at Skaggs School of Pharmacy and Pharmaceutical Sciences at University of California San Diego.
Source: World Pharma News - Category: Pharmaceuticals Tags: Featured Research Research and Development Source Type: news
(St. Jude Children's Research Hospital) Investigators at St. Jude Children's Research Hospital and Massachusetts General Hospital, alongside others, have revealed the cells of origin for specific subtypes of medulloblastoma, the most common malignant pediatric brain tumor. The work also has implications for how medulloblastoma is classified, which may eventually shape clinical care. The work appears as an advance online publication today in Nature.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
In conclusion, we have shown the safety and efficacy of Vemurafenib in a pediatric patient with DS affected by PXA. Ethics Statement This study was carried out in accordance with the recommendations of the Internal Review Board of the Bambino Gesù Children's Hospital with written informed consent from all subjects. All subjects gave written informed consent in accordance with the Declaration of Helsinki. The protocol was approved by the Internal Review Board of the Bambino Gesù Children's Hospital. Informed Consent The authors declare that written informed consent was obtained from the pat...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Medulloblastoma (MB) is the most common malignant brain tumor of childhood. Although outcomes have improved in recent decades, new treatments are still needed to improve survival and reduce treatment-related complications. The MB subtypes groups 3 and 4 represent a particular challenge due to their intragroup heterogeneity, which limits the options for "rational" targeted therapies. Here, we report a systems biology approach to drug repositioning that integrates a nonparametric, bootstrapping-based simulated annealing algorithm and a 3D drug functional network to characterize dysregulated driver signaling network...
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
Brain tumors are the most common solid tumor among children under 15, representing 20% of childhood cancers. Prognosis and therapeutic options vary dramatically based on histologic and molecular profiles. We have studied 222 brain tumors using the CHOP Comprehensive Solid Tumor Panel, which interrogates 238 cancer genes and 110 fusion partners. The most common tumors are pilocytic/pilomyxoid astrocytoma (67), medulloblastoma (23) and diffuse midline glioma (17). Clinically significant genomic alterations were identified in 93% of patients.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
Authors: Miranda Kuzan-Fischer C, Juraschka K, Taylor MD Abstract Medulloblastoma is the most common malignant brain tumor of childhood and remains a major cause of cancer related mortality in children. Significant scientific advancements have transformed the understanding of medulloblastoma, leading to the recognition of four distinct clinical and molecular subgroups, namely wingless (WNT), sonic hedgehog, group 3, and group 4. Subgroup classification combined with the recognition of subgroup specific molecular alterations has also led to major changes in risk stratification of medulloblastoma patients and these c...
Source: Journal of Korean Neurosurgical Society - Category: Neurosurgery Tags: J Korean Neurosurg Soc Source Type: research
(German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ)) An international team of researchers from the Hopp Children's Cancer Center at the NCT Heidelberg (KiTZ), the European Molecular Biology Laboratory (EMBL) and the German Cancer Consortium (DKTK) together with colleagues at the St. Jude Children's Research Hospital in Memphis and the Hospital for Sick Children in Toronto has summarized hereditary gene defects which can trigger the development of certain malignant brain tumors (medulloblastoma). From their findings, the team has derived recommendations for routine genetic screening in medulloblastoma patients.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
In conclusion, we identify SNCA as a novel diagnostic biomarker for Group 4 medulloblastoma. Some other subgroup signature genes have also been found as candidate therapeutic targets for this tumor. This article is protected by copyright. All rights reserved.
Source: Cancer Science - Category: Cancer & Oncology Authors: Tags: Original Article Source Type: research
(Queen Mary University of London) A new weakness found in medulloblastoma, the most common form of childhood brain tumor, could lead to more personalized medicine and improved treatment for some patients, according to an early study by Queen Mary University of London.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
Publication date: Available online 20 October 2017 Source:Trends in Pharmacological Sciences Author(s): Vinod Kumar, Virender Kumar, Timothy McGuire, Donald W. Coulter, John G. Sharp, Ram I. Mahato Medulloblastoma (MB) is the most common childhood brain tumor, which occurs in the posterior fossa. MB tumors are highly heterogeneous and have diverse genetic make-ups, with differential microRNA (miRNA) expression profiles and variable prognoses. MB can be classified into four subgroups, each with different origins, pathogenesis, and potential therapeutic targets. miRNA and small-molecule targeted therapies have emerged as a ...
Source: Trends in Pharmacological Sciences - Category: Drugs & Pharmacology Source Type: research
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