Search Our Scientific Publications & Authors

J Neurosurg Pediatr 2019 Feb 15:1-9. Epub 2019 Feb 15.

3Cancer Research Program, Research Institute of the McGill University Health Center and Department of Surgery, McGill University, Montreal, Quebec, Canada.

Leptomeningeal dissemination (LMD) is the defining pattern of metastasis for medulloblastoma. Although LMD is responsible for virtually 100% of medulloblastoma deaths, it remains the least well-understood part of medulloblastoma pathogenesis. The fact that medulloblastomas rarely metastasize outside the CNS but rather spread almost exclusively to the spinal and intracranial leptomeninges has fostered the long-held belief that medulloblastoma cells spread directly through the CSF, not the bloodstream. Read More

Nat Rev Dis Primers 2019 Feb 14;5(1):12. Epub 2019 Feb 14.

Nat Rev Dis Primers 2019 Feb 14;5(1):11. Epub 2019 Feb 14.

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.

Medulloblastoma (MB) comprises a biologically heterogeneous group of embryonal tumours of the cerebellum. Four subgroups of MB have been described (WNT, sonic hedgehog (SHH), Group 3 and Group 4), each of which is associated with different genetic alterations, age at onset and prognosis. These subgroups have broadly been incorporated into the WHO classification of central nervous system tumours but still need to be accounted for to appropriately tailor disease risk to therapy intensity and to target therapy to disease biology. Read More

Acta Oncol 2019 Feb 13:1-8. Epub 2019 Feb 13.

f Center for Particle Therapy , Aarhus University Hospital , Aarhus , Denmark.

Background: The extent of radiation therapy (RT)-induced changes in cognitive function is unknown. RT with protons instead of photons spares the healthy brain tissue more and is believed to reduce the risk of cognitive dysfunction. There is modest knowledge on which parts of the brain we need to spare, to prevent cognitive dysfunction. Read More

Cells 2019 Feb 11;8(2). Epub 2019 Feb 11.

Department of Molecular Medicine, Sapienza University, 00161 Rome, Italy.

Hedgehog (Hh) signaling is a critical developmental regulator and its aberrant activation,due to somatic or germline mutations of genes encoding pathway components, causes Basal CellCarcinoma (BCC) and medulloblastoma (MB). A growing effort has been devoted at theidentification of druggable vulnerabilities of the Hedgehog signaling, leading to the identificationof various compounds with variable efficacy and/or safety. Emerging evidence shows that anaberrant polyamine metabolism is a hallmark of Hh-dependent tumors and that itspharmacological inhibition elicits relevant therapeutic effects in clinical or preclinical models ofBCC and MB. Read More

Clin Neuroradiol 2019 Feb 7. Epub 2019 Feb 7.

Department of Neuropathology, Medical Centre-University of Freiburg, University of Freiburg, Freiburg, Germany.

Sci Rep 2019 Feb 7;9(1):1603. Epub 2019 Feb 7.

Philips Research, High Tech Campus 11, 5656 AE, Eindhoven, The Netherlands.

Signal transduction pathways are important in physiology and pathophysiology. Targeted drugs aim at modifying pathogenic pathway activity, e.g. Read More

J Neuroradiol 2019 Feb 4. Epub 2019 Feb 4.

Grenoble Institute of Neurosciences, INSERM U836, Grenoble, France; University Grenoble Alps, Grenoble, France; UMS IRMaGe, Grenoble, France; Department of Pediatrics, Bordeaux University Hospital, Bordeaux, France; Department of Neuroradiology and MRI, Grenoble University Hospital, Grenoble, France. Electronic address:

Introduction: Medulloblastoma is the most common malignant cerebral tumor during childhood, arising in the posterior fossa. Children treated for medulloblastoma often experience working memory (WM) deficits, affecting their quality of life and school performance. The aim of the present study undertaken to describe the cerebellar involvement in WM deficits observed in these children. Read More

J Clin Oncol 2019 Feb 7:JCO1800969. Epub 2019 Feb 7.

3 St. Jude Children's Research Hospital, Memphis, TN.

Purpose: Treatment of medulloblastoma has evolved from surgery and radiotherapy to contemporary multimodal regimens. However, the impact on long-term health outcomes remains unknown.

Methods: Cumulative incidence of late mortality (5 or more years from diagnosis), subsequent neoplasms (SNs), and chronic health conditions were evaluated in the Childhood Cancer Survivor Study among 5-year survivors of medulloblastoma diagnosed between 1970 and 1999. Read More

Childs Nerv Syst 2019 Feb 6. Epub 2019 Feb 6.

Department of Pediatric Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Purpose: To establish some explicit, feasible, and reproducible predictors for CMS.

Materials And Methods: This study was a retrospective case study. Data were obtained from 82 patients with medulloblastoma at a single center, Beijing Tiantan Hospital. Read More

Australas Phys Eng Sci Med 2019 Feb 6. Epub 2019 Feb 6.

Medical Physics & Radiation Engineering, Canberra Hospital, Garran, ACT, Australia.

Cranio-spinal irradiation (CSI) is widely used for treating medulloblastoma cases in children. Radiation-induced second malignancy is of grave concern; especially in children due to their long-life expectancy and higher radiosensitivity of tissues at young age. Several techniques can be employed for CSI including 3DCRT, IMRT, VMAT and tomotherapy. Read More

J Neurooncol 2019 Feb 6. Epub 2019 Feb 6.

Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.

Purpose: Pediatric brain cancer medulloblastoma (MB) standard-of-care results in numerous comorbidities. MB is comprised of distinct molecular subgroups. Group 3 molecular subgroup patients have the highest relapse rates and after standard-of-care have a 20% survival. Read More

Adv Anat Pathol 2019 Feb 1. Epub 2019 Feb 1.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

As genomic characterization becomes increasingly necessary for accurate diagnosis of tumors of the central nervous system, identification of rapidly assessible biomarkers is equally important to avoid excessive cost and delay in initiation of therapy. This article reviews novel immunohistochemical markers that may be used to determine mutation status, activation of signaling pathways, druggable targets, and cell lineage in many diverse tumor types. In particular, recently added entities to the 2016 WHO classification of central nervous system tumors will be addressed, including IDH-mutant gliomas, diffuse midline glioma, epithelioid glioblastoma, angiocentric glioma, RELA-rearranged ependymoma, embryonal tumors (medulloblastoma, atypical teratoid/rhabdoid tumor, pineoblastoma, embryonal tumor with multilayered rosettes, and other genetically defined high-grade neuroepithelial tumors), and meningiomas associated with germline alterations. Read More

Bioinformatics 2019 Feb 1. Epub 2019 Feb 1.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

Motivation: Medulloblastoma (MB) is a brain cancer predominantly arising in children. Roughly 70% of patients are cured today, but survivors often suffer from severe sequelae. MB has been extensively studied by molecular profiling, but often in small and scattered cohorts. Read More

Childs Nerv Syst 2019 Feb 1. Epub 2019 Feb 1.

Department of Pediatric Oncology, Hospital Universitario Niño Jesús, Avenida Menendez Pelayo, 65, 28009, Madrid, Spain.

Medulloblastoma is the most common malignant brain tumor in children. Approximately 30% of children with medulloblastoma will progress or relapse despite being treated. New therapies have been proposed in recent years, including high-dose chemotherapy, immunotherapy, and targeted therapy. Read More

J Clin Invest 2019 Feb 1;129(2):465-475. Epub 2019 Feb 1.

Department of Biochemistry and Biophysics, UCSF, San Francisco, California, USA.

The Hedgehog pathway is critical for the development of diverse organs. Misactivation of the Hedgehog pathway can cause developmental abnormalities and cancers, including medulloblastoma, the most common pediatric brain tumor, and basal cell carcinoma, the most common cancer in the United States. Here, we review how basic, translational, and clinical studies of the Hedgehog pathway have helped reveal how cells communicate, how intercellular communication controls development, how signaling goes awry to cause cancer, and how to use targeted molecular agents to treat both inherited and sporadic cancers. Read More

Cancer Epidemiol 2019 Jan 28;59:71-74. Epub 2019 Jan 28.

Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA; Texas Children's Cancer and Hematology Centers, Houston, TX, USA. Electronic address:

Introduction: Methylation-derived neutrophil-to-lymphocyte ratio (mdNLR) has been identified as a potential prognostic biomarker of outcomes in various cancers. We evaluated the prognostic value of blood-derived mdNLR within a retrospective cohort of pediatric medulloblastoma patients.

Materials And Methods: DNA methylation was measured in archival peripheral blood samples collected on 56 pediatric medulloblastoma patients. Read More

Int J Mol Sci 2019 Jan 28;20(3). Epub 2019 Jan 28.

Department of Pharmacology, University of California, San Diego, La Jolla, CA 92093, USA.

GPR68 (or ovarian cancer G protein-coupled receptor 1, OGR1) is a proton-sensing G-protein-coupled receptor (GPCR) that responds to extracellular acidity and regulates a variety of cellular functions. Acidosis is considered a defining hallmark of the tumor microenvironment (TME). GPR68 expression is highly upregulated in numerous types of cancer. Read More

Dev Cell 2019 Jan;48(2):184-199.e5

Institut Curie, PSL Research University, CNRS UMR 3347, INSERM U1021, Orsay 91405, France; Université Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay 91405, France. Electronic address:

During cerebellar development, granule neuron progenitors (GNPs) proliferate by transducing Sonic Hedgehog (SHH) signaling via the primary cilium. Precise regulation of ciliogenesis, thus, ensures proper GNP pool expansion. Here, we report that Atoh1, a transcription factor required for GNPs formation, controls the presence of primary cilia, maintaining GNPs responsiveness to SHH. Read More

Dev Cell 2019 Jan;48(2):131-132

Division of Regenerative Medicine, Department of Medicine, University of California, San Diego, CA 92037, USA. Electronic address:

Pediatric tumors have enriched the understanding of germline genotype contribution to tumorigenesis. In this issue of Developmental Cell, Yin et al. (2018) describe genetic models of Sonic Hedgehog (SHH) subgroup of medulloblastoma with SUFU alterations, painting more nuanced roles for SUFU in tumorigenesis and maintenance of Gli2 transcription factor circuitries. Read More

Dev Cell 2019 Jan;48(2):129-130

Department of Pediatrics, Emory University, Atlanta, GA 303022, USA. Electronic address:

In the developing cerebellum, Sonic hedgehog (SHH) signaling is required for expansion of cerebellar granule neural progenitors, proposed to be cells-of-origin for the SHH-driven pediatric brain tumor medulloblastoma. In this issue of Developmental Cell, Chang et al. (2019) show that the transcription factor Atoh1/MATH1 regulates primary cilium formation, enabling SHH signaling. Read More

Pediatr Blood Cancer 2019 Jan 28:e27625. Epub 2019 Jan 28.

Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Hospital of Geneva, Geneva, Switzerland.

Noonan syndrome (NS) is an autosomal dominant disorder commonly caused by PTPN11 germline mutations. Patients are characterized by short stature, congenital heart defects, facial dysmorphism, and increased risk of malignancies including brain tumors. Commonly associated brain tumors are dysembryoplastic neuroepithelial tumor and low-grade glioma. Read More

Mol Cell Biol 2019 Jan 28. Epub 2019 Jan 28.

Department of Pediatric Oncology, Emory University School of Medicine, Atlanta, Georgia, USA

Cerebellar development is a highly regulated process involving numerous factors acting with high specificity, both temporally and by location. Part of this process involves extensive proliferation of cerebellar granule neuron precursors (CGNPs) induced by Sonic Hedgehog (SHH) signaling, but downstream effectors of mitogenic signaling are still being elucidated. Using primary CGNP cultures, a well-established model for SHH-driven proliferation, we show that SHH-treated CGNPs feature high levels of Hypoxia-Inducible Factor-1-Alpha (HIF1α), which is known to promote glycolysis, stemness, and angiogenesis. Read More

Cancers (Basel) 2019 Jan 26;11(2). Epub 2019 Jan 26.

Division of Pharmacy, College of Health and Medicine, University of Tasmania, Hobart, Tasmania 7001, Australia.

Calcium signaling, in addition to its numerous physiological roles, is also implicated in several pathological conditions including cancer. An increasing body of evidence suggest critical roles of calcium signaling in the promotion of different aspects of cancer, including cell proliferation, therapy resistance and metastatic-related processes. In many cases, this is associated with altered expression and/or activity of some calcium channels and pumps. Read More

J Pediatr Hematol Oncol 2018 Oct 23. Epub 2018 Oct 23.

Departments of Neurosciences.

Successful use of immune checkpoint inhibitors in a variety of cancers has generated interest in using this approach in pediatric brain tumors. We performed a retrospective review of 10 consecutive children (6 boys, 4 girls; ages, 2 to 17 y), with recurrent or refractory pediatric brain tumors (5 high-grade glioma, 1 low-grade glioma, pineoblastoma, medulloblastoma, ependymoma, and CNS embryonal tumor, NOS) treated at Rady Children's Hospital San Diego from 2015 to 2017 with the immune checkpoint inhibitor nivolumab (3 mg/kg every 2 wk). Eight of 10 patients received prior chemotherapy and 9 radiation therapy. Read More

Fam Cancer 2019 Jan 24. Epub 2019 Jan 24.

Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation therapy and chemotherapy. Read More

Asian Pac J Cancer Prev 2019 Jan 25;20(1):221-227. Epub 2019 Jan 25.

Department of Cellular-Molecular Biology, Faculty of Biological Sciences and Technologies, Shahid Beheshti University. Tehran, Iran. Email:

Introduction: One of the major challenges in cancer treatment is the lack of specific and accurate treatment in cancer. Data analysis can help to understand the underlying molecular mechanism that leads to better treatment. Increasing availability and reliability of DNA microarray data leads to increase the use of these data in a variety of cancers. Read More

Cancer Res 2019 Jan 23. Epub 2019 Jan 23.

Department of Pediatrics, University of Minnesota

Medulloblastoma and central nervous system primitive neuroectodermal tumors (CNS-PNET) are aggressive, poorly differentiated brain tumors with limited effective therapies. Using Sleeping Beauty (SB) transposon mutagenesis, we identified novel genetic drivers of medulloblastoma and CNS-PNET. Cross-species gene expression analyses classified SB-driven tumors into distinct medulloblastoma and CNS-PNET subgroups, indicating they resemble human SHH and group 3 and 4 medulloblastoma and CNS neuroblastoma with FOXR2 activation. Read More

Sci Signal 2019 Jan 22;12(565). Epub 2019 Jan 22.

Department of Pediatrics, University of Texas, MD Anderson Cancer Center, Houston, TX 77030, USA.

In medulloblastomas (MBs), the expression and activity of RE1-silencing transcription factor (REST) is increased in tumors driven by the sonic hedgehog (SHH) pathway, specifically the SHH-α (children 3 to 16 years) and SHH-β (infants) subgroups. Neuronal maturation is greater in SHH-β than SHH-α tumors, but both correlate with poor overall patient survival. We studied the contribution of REST to MB using a transgenic mouse model ( ) wherein conditional -controlled transgene expression in lineage-committed cerebellar granule neuron progenitors (CGNPs) accelerated tumorigenesis and increased penetrance and infiltrative disease. Read More

Nat Commun 2019 01 18;10(1):332. Epub 2019 Jan 18.

Tumor Initiation and Maintenance Program, NCI-Designated Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, 92037, USA.

Drugs that modify the epigenome are powerful tools for treating cancer, but these drugs often have pleiotropic effects, and identifying patients who will benefit from them remains a major clinical challenge. Here we show that medulloblastomas driven by the transcription factor Gfi1 are exquisitely dependent on the enzyme lysine demethylase 1 (Kdm1a/Lsd1). We demonstrate that Lsd1 physically associates with Gfi1, and that these proteins cooperate to inhibit genes involved in neuronal commitment and differentiation. Read More

PLoS One 2019 18;14(1):e0210665. Epub 2019 Jan 18.

Department of Neurosurgery, McKnight Brain Institute, University of Florida, Gainesville, Florida, United States of America.

High morbidity and mortality are common traits of malignant tumours and identification of the cells responsible is a focus of on-going research. Many studies are now reporting the use of antibodies specific to Clusters of Differentiation (CD) cell surface antigens to identify tumour-initiating cell (TIC) populations in neural tumours. Medulloblastoma is one of the most common malignant brain tumours in children and despite a considerable amount of research investigating this tumour, the identity of the TICs, and the means by which such cells can be targeted remain largely unknown. Read More

Clin Case Rep 2019 Jan 19;7(1):94-99. Epub 2018 Nov 19.

Small Animal Hospital, School of Veterinary Medicine, College of Medical Veterinary and Life Sciences University of Glasgow Glasgow UK.

Reports of medulloblastoma in cattle are scarce; however, this neoplasm should be included as a differential diagnosis in cases of cerebellar or central vestibular signs in young cattle. The MRI appearance of the medulloblastoma reported here, previously unreported in cattle, consisted of a T1-weighted hypointense and T2-weighted heterogeneously hyperintense intra-axial mass. Read More

Biologics 2019 3;13:13-21. Epub 2019 Jan 3.

Pediatric Gastroenterology and Liver Unit, Sapienza University of Rome, Rome, Italy.

Background: Adalimumab (Ada) treatment is an available option for pediatric Crohn's disease (CD) and the published experience as rescue therapy is limited.

Objectives: We investigated Ada efficacy in a retrospective, pediatric CD cohort who had failed previous infliximab treatment, with a minimum follow-up of 6 months.

Methods: In this multicenter study, data on demographics, clinical activity, growth, laboratory values (CRP) and adverse events were collected from CD patients during follow-up. Read More

Sci Rep 2019 Jan 17;9(1):166. Epub 2019 Jan 17.

Lodz University of Technology, Faculty of Chemistry, Institute of Applied Radiation Chemistry, Laboratory of Laser Molecular Spectroscopy, Wroblewskiego 15, 93-590, Lodz, Poland.

We have shown that Raman microspectroscopy is a powerful method for visualization of glycocalyx offering cellular interrogation without staining, unprecedented spatial and spectral resolution, and biochemical information. We showed for the first time that Raman imaging can be used to distinguish successfully between glycosylated and nonglycosylated proteins in normal and cancer tissue. Thousands of protein, lipid and glycan species exist in cells and tissues and their metabolism is monitored via numerous pathways, networks and methods. Read More

Clin Cancer Res 2019 Jan 17. Epub 2019 Jan 17.

Stanford Cancer Institute and Departments of Pediatrics and Medicine, Stanford University

Purpose: Patients with relapsed pediatric solid tumors and CNS malignancies have few therapeutic options and frequently die of their disease. Chimeric antigen receptor (CAR) T cells have shown tremendous success in treating relapsed pediatric acute lymphoblastic leukemia, but this has not yet translated to treating solid tumors. This is partially due to a paucity of differentially expressed cell surface molecules on solid tumors that can be safely targeted. Read More

Clin Oncol (R Coll Radiol) 2019 Mar 14;31(3):171-181. Epub 2019 Jan 14.

Department of Oncology, Cambridge University Hospitals NHS Trust, Cambridge, UK. Electronic address:

Radiotherapy is an essential element in the multidisciplinary management of children with medulloblastoma and postoperative craniospinal axis radiotherapy is considered to be the cornerstone of curative treatment. With modern multidisciplinary management, more than 80% of children with standard-risk medulloblastoma and up to 70% of children with high-risk medulloblastoma are long-term survivors. Current clinical trials are evaluating risk-adapted radiotherapy in standard-risk medulloblastoma to reduce long-term sequelae, whereas the research approach in high-risk medulloblastoma is to improve clinical outcome with dose-intensification of chemotherapy and the use of hyperfractionated radiotherapy regimens. Read More

Turk Neurosurg 2018 Sep 25. Epub 2018 Sep 25.

Faculty of Medicine,Cairo University.

Aim: Traditionally, the fourth ventricle is approached via the cerebellar vermis. The approach via the telovelar fold (telovelar approach) has been designed to avoid neural tissue damage. Here we describe our institution's experience with the telovelar approach as well as factors governing radicality and outcome. Read More

Pan Afr Med J 2018 24;30:291. Epub 2018 Aug 24.

Service d'Anatomie Pathologique, CHU Mohammed VI, Hôpital Arrazi, Marrakech, Maroc.

Brain tumors are the most diagnosed solid tumors in children under the age of 15 years worldwide. However, the epidemiological and anatomopathological profile of these tumors has been poorly described in African and, particularly, in Moroccan literature. This study highlights the epidemiological and anatomopathological peculiarities of primary brain tumors in children living in the region of Marrakech (south Morocco). Read More

Neuropathology 2019 Jan 10. Epub 2019 Jan 10.

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

MYC amplification is common in Group 3 medulloblastoma and is associated with poor survival. Group 3 and Group 4 medulloblastomas are also known to have elevated levels of histone H3-lysine 27-tri-methylation (H3K27me3), at least in part due to high expression of the H3K27 methyltransferase enhancer of zest homologue 2 (EZH2), which can be regulated by MYC. We therefore examined whether MYC expression is associated with elevated EZH2 and H3K27me3 in medulloblastoma, and if high-MYC medulloblastomas are particularly sensitive to pharmacological EZH2 blockade. Read More

JCI Insight 2019 Jan 10;4(1). Epub 2019 Jan 10.

Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

Medulloblastoma (MB) is the most prevalent malignant brain tumor in children, accounting for 20% of all childhood brain tumors. The molecular profiling of MB into 4 major subgroups (WNT, SHH, Grp3, and Grp4) emphasizes the heterogeneity of MB and opens paths in which treatments may be targeted to molecularly aggressive and distinct tumors. Current therapeutic strategies for Group 3 MB are challenging and can be accompanied by long-term side effects from treatment. Read More

Cancer Lett 2019 Mar 4;445:24-33. Epub 2019 Jan 4.

Department of Pediatric Oncology/Hematology, Charité-Universitätsmedizin Berlin, Germany; German Consortium for Translational Cancer Research (DKTK), Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany. Electronic address:

Medulloblastoma is the most prevalent central nervous system tumor in children. Targeted treatment approaches for patients with high-risk medulloblastoma are needed as current treatment regimens are not curative in many cases and cause significant therapy-related morbidity. Medulloblastoma harboring MYC amplification have the most aggressive clinical course and worst outcome. Read More

PLoS One 2019 4;14(1):e0210366. Epub 2019 Jan 4.

Department of Pediatrics, Sainte-Justine University Hospital and Research Center, University of Montreal, Montreal, Quebec, Canada.

Introduction: Risk of developing a malignancy when born premature is unknown. We hypothesised that risk of certain cancers might be increased in youth born preterm versus term. We therefore performed a systematic review and meta-analysis to evaluate the incidence of malignancy in the context of preterm birth, according to various cancer types. Read More

PLoS One 2019 4;14(1):e0206394. Epub 2019 Jan 4.

Department of Pathology, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, California, United states of America.

Leptomeningeal metastasis remains a difficult clinical challenge. Some success has been achieved by direct administration of therapeutics into the cerebrospinal fluid (CSF) circumventing limitations imposed by the blood brain barrier. Here we investigated continuous infusion versus bolus injection of therapy into the CSF in a preclinical model of human Group 3 medulloblastoma, the molecular subgroup with the highest incidence of leptomeningeal disease. Read More

J Neurooncol 2019 Jan 3. Epub 2019 Jan 3.

Neurosciences and Mental Health, The Hospital for Sick Children, Toronto, ON, Canada.

Purpose: Advances in the treatment of pediatric medulloblastoma have led to improved survival rates, though treatment-related toxicity leaves children with significant long-term deficits. There is significant variability in the cognitive outcome of medulloblastoma survivors, and it has been suggested that this variability may be attributable to genetic factors. The aim of this study was to explore the contributions of single nucleotide polymorphisms (SNPs) in two genes, peroxisome proliferator activated receptor (PPAR) and glutathione-S-transferase (GST), to changes in general intellectual functioning in medulloblastoma survivors. Read More

DNA Repair (Amst) 2019 Feb 16;74:70-79. Epub 2018 Dec 16.

Laboratory of Biomedical Technologies, Agenzia Nazionale per le Nuove Tecnologie, l'Energia e lo Sviluppo Economico Sostenibile (ENEA), Rome, Italy. Electronic address:

DSBs are harmful lesions produced through endogenous metabolism or by exogenous agents such as ionizing radiation, that can trigger genomic rearrangements. We have recently shown that exposure to 2 Gy of X-rays has opposite effects on the induction of Shh-dependent MB in NHEJ- and HR-deficient Ptch1 mice. In the current study we provide a comprehensive link on the role of HR/NHEJ at low doses (0. Read More

Acta Neuropathol Commun 2018 Dec 27;6(1):146. Epub 2018 Dec 27.

Department of Developmental and Stem Cell Biology and Regenerative Medicine, The Hospital for Sick Children, Toronto, Canada.

J Cancer 2018 17;9(24):4596-4610. Epub 2018 Nov 17.

Department of Chemistry & Biochemistry, Institute of Molecular Biophysics, Florida State University.

Medulloblastoma is the most common malignant pediatric brain tumor. Prior studies have concentrated their efforts studying the four molecular subgroups: SHH, Wnt, group 3, and group 4. SHH and Wnt are driven by their canonical pathways. Read More

Eur Radiol 2018 Dec 19. Epub 2018 Dec 19.

Department of Radiology, Institut de Diagnòstic per la Imatge (IDI), Centre Bellvitge, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain.

Objectives: Assessing a posterior fossa tumour in an adult can be challenging. Metastasis, haemangioblastoma, ependymal tumours, and medulloblastoma are the most common diagnostic possibilities. Our aim was to evaluate the contribution of magnetic resonance spectroscopy (MRS) in the diagnosis of these entities. Read More