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Qarc medulloblastoma7/4/2023 ![]() ![]() A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer Smoothened, is the major cause of Curry-Jones syndrome. Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. Mutations in SUFU predispose to medulloblastoma. High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. Population-based epidemiological study of primary intracranial tumors in childhood. Pediatric brain tumors in a low/middle income country: does it differ from that in developed world? J. This study describes germline predisposition to MB according to molecular subgroup in a series of >1,000 patients with MB, estimating that 6% of all MB diagnoses are attributable to heritable pathogenetic variants in six genes.Įzzat, S. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Incidence of medulloblastoma in Canadian children. Incidence and survival trends for medulloblastomas in the United States from 2001 to 2013. T., Schiffer, P., Lanotte, M., Girardi, P. German Childhood Cancer Registry - Annual Report 2016. CBTRUS statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 2011–2015. Outcome of children with metastatic medulloblastoma treated with carboplatin during craniospinal radiotherapy: a Children’s Oncology Group Phase I/II study. Hyperfractionated accelerated radiotherapy in the Milan strategy for metastatic medulloblastoma. Phase III study of craniospinal radiation therapy followed by adjuvant chemotherapy for newly diagnosed average-risk medulloblastoma. Standard-risk medulloblastoma treated by adjuvant chemotherapy followed by reduced-dose craniospinal radiation therapy: a French Society of Pediatric Oncology Study. Risk-adapted craniospinal radiotherapy followed by high-dose chemotherapy and stem-cell rescue in children with newly diagnosed medulloblastoma (St Jude Medulloblastoma-96): long-term results from a prospective, multicentre trial. ![]() The 2016 World Health Organization Classification of tumors of the central nervous system: a summary. This consensus paper proposes the recognition of four distinct MB subgroups, changing the way MB is studied in the research setting and treated clinically. Molecular subgroups of medulloblastoma: the current consensus. Medulloblastoma comprises four distinct molecular variants. Adult medulloblastoma comprises three major molecular variants. Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations. Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features. Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. This study is the first to demonstrate that MB is molecularly distinct from other embryonal brain tumour entities such as AT/RT and PNET.Ĭho, Y. Prediction of central nervous system embryonal tumour outcome based on gene expression. In addition, management strategies, which encompass surgical resection of the tumour, cranio-spinal irradiation and chemotherapy, are discussed, together with the possibility of focusing more on disease biology and robust molecularly driven patient stratification in future clinical trials. In this Primer, the epidemiology (including MB predisposition), molecular pathogenesis and integrative diagnosis taking histomorphology, molecular genetics and imaging into account are reviewed. 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. 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. Medulloblastoma (MB) comprises a biologically heterogeneous group of embryonal tumours of the cerebellum. ![]()
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