title: Update on the integrated histopathological and genetic classification of medulloblastoma - a practical diagnostic guideline.
abstract: The revised WHO classification of tumors of the CNS 2016 has introduced the concept of the integrated diagnosis. The definition of medulloblastoma entities now requires a combination of the traditional histological information with additional molecular/genetic features. For definition of the histopathological component of the medulloblastoma diagnosis, the tumors should be assigned to one of the four entities classic, desmoplastic/nodular (DNMB), extensive nodular (MBEN), or large cell/anaplastic (LC/A) medulloblastoma. The genetically defined component comprises the four entities WNT-activated, SHH-activated and TP53 wildtype, SHH-activated and TP53 mutant, or non-WNT/non-SHH medulloblastoma. Robust and validated methods are available to allow a precise diagnosis of these medulloblastoma entities according to the updated WHO classification, and for differential diagnostic purposes. A combination of immunohistochemical markers including β-catenin, Yap1, p75-NGFR, Otx2, and p53, in combination with targeted sequencing and copy number assessment such as FISH analysis for MYC genes allows a precise assignment of patients for risk-adapted stratification. It also allows comparison to results of study cohorts in the past and provides a robust basis for further treatment refinement. .
authors: Torsten
authors: T
authors: Pietsch
authors: Christine
authors: C
authors: Haberler
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D002528:Cerebellar Neoplasms / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008527:Medulloblastoma / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D017410:Practice Guidelines as Topic; D014944:World Health Organization
chemical_list: D014408:Biomarkers, Tumor