Medulloblastomics revisited: biological and clinical insights from thousands of patients

被引：169

作者：

Hovestadt, Volker ^{[1
,2
,3
,4
]}

Ayrault, Olivier ^{[5
,6
]}

Swartling, Fredrik J. ^{[7
]}

Robinson, Giles W. ^{[8
]}

Pfister, Stefan M. ^{[9
,10
,11
,12
]}

Northcott, Paul A. ^{[13
]}

机构：

[1] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Ctr Canc Res, Boston, MA 02114 USA

[3] Harvard Med Sch, Boston, MA 02115 USA

[4] Broad Inst Harvard & MIT, Cambridge, MA USA

[5] PSL Res Univ, CNRS, Inst Curie, INSERM,UMR, Orsay, France

[6] Univ Paris Saclay, Univ Paris Sud, INSERM, U1021,CNRS,UMR 3347, Orsay, France

[7] Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab, Rudbeck Lab, Uppsala, Sweden

[8] St Jude Childrens Res Hosp, Dept Oncol, 332 N Lauderdale St, Memphis, TN 38105 USA

[9] Hopp Childrens Canc Ctr Heidelberg KiTZ, Heidelberg, Germany

[10] German Canc Res Ctr, Div Paediat Neurooncol, Heidelberg, Germany

[11] German Canc Consortium DKTK, Heidelberg, Germany

[12] Heidelberg Univ Hosp, Dept Paediat Haematol & Oncol, Heidelberg, Germany

[13] St Jude Childrens Res Hosp, Dept Dev Neurobiol, 332 N Lauderdale St, Memphis, TN 38105 USA

来源：

NATURE REVIEWS CANCER | 2020年 / 20卷 / 01期

关键词：

CENTRAL-NERVOUS-SYSTEM; MIR-17-SIMILAR-TO-92 CLUSTER FAMILY; TERT PROMOTER MUTATIONS; ACUTE MYELOID-LEUKEMIA; C-MYC ONCOGENE; CHILDHOOD MEDULLOBLASTOMA; MOLECULAR SUBGROUPS; MOUSE MODEL; STEM-CELL; ENHANCER HIJACKING;

D O I：

10.1038/s41568-019-0223-8

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Medulloblastoma, a malignant brain tumour primarily diagnosed during childhood, has recently been the focus of intensive molecular profiling efforts, profoundly advancing our understanding of biologically and clinically heterogeneous disease subgroups. Genomic, epigenomic, transcriptomic and proteomic landscapes have now been mapped for an unprecedented number of bulk samples from patients with medulloblastoma and, more recently, for single medulloblastoma cells. These efforts have provided pivotal new insights into the diverse molecular mechanisms presumed to drive tumour initiation, maintenance and recurrence across individual subgroups and subtypes. Translational opportunities stemming from this knowledge are continuing to evolve, providing a framework for improved diagnostic and therapeutic interventions. In this Review, we summarize recent advances derived from this continued molecular characterization of medulloblastoma and contextualize this progress towards the deployment of more effective, molecularly informed treatments for affected patients.

引用

页码：42 / 56

页数：15

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