Molecular diagnostics in embryonal brain tumors.
Molecular diagnostics in embryonal brain tumors.
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DOI：
10.1111/j.1750-3639.2010.00455.x
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发表时间：
2011-01
期刊：
影响因子：
--
通讯作者：
Eberhart CG
中科院分区：
文献类型：
--
作者：
Eberhart CG
Embryonal brain tumors are a heterogeneous group of neoplasms united by the presence of poorly differentiated stem-like cells. Molecular details are increasingly being used to separate them into biologically and clinically meaningful groups. For medulloblastoma, integrated mRNA expression profiling and DNA analysis by a number of research groups defines four to six distinctive molecular variants. A subset with prominent Wnt activity is associated with good clinical outcomes and classic histology. Medulloblastomas showing a Hedgehog gene expression signature are frequently of the desmoplastic/nodular subtype. Interestingly, Hedgehog activity is found in tumors arising either in infants or older teenagers and adults. The association of clinically aggressive medulloblastoma with MYC expression, large cell/anaplastic change and high levels of photoreceptor differentiation transcripts has also been noted in several studies. Immunohistochemical analysis of just one or two genes per molecular medulloblastoma variant may be sufficient for accurate classification, and this would be of great practical utility if validated. Advances have also been made in the classification of CNS Primitive Neuroectodermal Tumors (PNET), as several groups have identified an amplicon at chromosome 19q13.41–42, which appears to define a unique PNET subtype associated with prominent true rosettes, young age and very poor outcomes.
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