Paper - WANFANG MED ONLINE

You Position: Home > Paper

Pay attention to molecular pathological diagnosis of pediatric glioma

( views:55, downloads:5 )

Author:: No author available

Journal Title:: National Medical Journal of China

Issue:: 19

DOI:: 10.3760/cma.j.cn112137-20220208-00253

Key Word:: 儿童;胶质瘤;分子病理;诊断;Child;Glioma;Molecular pathology;Diagnosis

Abstract： Glioma is one of the most common central nervous system tumors in children.Increasing studies show that compared with adults, some gliomas in children have unique molecular genetic characteristics and completely different biological behaviors, although they are similar to adults in morphology and nomenclature. Therefore, pediatric glioma is by no means a "miniature version" of adults. In the 5th edition of WHO classification of central nervous system tumors published in the end of 2021, one of the most important revisions is the division of the classification into adult-type and pediatric-type diffuse gliomas, and the latter is further divided into pediatric-type diffuse low-grade gliomas and pediatric-type diffuse high-grade gliomas. In addition to histological morphology and clinical features, the basis of classification includes more molecular features. Therefore, in clinical practice, we need to pay more attention to the significance of molecular pathological diagnosis in the diagnosis and treatment of gliomas in children.

Reference

[1]Liu L,Backlund LM,Collins VP,etc.Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.[J].2008,68(21).
[2]Takanori Hirose,Sumihito Nobusawa,Kazuhiko Sugiyama,etc.Astroblastoma: a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement[J].2018,28(5).
[3].Lowered H3K27me3 and DNA hypomethylation define poorly prognostic pediatric posterior fossa ependymomas.[J].2016,(366).
[4]Sturm,D.,Versteeg,R.,J?ger,N.,etc.Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma[J].2013,45(8).
[5]Castel David,Kergrohen Thomas,Tauziède-Espariat Arnault,etc.Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation[J].2020,139(6).
[6]Chiang, Jason,Li, Xiaoyu,Liu, Anthony P. Y.,etc.Tectal glioma harbors high rates of KRAS G12R and concomitant KRAS and BRAF alterations[J].2020,139(3).
[7]Qaddoumi, Ibrahim,Orisme, Wilda,Wen, Ji,etc.Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology[J].2016,131(6).
[8]Mistry, Matthew,Zhukova, Nataliya,Merico, Daniele,etc.BRAF Mutation and CDKN2A Deletion Define a Clinically Distinct Subgroup of Childhood Secondary High-Grade Glioma[J].2015,33(9).
[9]Bale Tejus A.,Sait Sameer F.,Benhamida Jamal,etc.Malignant transformation of a polymorphous low grade neuroepithelial tumor of the young (PLNTY)[J].2020,141(1).
[10]Norman L,Lehman,Aisulu,Usubalieva,Tong,Lin,etc.Genomic analysis demonstrates that histologically-defined astroblastomas are molecularly heterogeneous and that tumors with MN1 rearrangement exhibit the most favorable prognosis.[J].2019,7(1).
[11]Huse, Jason T.,Snuderl, Matija,Jones, David T. W.,etc.Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): an epileptogenic neoplasm with oligodendroglioma-like components, aberrant CD34 expression, and genetic alterations involving the MAP kinase pathway[J].2017,133(3).
[12]Ana S,Guerreiro Stucklin,Scott,Ryall,Kohei,Fukuoka,etc.Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas.[J].2019,10(1).
[13]Zhang,J.,Wu,G.,Miller,C.P.,etc.Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas[J].2013,45(6).
[14]Chiang, Jason,Harreld, Julie H.,Tinkle, Christopher L.,etc.A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration[J].2019,138(6).
[15]Swanson, Amy A.,Raghunathan, Aditya,Jenkins, Robert B.,etc.Spinal Cord Ependymomas With MYCN Amplification Show Aggressive Clinical Behavior[J].2019,78(9).
[16]Zheng, Rongshou,Peng, Xiaoxia,Zeng, Hongmei,etc.Incidence, mortality and survival of childhood cancer in China during 2000-2010 period: A population-based study[J].2015,363(2).
[17]Sheer D,Forshew T,Bailey S,etc.MYB upregulation and genetic aberrations in a subset of pediatric low-grade gliomas.[J].2010,120(6).
[18]Fang Lian,Lei-Ming Wang,Xue-Ling Qi,etc.MYB-QKI rearrangement in angiocentric glioma.[J].2020,39(6).
[19]Ryall, Scott,Zapotocky, Michal,Fukuoka, Kohei,etc.Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas[J].2020,37(4).
[20]Felipe Andreiuolo,Pascale Varlet,Arnault Tauziède‐Espariat,etc.Childhood supratentorial ependymomas with YAP1‐MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features[J].2019,29(2).
[21]David,Castel,Cathy,Philippe,Thomas,Kergrohen,etc.Transcriptomic and epigenetic profiling of 'diffuse midline gliomas, H3 K27M-mutant' discriminate two subgroups based on the type of histone H3 mutated and not supratentorial or infratentorial location.[J].2018,6(1).
[22]Lambert,S.R.,Witt,H.,Hovestadt,V.,etc.Differential expression and methylation of brain developmental genes define location-specific subsets of pilocytic astrocytoma[J].2013,126(2).
[23]Pajtler, Kristian W.,Witt, Hendrik,Sill, Martin,etc.Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups[J].2015,27(5).
[24]Korshunov, Andrey,Schrimpf, Daniel,Ryzhova, Marina,etc.H3-/IDH-wild type pediatric glioblastoma is comprised of molecularly and prognostically distinct subtypes with associated oncogenic drivers[J].2017,134(3).
[25]Wefers, Annika K.,Stichel, Damian,Schrimpf, Daniel,etc.Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course[J].2020,139(1).
[26]Matthew,Clarke,Alan,Mackay,Britta,Ismer,etc.Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes.[J].2020.