LGCmain
Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 884
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size
CASE REPORT
Year : 2020  |  Volume : 63  |  Issue : 2  |  Page : 262-266

Cerebral hemispheric glioblastoma with PNET-like morphology and histone H3.3 G34 mutation in younger patients: Report of three rare cases and diagnostic pitfalls


1 Department of Pathology, Huashan Hospital, Fudan University, Shanghai, China
2 PET Center, Huashan Hospital, Fudan University, Shanghai, China

Correspondence Address:
Yuanyuan Cheng
Department of Pathology, Huashan Hospital, Fudan University, Shanghai - 200040
China
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJPM.IJPM_544_19

Rights and Permissions

Recurrent mutations in H3F3A that encodes the histone 3 variant H3.3, lead to amino acid substitutions including K27M and G34R/V-which are observed in high-grade gliomas (HGGs) of children and young adults. Previous studies have focused on gliomas with K27M mutation, whereas gliomas with G34R/V mutation have received little attention. Herein, we report three rare cases of glioblastoma (GBM) with H3.3 G34 mutation arising from a cerebral hemisphere in two children and one young adult. All three cases showed microscopic characteristics of central nervous system primitive neuroectodermal tumor (CNS-PNET, called CNS embryonal tumors in WHO 2016 Revised 4th Edition) and presented H3.3 G34 mutation. H3.3 G34-mutant brain tumors were formerly a group of histopathologically distinct neoplasms, involved in GBM, CNS-PNET, and astroblastoma. However, recent studies have demonstrated that different CNS tumors with H3.3 G34 mutation display coherent epigenetic signatures, implying a single biological origin. Correspondingly, our three cases showed high consistency in tumor location, histological morphology, and molecular phenotype. Their immunophenotypes are similar to astrocytoma, with ATRX loss and TP53 mutation. Therefore it suggests that these H3.3 G34-mutant brain tumors may be a rare entity of HGG.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed742    
    Printed15    
    Emailed0    
    PDF Downloaded44    
    Comments [Add]    

Recommend this journal