0 74

Cited 3 times in

Poorly differentiated chordoma with loss of SMARCB1/INI1 expression in pediatric patients: A report of two cases and review of the literature

Authors
 Yoon Jin Cha  ;  Chang-Ki Hong  ;  Dong-Seok Kim  ;  Seung-Koo Lee  ;  Hyeon Jin Park  ;  Se Hoon Kim 
Citation
 Neuropathology, Vol.38(1) : 47-53, 2018 
Journal Title
 Neuropathology 
ISSN
 0919-6544 
Issue Date
2018
Keywords
SMARCB1/INI1 ; brachyury ; chordoma ; immunohistochemistry ; pediatrics
Abstract
Identification of loss of SMARCB1/INI1 expression in poorly differentiated (PD) chordoma in pediatric patients suggests that PD chordoma is an entity molecularly distinct from conventional chordoma or atypical teratoid/rhabdoid tumor, which is also characterized by loss of SMARCB1/INI1 expression by inactivating mutation of the SMARCB1/INI gene. So far, around 20 cases of pediatric PD chordoma with loss of SMARCB1/INI1 expression have been reported. Here, we report two cases of pediatric PD chordoma with loss of SMARCB1/INI1 expression, which is very rare among the pediatric chordoma types. Both patients presented clival masses on preoperative MRI. Histologically, both tumors had nonclassic histologic features for conventional chordoma: sheets of large epithelioid to spindle cells with vesicular nuclei and prominent nucleoli. Both cases revealed nuclear expression of brachyury, loss of SMARCB1/INI1 expression and lack of embryonal, neuroectodermal, or epithelial component. One case showed heterozygous loss of EWSR1 gene by break-apart fluorescence in situ hybridization that reflected loss of SMARCB1/INI1 gene. Based on the clival location and histologic findings along with the loss of SMARCB1/INI1 expression and positivity for nuclear brachyury staining, the final pathologic diagnosis for both cases was PD chordoma.
Full Text
https://onlinelibrary.wiley.com/doi/abs/10.1111/neup.12407
DOI
10.1111/neup.12407
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
김동석(Kim, Dong Seok)
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
이승구(Lee, Seung Koo) ORCID logo https://orcid.org/0000-0001-5646-4072
차윤진(Cha, Yoon Jin) ORCID logo https://orcid.org/0000-0002-5967-4064
홍창기(Hong, Chang Ki)
Export
RIS (EndNote)
XLS (Excel)
XML
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/162043
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse