Cited 34 times in
Poorly differentiated chordoma with loss of SMARCB1/INI1 expression in pediatric patients: A report of two cases and review of the literature
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김동석 | - |
dc.contributor.author | 김세훈 | - |
dc.contributor.author | 이승구 | - |
dc.contributor.author | 차윤진 | - |
dc.contributor.author | 홍창기 | - |
dc.date.accessioned | 2018-08-28T16:53:33Z | - |
dc.date.available | 2018-08-28T16:53:33Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 0919-6544 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/162043 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Blackwell Science Asia | - |
dc.relation.isPartOf | NEUROPATHOLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Poorly differentiated chordoma with loss of SMARCB1/INI1 expression in pediatric patients: A report of two cases and review of the literature | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Neurosurgery | - |
dc.contributor.googleauthor | Yoon Jin Cha | - |
dc.contributor.googleauthor | Chang-Ki Hong | - |
dc.contributor.googleauthor | Dong-Seok Kim | - |
dc.contributor.googleauthor | Seung-Koo Lee | - |
dc.contributor.googleauthor | Hyeon Jin Park | - |
dc.contributor.googleauthor | Se Hoon Kim | - |
dc.identifier.doi | 10.1111/neup.12407 | - |
dc.contributor.localId | A00402 | - |
dc.contributor.localId | A00610 | - |
dc.contributor.localId | A02912 | - |
dc.contributor.localId | A04001 | - |
dc.contributor.localId | A04445 | - |
dc.relation.journalcode | J02348 | - |
dc.identifier.eissn | 1440-1789 | - |
dc.identifier.pmid | 28812319 | - |
dc.identifier.url | https://onlinelibrary.wiley.com/doi/abs/10.1111/neup.12407 | - |
dc.subject.keyword | SMARCB1/INI1 | - |
dc.subject.keyword | brachyury | - |
dc.subject.keyword | chordoma | - |
dc.subject.keyword | immunohistochemistry | - |
dc.subject.keyword | pediatrics | - |
dc.contributor.alternativeName | Kim, Dong Seok | - |
dc.contributor.alternativeName | Kim, Se Hoon | - |
dc.contributor.alternativeName | Lee, Seung Koo | - |
dc.contributor.alternativeName | Cha, Yoon Jin | - |
dc.contributor.alternativeName | Hong, Chang Ki | - |
dc.contributor.affiliatedAuthor | Kim, Dong Seok | - |
dc.contributor.affiliatedAuthor | Kim, Se Hoon | - |
dc.contributor.affiliatedAuthor | Lee, Seung Koo | - |
dc.contributor.affiliatedAuthor | Cha, Yoon Jin | - |
dc.contributor.affiliatedAuthor | Hong, Chang Ki | - |
dc.citation.volume | 38 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 47 | - |
dc.citation.endPage | 53 | - |
dc.identifier.bibliographicCitation | NEUROPATHOLOGY, Vol.38(1) : 47-53, 2018 | - |
dc.identifier.rimsid | 59633 | - |
dc.type.rims | ART | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.