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Article: Tectal glioma as a distinct diagnostic entity: a comprehensive clinical, imaging, histologic and molecular analysis

TitleTectal glioma as a distinct diagnostic entity: a comprehensive clinical, imaging, histologic and molecular analysis
Authors
KeywordsTectal glioma
Imaging findings
Prognostic factors
Histopathology
DNA methylation profiling
Long-term follow-up
Issue Date2018
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.actaneurocomms.org/content
Citation
Acta Neuropathologica Communications, 2018, v. 6, article no. 101, p. 1-12 How to Cite?
AbstractTectal glioma (TG) is a rare low-grade tumor occurring predominantly in the pediatric population. There has been no detailed analysis of molecular alterations in TG. Risk factors associated with inferior outcome and long-term sequelae of TG have not been well-documented. We retrospectively studied TGs treated or referred for review at St. Jude Children’s Research Hospital (SJCRH) between 1986 and 2013. Longitudinal clinical data were summarized, imaging and pathology specimen centrally reviewed, and tumor material analyzed with targeted molecular testing and genome-wide DNA methylation profiling. Forty-five patients with TG were included. Twenty-six (57.8%) were male. Median age at diagnosis was 9.9 years (range, 0.01–20.5). Median follow-up was 7.6 years (range, 0.5–17.0). The most common presenting symptoms were related to increased intracranial pressure. Of the 22 patients treated at SJCRH, 19 (86%) required cerebrospinal fluid diversion and seven (32%) underwent tumor-directed surgery. Five patients (23%) received radiation therapy and four (18%) systemic therapy. Ten-year overall and progression-free survival were 83.9 ± 10.4% and 48.7 ± 14.2%, respectively. Long-term morbidities included chronic headaches, visual symptoms and neurocognitive impairment. Lesion ≥3cm2, contrast enhancement and cystic changes at presentation were risk factors for progression. Among those with tumor tissue available, 83% showed growth patterns similar to pilocytic astrocytoma and 17% aligned best with diffuse astrocytoma. BRAF duplication (a marker of KIAA1549-BRAF fusion) and BRAF V600E mutation were detected in 25% and 7.7%, respectively. No case had histone H3 K27M mutation. DNA methylation profile of TG was distinct from other brain tumors. In summary, TG is an indolent, chronic disease with unique clinical and molecular profiles and associated with long term morbidities. Large size, contrast enhancement and cystic changes are risk factors for progression.
Persistent Identifierhttp://hdl.handle.net/10722/265277
ISSN
2017 Impact Factor: 5.414
2015 SCImago Journal Rankings: 2.302
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLiu, APY-
dc.contributor.authorHarreld, JH-
dc.contributor.authorJacola, LM-
dc.contributor.authorGero, M-
dc.contributor.authorAcharya, S-
dc.contributor.authorGhazwani, Y-
dc.contributor.authorWu, S-
dc.contributor.authorLi, X-
dc.contributor.authorKlimo, P-
dc.contributor.authorGajjar, A-
dc.contributor.authorChiang, J-
dc.contributor.authorQaddoumi, I-
dc.date.accessioned2018-11-20T02:03:31Z-
dc.date.available2018-11-20T02:03:31Z-
dc.date.issued2018-
dc.identifier.citationActa Neuropathologica Communications, 2018, v. 6, article no. 101, p. 1-12-
dc.identifier.issn2051-5960-
dc.identifier.urihttp://hdl.handle.net/10722/265277-
dc.description.abstractTectal glioma (TG) is a rare low-grade tumor occurring predominantly in the pediatric population. There has been no detailed analysis of molecular alterations in TG. Risk factors associated with inferior outcome and long-term sequelae of TG have not been well-documented. We retrospectively studied TGs treated or referred for review at St. Jude Children’s Research Hospital (SJCRH) between 1986 and 2013. Longitudinal clinical data were summarized, imaging and pathology specimen centrally reviewed, and tumor material analyzed with targeted molecular testing and genome-wide DNA methylation profiling. Forty-five patients with TG were included. Twenty-six (57.8%) were male. Median age at diagnosis was 9.9 years (range, 0.01–20.5). Median follow-up was 7.6 years (range, 0.5–17.0). The most common presenting symptoms were related to increased intracranial pressure. Of the 22 patients treated at SJCRH, 19 (86%) required cerebrospinal fluid diversion and seven (32%) underwent tumor-directed surgery. Five patients (23%) received radiation therapy and four (18%) systemic therapy. Ten-year overall and progression-free survival were 83.9 ± 10.4% and 48.7 ± 14.2%, respectively. Long-term morbidities included chronic headaches, visual symptoms and neurocognitive impairment. Lesion ≥3cm2, contrast enhancement and cystic changes at presentation were risk factors for progression. Among those with tumor tissue available, 83% showed growth patterns similar to pilocytic astrocytoma and 17% aligned best with diffuse astrocytoma. BRAF duplication (a marker of KIAA1549-BRAF fusion) and BRAF V600E mutation were detected in 25% and 7.7%, respectively. No case had histone H3 K27M mutation. DNA methylation profile of TG was distinct from other brain tumors. In summary, TG is an indolent, chronic disease with unique clinical and molecular profiles and associated with long term morbidities. Large size, contrast enhancement and cystic changes are risk factors for progression.-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.actaneurocomms.org/content-
dc.relation.ispartofActa Neuropathologica Communications-
dc.rightsActa Neuropathologica Communications. Copyright © BioMed Central Ltd.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectTectal glioma-
dc.subjectImaging findings-
dc.subjectPrognostic factors-
dc.subjectHistopathology-
dc.subjectDNA methylation profiling-
dc.subjectLong-term follow-up-
dc.titleTectal glioma as a distinct diagnostic entity: a comprehensive clinical, imaging, histologic and molecular analysis-
dc.typeArticle-
dc.identifier.emailLiu, APY: apyliu@hku.hk-
dc.identifier.authorityLiu, APY=rp01357-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s40478-018-0602-5-
dc.identifier.pmid30253793-
dc.identifier.pmcidPMC6154813-
dc.identifier.hkuros295910-
dc.identifier.volume6-
dc.identifier.spagearticle no. 101, p. 1-
dc.identifier.epagearticle no. 101, p. 12-
dc.identifier.isiWOS:000445816900001-
dc.publisher.placeUnited Kingdom-

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