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

Anthony P.Y. Liu, Julie H. Harreld, Lisa M. Jacola, Madelyn Gero, Sahaja Acharya, Yahya Ghazwani, Shengjie Wu, Xiaoyu Li, Paul Klimo, Amar Gajjar, Jason Chiang, Ibrahim Qaddoumi

Research output: Contribution to journalArticle

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Abstract

Tectal 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.

Original languageEnglish (US)
Number of pages1
JournalActa Neuropathologica Communications
Volume6
Issue number1
DOIs
StatePublished - Sep 25 2018

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Molecular Imaging
Glioma
Astrocytoma
DNA Methylation
Neoplasms
Morbidity
Headache Disorders
Mutation
DNA Fingerprinting
Intracranial Pressure
Research
Brain Neoplasms
Histones
Disease-Free Survival
Cerebrospinal Fluid
Chronic Disease
Radiotherapy
Genome
Pediatrics
Pathology

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

Cite this

Tectal glioma as a distinct diagnostic entity : a comprehensive clinical, imaging, histologic and molecular analysis. / Liu, Anthony P.Y.; Harreld, Julie H.; Jacola, Lisa M.; Gero, Madelyn; Acharya, Sahaja; Ghazwani, Yahya; Wu, Shengjie; Li, Xiaoyu; Klimo, Paul; Gajjar, Amar; Chiang, Jason; Qaddoumi, Ibrahim.

In: Acta Neuropathologica Communications, Vol. 6, No. 1, 25.09.2018.

Research output: Contribution to journalArticle

Liu, APY, Harreld, JH, Jacola, LM, Gero, M, Acharya, S, Ghazwani, Y, Wu, S, Li, X, Klimo, P, Gajjar, A, Chiang, J & Qaddoumi, I 2018, 'Tectal glioma as a distinct diagnostic entity: a comprehensive clinical, imaging, histologic and molecular analysis', Acta Neuropathologica Communications, vol. 6, no. 1. https://doi.org/10.1186/s40478-018-0602-5
Liu, Anthony P.Y. ; Harreld, Julie H. ; Jacola, Lisa M. ; Gero, Madelyn ; Acharya, Sahaja ; Ghazwani, Yahya ; Wu, Shengjie ; Li, Xiaoyu ; Klimo, Paul ; Gajjar, Amar ; Chiang, Jason ; Qaddoumi, Ibrahim. / Tectal glioma as a distinct diagnostic entity : a comprehensive clinical, imaging, histologic and molecular analysis. In: Acta Neuropathologica Communications. 2018 ; Vol. 6, No. 1.
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abstract = "Tectal 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.",
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AU - Gero, Madelyn

AU - Acharya, Sahaja

AU - Ghazwani, Yahya

AU - Wu, Shengjie

AU - Li, Xiaoyu

AU - Klimo, Paul

AU - Gajjar, Amar

AU - Chiang, Jason

AU - Qaddoumi, Ibrahim

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