Septal dysembryoplastic neuroepithelial tumor

A comprehensive clinical, imaging, histopathologic, and molecular analysis

Jason C.H. Chiang, Julie H. Harreld, Ryuma Tanaka, Xiaoyu Li, Ji Wen, Chenran Zhang, Daniel R. Boue, Tracy M. Rauch, J. Todd Boyd, Jie Chen, Joseph C. Corbo, Thomas W. Bouldin, Scott W. Elton, Le Wen L. Liu, Deborah Schofield, Sunhee C. Lee, John Paul Bouffard, Maria Magdalena Georgescu, Rimal H. Dossani, Maria A. Aguiar & 5 others Richard A. Sances, Ali G. Saad, Frederick Boop, Ibrahim Qaddoumi, David W. Ellison

Research output: Contribution to journalArticle

Abstract

Background. Dysembryoplastic neuroepithelial tumors (DNETs) are uncommon neural tumors presenting most often in children and young adults and associated with intractable seizures. Rare midline neoplasms with similar histological features to those found in DNETs have been described near the septum pellucidum and termed "DNET-like neoplasms of the septum pellucidum." Due to their rarity, these tumors have been described in just a few reports and their genetic alterations sought only in small series. Methods. We collected 20 of these tumors for a comprehensive study of their clinical, radiological, and pathological features. RNA sequencing or targeted DNA sequencing was undertaken on 18 tumors, and genome-wide DNA methylation profiling was possible with 11 tumors. Published cases (n = 22) were also reviewed for comparative purposes. Results. The commonest presenting symptoms and signs were related to raised intracranial pressure; 40% of cases required cerebrospinal fluid diversion. Epilepsy was seen in approximately one third of cases. All patients had an indolent disease course, despite metastasis within the neuraxis in a few cases. Radiologically, the septum verum/septal nuclei were involved in all cases and are the proposed site of origin for septal DNET (sDNET). Septal DNET showed a high frequency (~80%) of mutations of platelet derived growth factor receptor A (PDGFRA), and alterations in fibroblast growth factor receptor 1 (FGFR1) and neurofibromatosis type 1 (NF1) were also identified. In a genomic DNA methylation analysis alongside other neural tumors, sDNETs formed a separate molecular group. Conclusions. Genetic alterations that are different from those of cerebral DNETs and a distinct methylome profile support the proposal that sDNET is a distinct disease entity.

Original languageEnglish (US)
Pages (from-to)800-808
Number of pages9
JournalNeuro-oncology
Volume21
Issue number6
DOIs
StatePublished - Jun 10 2019

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Neuroepithelial Neoplasms
Molecular Imaging
Neoplasms
Septum Pellucidum
DNA Methylation
Receptor, Fibroblast Growth Factor, Type 1
RNA Sequence Analysis
Platelet-Derived Growth Factor Receptors
Septal Nuclei
Neurofibromatosis 1
DNA Fingerprinting
Intracranial Pressure
Mutation Rate
DNA Sequence Analysis
Signs and Symptoms
Cerebrospinal Fluid
Young Adult
Epilepsy
Seizures
Genome

All Science Journal Classification (ASJC) codes

  • Oncology
  • Clinical Neurology
  • Cancer Research

Cite this

Chiang, J. C. H., Harreld, J. H., Tanaka, R., Li, X., Wen, J., Zhang, C., ... Ellison, D. W. (2019). Septal dysembryoplastic neuroepithelial tumor: A comprehensive clinical, imaging, histopathologic, and molecular analysis. Neuro-oncology, 21(6), 800-808. https://doi.org/10.1093/neuonc/noz037

Septal dysembryoplastic neuroepithelial tumor : A comprehensive clinical, imaging, histopathologic, and molecular analysis. / Chiang, Jason C.H.; Harreld, Julie H.; Tanaka, Ryuma; Li, Xiaoyu; Wen, Ji; Zhang, Chenran; Boue, Daniel R.; Rauch, Tracy M.; Boyd, J. Todd; Chen, Jie; Corbo, Joseph C.; Bouldin, Thomas W.; Elton, Scott W.; Liu, Le Wen L.; Schofield, Deborah; Lee, Sunhee C.; Bouffard, John Paul; Georgescu, Maria Magdalena; Dossani, Rimal H.; Aguiar, Maria A.; Sances, Richard A.; Saad, Ali G.; Boop, Frederick; Qaddoumi, Ibrahim; Ellison, David W.

In: Neuro-oncology, Vol. 21, No. 6, 10.06.2019, p. 800-808.

Research output: Contribution to journalArticle

Chiang, JCH, Harreld, JH, Tanaka, R, Li, X, Wen, J, Zhang, C, Boue, DR, Rauch, TM, Boyd, JT, Chen, J, Corbo, JC, Bouldin, TW, Elton, SW, Liu, LWL, Schofield, D, Lee, SC, Bouffard, JP, Georgescu, MM, Dossani, RH, Aguiar, MA, Sances, RA, Saad, AG, Boop, F, Qaddoumi, I & Ellison, DW 2019, 'Septal dysembryoplastic neuroepithelial tumor: A comprehensive clinical, imaging, histopathologic, and molecular analysis', Neuro-oncology, vol. 21, no. 6, pp. 800-808. https://doi.org/10.1093/neuonc/noz037
Chiang, Jason C.H. ; Harreld, Julie H. ; Tanaka, Ryuma ; Li, Xiaoyu ; Wen, Ji ; Zhang, Chenran ; Boue, Daniel R. ; Rauch, Tracy M. ; Boyd, J. Todd ; Chen, Jie ; Corbo, Joseph C. ; Bouldin, Thomas W. ; Elton, Scott W. ; Liu, Le Wen L. ; Schofield, Deborah ; Lee, Sunhee C. ; Bouffard, John Paul ; Georgescu, Maria Magdalena ; Dossani, Rimal H. ; Aguiar, Maria A. ; Sances, Richard A. ; Saad, Ali G. ; Boop, Frederick ; Qaddoumi, Ibrahim ; Ellison, David W. / Septal dysembryoplastic neuroepithelial tumor : A comprehensive clinical, imaging, histopathologic, and molecular analysis. In: Neuro-oncology. 2019 ; Vol. 21, No. 6. pp. 800-808.
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abstract = "Background. Dysembryoplastic neuroepithelial tumors (DNETs) are uncommon neural tumors presenting most often in children and young adults and associated with intractable seizures. Rare midline neoplasms with similar histological features to those found in DNETs have been described near the septum pellucidum and termed {"}DNET-like neoplasms of the septum pellucidum.{"} Due to their rarity, these tumors have been described in just a few reports and their genetic alterations sought only in small series. Methods. We collected 20 of these tumors for a comprehensive study of their clinical, radiological, and pathological features. RNA sequencing or targeted DNA sequencing was undertaken on 18 tumors, and genome-wide DNA methylation profiling was possible with 11 tumors. Published cases (n = 22) were also reviewed for comparative purposes. Results. The commonest presenting symptoms and signs were related to raised intracranial pressure; 40{\%} of cases required cerebrospinal fluid diversion. Epilepsy was seen in approximately one third of cases. All patients had an indolent disease course, despite metastasis within the neuraxis in a few cases. Radiologically, the septum verum/septal nuclei were involved in all cases and are the proposed site of origin for septal DNET (sDNET). Septal DNET showed a high frequency (~80{\%}) of mutations of platelet derived growth factor receptor A (PDGFRA), and alterations in fibroblast growth factor receptor 1 (FGFR1) and neurofibromatosis type 1 (NF1) were also identified. In a genomic DNA methylation analysis alongside other neural tumors, sDNETs formed a separate molecular group. Conclusions. Genetic alterations that are different from those of cerebral DNETs and a distinct methylome profile support the proposal that sDNET is a distinct disease entity.",
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TY - JOUR

T1 - Septal dysembryoplastic neuroepithelial tumor

T2 - A comprehensive clinical, imaging, histopathologic, and molecular analysis

AU - Chiang, Jason C.H.

AU - Harreld, Julie H.

AU - Tanaka, Ryuma

AU - Li, Xiaoyu

AU - Wen, Ji

AU - Zhang, Chenran

AU - Boue, Daniel R.

AU - Rauch, Tracy M.

AU - Boyd, J. Todd

AU - Chen, Jie

AU - Corbo, Joseph C.

AU - Bouldin, Thomas W.

AU - Elton, Scott W.

AU - Liu, Le Wen L.

AU - Schofield, Deborah

AU - Lee, Sunhee C.

AU - Bouffard, John Paul

AU - Georgescu, Maria Magdalena

AU - Dossani, Rimal H.

AU - Aguiar, Maria A.

AU - Sances, Richard A.

AU - Saad, Ali G.

AU - Boop, Frederick

AU - Qaddoumi, Ibrahim

AU - Ellison, David W.

PY - 2019/6/10

Y1 - 2019/6/10

N2 - Background. Dysembryoplastic neuroepithelial tumors (DNETs) are uncommon neural tumors presenting most often in children and young adults and associated with intractable seizures. Rare midline neoplasms with similar histological features to those found in DNETs have been described near the septum pellucidum and termed "DNET-like neoplasms of the septum pellucidum." Due to their rarity, these tumors have been described in just a few reports and their genetic alterations sought only in small series. Methods. We collected 20 of these tumors for a comprehensive study of their clinical, radiological, and pathological features. RNA sequencing or targeted DNA sequencing was undertaken on 18 tumors, and genome-wide DNA methylation profiling was possible with 11 tumors. Published cases (n = 22) were also reviewed for comparative purposes. Results. The commonest presenting symptoms and signs were related to raised intracranial pressure; 40% of cases required cerebrospinal fluid diversion. Epilepsy was seen in approximately one third of cases. All patients had an indolent disease course, despite metastasis within the neuraxis in a few cases. Radiologically, the septum verum/septal nuclei were involved in all cases and are the proposed site of origin for septal DNET (sDNET). Septal DNET showed a high frequency (~80%) of mutations of platelet derived growth factor receptor A (PDGFRA), and alterations in fibroblast growth factor receptor 1 (FGFR1) and neurofibromatosis type 1 (NF1) were also identified. In a genomic DNA methylation analysis alongside other neural tumors, sDNETs formed a separate molecular group. Conclusions. Genetic alterations that are different from those of cerebral DNETs and a distinct methylome profile support the proposal that sDNET is a distinct disease entity.

AB - Background. Dysembryoplastic neuroepithelial tumors (DNETs) are uncommon neural tumors presenting most often in children and young adults and associated with intractable seizures. Rare midline neoplasms with similar histological features to those found in DNETs have been described near the septum pellucidum and termed "DNET-like neoplasms of the septum pellucidum." Due to their rarity, these tumors have been described in just a few reports and their genetic alterations sought only in small series. Methods. We collected 20 of these tumors for a comprehensive study of their clinical, radiological, and pathological features. RNA sequencing or targeted DNA sequencing was undertaken on 18 tumors, and genome-wide DNA methylation profiling was possible with 11 tumors. Published cases (n = 22) were also reviewed for comparative purposes. Results. The commonest presenting symptoms and signs were related to raised intracranial pressure; 40% of cases required cerebrospinal fluid diversion. Epilepsy was seen in approximately one third of cases. All patients had an indolent disease course, despite metastasis within the neuraxis in a few cases. Radiologically, the septum verum/septal nuclei were involved in all cases and are the proposed site of origin for septal DNET (sDNET). Septal DNET showed a high frequency (~80%) of mutations of platelet derived growth factor receptor A (PDGFRA), and alterations in fibroblast growth factor receptor 1 (FGFR1) and neurofibromatosis type 1 (NF1) were also identified. In a genomic DNA methylation analysis alongside other neural tumors, sDNETs formed a separate molecular group. Conclusions. Genetic alterations that are different from those of cerebral DNETs and a distinct methylome profile support the proposal that sDNET is a distinct disease entity.

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U2 - 10.1093/neuonc/noz037

DO - 10.1093/neuonc/noz037

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JO - Neuro-Oncology

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