Dysembryoplastic Neuroepithelial Tumor of the Septum Pellucidum and the Supratentorial Midline

Gessi, Marco; Hattingen, Elke; Dörner, Evelyn; Goschzik, Tobias; Dreschmann, Verena; Waha, Andreas; Pietsch, Torsten

doi:10.1097/pas.0000000000000600

Cited by 13 publications

(14 citation statements)

References 22 publications

(38 reference statements)

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“…Based on the small number of patients with long-term follow-up studied to date, this tumor entity appears to follow a benign or indolent disease course that is comparable to other tumor entities assigned a grade I designation by the WHO Classification of Tumors of the Central Nervous System. Unfortunately, many of the cases previously described as "dysembryoplastic neuroepithelial tumor-like neoplasm of the septum pellucidum" and intraventricular DNT have not been molecularly characterized (1,3,5,7,9,12,18,28,30,31), though it is likely that the majority represent "myxoid glioneuronal tumor, PDGFRA p.K385-mutant." They have similarly been associated with a relatively indolent behavior, albeit with occasional ventricular or leptomeningeal dissemination, similar to our series.…”

Section: Discussionmentioning

confidence: 99%

Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant: clinical, radiologic, and histopathologic features

et al. 2019

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Myxoid glioneuronal tumor, PDGFRA p.K385-mutant" is a recently described tumor entity of the central nervous system with a predilection for origin in the septum pellucidum and a defining dinucleotide mutation at codon 385 of the PDGFRA oncogene replacing lysine with either leucine or isoleucine (p.K385L/I). Clinical outcomes and optimal treatment for this new tumor entity have yet to be defined. Here, we report a comprehensive clinical, radiologic, and histopathologic assessment of eight cases. In addition to its stereotypic location in the septum pellucidum, we identify that this tumor can also occur in the corpus callosum and periventricular white matter of the lateral ventricle. Tumors centered in the septum pellucidum uniformly were associated with obstructive hydrocephalus, whereas tumors centered in the corpus callosum and periventricular white matter did not demonstrate hydrocephalus. While multiple patients were found to have ventricular dissemination or local recurrence/progression, all patients in this series remain alive at last clinical follow-up despite only biopsy or subtotal resection without adjuvant therapy in most cases. Our study further supports "myxoid glioneuronal tumor, PDGFRA p.K385mutant" as a distinct CNS tumor entity and expands the spectrum of clinicopathologic and radiologic features of this neoplasm.

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Section: Discussionmentioning

confidence: 99%

Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant: clinical, radiologic, and histopathologic features

et al. 2019

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“…Constitutional and somatic FGFR1 alterations and MAPK pathway activation are key events in the pathogenesis of DNT [Rivera et al, ]. They were not identified in a series of periventricular and intraventricular DNTs, suggesting that FGFR1 could be a candidate for defining a subtype of glioneuronal tumors including certain DNTS and RGNTs [Gessi et al, ].…”

Section: Discussionmentioning

confidence: 99%

Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature

Siegfried

Cancés

Denuelle

et al. 2017

American J of Med Genetics Pt A

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Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus. He developed epilepsy 2 years later. The temporal tumor was surgically resected because of increasing crises and worsening radiological signs. Microscopy showed nodules with specific glioneuronal elements or glial nodules, leading to the diagnosis of dysembryoplastic neuroepithelial tumor (DNT). Immunohistochemistry revealed positive nuclear staining with Olig2 and pERK in small cells. SHP2 plays a key role in RAS/MAPK pathway signaling which controls several developmental cell processes and oncogenesis. An amino-acid substitution in the N-terminal SHP2 domain disrupts the self-locking conformation and leads to ERK activation. Glioneuronal tumors including DNTs and pilocytic astrocytomas have been described in NS. This report provides further support for the relation of DNTs with RASopathies and for the implication of RAS/MAPK pathways in sporadic low-grade glial tumors including DNTs. © 2017 Wiley Periodicals, Inc.

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“…1 Rare neural tumors with similar histologic features have been described in the region of the septal nuclei and termed "DNET-like neoplasms of the septum pellucidum. " [2][3][4][5][6][7][8][9] These publications have described small series of tumors or individual cases, including associated genetic alterations, but a detailed study of the disease remains to be reported.…”

Section: Importance Of the Studymentioning

confidence: 99%

Septal dysembryoplastic neuroepithelial tumor: a comprehensive clinical, imaging, histopathologic, and molecular analysis

et al. 2019

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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 Key Points 1. Septal DNET is a distinct neoplastic entity. 2. The septal nuclei are the proposed site of origin for sDNET.

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Dysembryoplastic Neuroepithelial Tumor of the Septum Pellucidum and the Supratentorial Midline

Cited by 13 publications

References 22 publications

Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant: clinical, radiologic, and histopathologic features

Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant: clinical, radiologic, and histopathologic features

Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature

Septal dysembryoplastic neuroepithelial tumor: a comprehensive clinical, imaging, histopathologic, and molecular analysis

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