Diffuse leptomeningeal glioneuronal tumor without KIAA1549-BRAF fusion and 1p detection: a case report and review of literature

2022 ◽  
Author(s):  
Weiqin Cheng ◽  
Ling He ◽  
Jin Zhu ◽  
Xiao Fan
Keyword(s):  
Case Report ◽  
Glioneuronal Tumor ◽  
Review Of Literature ◽  
Diffuse Leptomeningeal Glioneuronal Tumor ◽  
Braf Fusion

scholarly journals Diffuse Leptomeningeal Glioneuronal Tumor: Case Report and Review of Literature

2020 ◽  
Vol 4 (1) ◽  
Author(s):  
Marianayagam Neelan J ◽  
Ben-Shalom Netanel ◽  
Toledano Helen ◽  
Marglit Nevo ◽  
Michowiz Shalom ◽  
...  
Keyword(s):  
Case Report ◽  
Glioneuronal Tumor ◽  
Review Of Literature ◽  
Diffuse Leptomeningeal Glioneuronal Tumor

Diffuse leptomeningeal glioneuronal tumor in a Chinese adult: a novel case report and review of literature

2019 ◽  
Vol 120 (2) ◽  
pp. 247-256 ◽  
Author(s):  
Honghao Xu ◽  
Fangqing Chen ◽  
Haitao Zhu ◽  
Lei Luo ◽  
Rui Zhang
Keyword(s):  
Case Report ◽  
Glioneuronal Tumor ◽  
Review Of Literature ◽  
Chinese Adult ◽  
Diffuse Leptomeningeal Glioneuronal Tumor

scholarly journals Diffuse leptomeningeal glioneuronal tumor with high-grade features masquerading as tubercular meningitis—a case report

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Sameer Peer ◽  
Vivek Murumkar ◽  
Karthik Kulanthaivelu ◽  
Chandrajit Prasad ◽  
Shilpa Rao ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Histopathological Examination ◽  
Glioneuronal Tumor ◽  
Communicating Hydrocephalus ◽  
High Grade ◽  
Endemic Region ◽  
Tubercular Meningitis ◽  
Leptomeningeal Enhancement ◽  
Diffuse Leptomeningeal Glioneuronal Tumor

Abstract Background Diffuse leptomeningeal glioneuronal tumor (DLGNT) has been recently described in the literature. The complete neuroimaging spectrum and histopathological characteristics of this entity are yet to be elucidated. In an endemic region, diffuse leptomeningeal enhancement on neuroimaging with associated communicating hydrocephalus is usually suggestive of infective meningitis and the patients are started on empirical anti-microbial therapy. However, it is important to consider other differential diagnosis of leptomeningeal enhancement in such cases, particularly if the clinical condition does not improve on anti-microbial therapy. An early diagnosis of a neoplastic etiology may be of particular importance as the treatment regimens vary considerably depending on the underlying disease condition. Case presentation In this case report, we describe a case of DLGNT with high-grade histopathological features which was initially managed as tubercular meningitis based on the initial neuroimaging findings. Due to worsening of the clinical course and subsequent imaging findings at follow-up, a diagnosis of DLGNT was considered and subsequently proven to be DLGNT with features of anaplasia on histopathological examination of leptomeningeal biopsy specimen. Conclusion This case highlights the importance of recognizing certain subtle finding on MRI which may help in an early diagnosis of DLGNT which is crucial for appropriate treatment.

scholarly journals LGG-26. DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR (DLGNT) IN CHILDREN: DIFFERENT CLINICAL PRESENTATIONS AND OUTCOMES

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii371-iii371
Author(s):  
Andge Valiakhmetova ◽  
Ludmila Papusha ◽  
Ludmila Yasko ◽  
Alexander Druy ◽  
Alexander Karachunsky ◽  
...  
Keyword(s):  
Mapk Pathway ◽  
Braf Inhibitor ◽  
Complete Response ◽  
Mek Inhibitor ◽  
Braf V600e ◽  
Glioneuronal Tumor ◽  
Low Grade ◽  
Conventional Chemotherapy ◽  
Diffuse Leptomeningeal Glioneuronal Tumor ◽  
Braf Fusion

Abstract Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an extremely rare disease, newly recognized in the 2016 WHO classification of tumors of the CNS. Most DLGNTs are low-grade neuroepithelial tumors with variable elements of neuronal/neurocytic and glial differentiation, have diffuse leptomeningeal enhancement on MRI, and typically harbor KIAA1549-BRAF fusions. Other alterations, such as the BRAF V600E substitution, are less common. Here, we present three cases of DLGNT with different presentations and outcomes. The first patient is a 2yr-old male with KIAA1549-BRAF fusion, and was treated with Carbo/VCR chemotherapy after a biopsy, with resultant ongoing stable disease for 3.5 years. The second patient, an 8yr-old male had the BRAF V600E point mutation and was treated with conventional chemotherapy (VCR/carboplatin). On progression, he received the BRAF inhibitor vemurafenib, achieving a complete response which last 14 month. The third patient, a 27 month old male, harbored a KIAA1549-BRAF fusion and was treated at diagnosis with the MEK inhibitor trametinib. The tumor has been radiographically stable in the context of clinical improvement for 21 months since the treatment initiation, ongoing 24 month. In summary, we present further evidence of MAPK pathway alterations in children with DLGNT. We describe a range of molecular presentations and clinical outcomes, including one patient treated with conventional chemotherapy with further stabilization of disease during 3.5 years and two patients who were successfully treated with targeted therapy.

Diffuse leptomeningeal glioneuronal tumor (DLGNT) mimicking Whipple’s disease: a case report and literature review

2017 ◽  
Vol 33 (8) ◽  
pp. 1411-1414 ◽  
Author(s):  
Vega Karlowee ◽  
Manish Kolakshyapati ◽  
Vishwa Jeet Amatya ◽  
Takeshi Takayasu ◽  
Ryo Nosaka ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Glioneuronal Tumor ◽  
Whipple’S Disease ◽  
Whipple's Disease ◽  
Diffuse Leptomeningeal Glioneuronal Tumor

DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR IN CHILDREN: MR CHARACTERISTICS, CLINICAL FEATURES AND OUTCOME. FOUR CLINICAL CASES

2021 ◽  
Vol 20 (1) ◽  
pp. 42-55
Author(s):  
A. F. Valiakhmetova ◽  
L. I. Papusha ◽  
A. V. Artemov ◽  
G. V. Tereshchenko ◽  
E. A. Sal’nikova ◽  
...  
Keyword(s):  
Fusion Gene ◽  
Molecular Genetic ◽  
Complete Response ◽  
Mek Inhibitor ◽  
Braf V600e ◽  
Glioneuronal Tumor ◽  
Molecular Testing ◽  
Genetic Characteristics ◽  
Diffuse Leptomeningeal Glioneuronal Tumor ◽  
Braf Fusion

Background. Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an extremely rare entity first officially recognized in 2016 WHO classification of tumors of the central nervous system. Magnetic resonance imaging (MRI) of this tumor usually visualizes diffuse meningeal infiltration with contrast enhancement, with the presence of multiple small contrast‑negative cysts, visible mainly in the T2 images. The main molecular markers of DLGNTs include the KIAA1549-BRAF fusion gene, BRAF V600E substitution is less common.The aim of this work is to describe the manifestation of DLGNT, its neuroimaging and molecular genetic characteristics, the experience of using anti‑BRAF and anti‑MEK therapy.Materials and methods. In this article are described four cases of DLGNT. The first patient with the presence of the KIAA1549-BRAF fusion in the tumor tissue received a full course of SIOP‑LGG / 2004 chemotherapy (carbo‑ platin and vincristine), the stabilization of the disease on the MRI remains for 4 years after completion of treatment. Second patient with KIAA1549-BRAF fusion gene in tumour tissue received MEK inhibitor trametinib as first line of treatment with the stabilization of the disease on control MRI which last for 2 years. A third patient with a mutation in the BRAF V600E gene. After disease progression on standard chemotherapy (carboplatin and vincristine) according to the SIOP‑LGG / 2004 protocol, anti‑BRAF therapy with vemurafenib was prescribed. After 10 months on MRI a complete response was recorded, which persists during the drug intake for 2.5 years. In the fourth patient, no molecular genetic aberrations were detected; a refractory / progressive course of the dis‑ ease was noted. To date, the stabilization of the disease is recorded on the fourth line of chemotherapy (everoli‑ mus and temozolomide).Conclusion. Given the rarity of this tumor and the lack of consensus about therapy, despite the limited number of observations, our experience allows us to recommend molecular testing of DLGNT to detect activating events in the BRAF gene, as well as consideration of anti‑BRAF / MEK therapy if either the BRAF V600E mutation is de‑ tected or KIAA1549-BRAF fusion.

Rosette-forming glioneuronal tumor (RGNT) of the fourth ventricle: Case report and review of literature

2010 ◽  
Vol 112 (4) ◽  
pp. 362-364 ◽  
Author(s):  
ShiHai Luan ◽  
DongXiao Zhuang ◽  
LinLin Sun ◽  
Feng-Ping Huang
Keyword(s):  
Case Report ◽  
Fourth Ventricle ◽  
Glioneuronal Tumor ◽  
Review Of Literature

scholarly journals RARE-48. CHARACTERISTICS AND OUTCOME OF DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR (DLGNT): A SINGLE INSTITUTION EXPERIENCE

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii452-iii452
Author(s):  
Emily Owens Pickle ◽  
Ana Aguilar-Bonilla ◽  
Amy Smith
Keyword(s):  
Mapk Pathway ◽  
Clinical History ◽  
Mek Inhibitor ◽  
Glioneuronal Tumor ◽  
Unknown Etiology ◽  
Leptomeningeal Disease ◽  
Low Grade ◽  
Diffuse Leptomeningeal Glioneuronal Tumor ◽  
Braf Fusion ◽  
Chemotherapy Patients

Abstract Diffuse leptomeningeal glioneuronal tumors (DLGNT) are rare with an unknown etiology and unestablished incidence. Most frequently reported genetic alteration is KIAA1549-BRAF fusion. We present four DLGNT cases diagnosed between 2005–2018. Patient 1 is a female who presented with a 2-year history of back pain subsequently diagnosed with pilocytic astrocytoma. Re-imaging 3 months post-resection revealed a low grade glioneuronal tumor with BRAF duplication. Patient 2 is a female who presented with recurrent vomiting, dizziness, and hydrocephalus. The patient underwent biopsy which was consistent with oligodendrogliomatosis; no genetic analysis was done. Patient 3 is a male who presented with worsening headaches and intermittent vomiting. Approximately 5 months after resection, imaging showed leptomeningeal disease and further testing revealed KIAA1549-BRAF fusion and 1p deletion. Patient 4 is a male who presented with hydrocephalus. Imaging showed disseminated leptomeningeal enhancement without a dominant mass lesion; biopsy and clinical history confirmed the diagnosis. All four patients received chemotherapy, Patients 1 and 3 underwent radiation therapy, and Patient 3 received a MEK-inhibitor to which he had a great response. However, the patient was non-compliant and had PD which continued despite re-starting therapy. Patients 1, 2, and 3 have died of progressive disease; survival was Patient 1, 276 days, Patient 2, approximately 7 years and 8 months, and Patient 3, 2 years and 11 months. Patient 4 remains alive with disease 4.5 years from diagnosis. There is much to be learned about this rare, poorly understood disease but hope for improvement through therapeutic targeting of the MAPK pathway.

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