Diffuse leptomeningeal glioneuronal tumor in an 8-year-old girl: case report and review of the literature

Cambruzzi, Eduardo; Medeiros, Mateus Scarabelot; Cardoso, Carmo Eduardo; Silva, Guilherme Alberto Germano; Schlotte, Kelly; Kus, Willian Pegoraro

doi:10.1007/s00381-022-05625-1

Cited by 3 publications

(2 citation statements)

References 11 publications

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“…These tumors contain recurrent genetic alterations, with KIAA1549 - BRAF gene fusion being the most frequent [ 10 , 11 ]. A 1p deletion is frequently identified [ 5 , 10 , 11 ].…”

Section: Discussionmentioning

confidence: 99%

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Aggressive Diffuse Leptomeningeal Glioneuronal Tumor in a Pediatric Patient Presenting With Mismatch Repair Gene Mutations

Torres-Rey,

Vigo-Prieto,

De Jesus

2023

Cureus

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Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare primary central nervous system tumor. We present the case of a five-year-old male patient with a rapid progression of a thoracic DLGNT. Initial presentation and workup confirmed acute communicating hydrocephalus requiring a ventriculoperitoneal shunt. Cerebrospinal fluid analysis showed hyperproteinorrachia. Additional workup demonstrated an intramedullary mass at the conus medullaris associated with leptomeningeal enhancement. A T10-T12 laminoplasty with tumor resection was performed. Immunohistochemistry was positive for glial fibrillary acid protein and synaptophysin, with a negative epithelial membrane antigen. The tumor had a Ki67 proliferation index of 9%. Gene tumor analysis revealed the presence of the KIAA1549 - BRAF gene fusion. The tumor expressed MSH6 , MLH1 , MSH2 , and PMS2 mismatch repair gene mutations. Multiple subsequent shunt revisions were performed due to malfunction secondary to the hyperproteinorrachia. Follow-up studies showed extensive brain and spinal nodular cystic lesions associated with extensive leptomeningeal spread of disease. The patient received chemotherapy but died due to disease progression. This case report described a rapidly progressive and aggressive DLGNT in a pediatric patient presenting mismatch repair gene mutations. Due to hyperproteinorrachia, shunt revisions are frequently needed in these patients. Even though DLGNT pathology can depict a low-grade tissue, some tumors behave aggressively with minimal significant response to medical and surgical treatments. Mutations of mismatch repair genes MSH6 , MLH1 , MSH2 , and PMS2 may be associated with more aggressive tumors.

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“…These tumors contain recurrent genetic alterations, with KIAA1549 - BRAF gene fusion being the most frequent [ 10 , 11 ]. A 1p deletion is frequently identified [ 5 , 10 , 11 ].…”

Section: Discussionmentioning

confidence: 99%

“…These tumors contain recurrent genetic alterations, with KIAA1549 - BRAF gene fusion being the most frequent [ 10 , 11 ]. A 1p deletion is frequently identified [ 5 , 10 , 11 ]. This case presents a rare mismatch repair gene mutation associated with Lynch syndrome, which has never been reported in patients with DLGNT.…”

Section: Discussionmentioning

confidence: 99%

Aggressive Diffuse Leptomeningeal Glioneuronal Tumor in a Pediatric Patient Presenting With Mismatch Repair Gene Mutations

Torres-Rey,

Vigo-Prieto,

De Jesus

2023

Cureus

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Understanding diffuse leptomeningeal glioneuronal tumors

Bajin,

Levine,

Dewan

et al. 2024

Childs Nerv Syst

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Local intracerebral form of diffuse leptomeningeal glioneuronal tumor – a new entity of the group of epileptogenic neoplasms?

Khalilov,

Kislyakov,

Kholin

et al. 2024

Rus. ž. det. nevrol.

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Diffuse leptomeningeal glioneuronal tumor was introduced into the World Health Organization classification of central nervous system tumors in 2016. According to the actual World Health Organization classification of central nervous system tumors emerged in 2021, its reliable verification requires the combination of specific pathomorphological and molecular-genetic features as well as data of the neuroimaging. Typically occurring in children and adolescents these tumors are characterized by widespread diffuse leptomeningeal dissemination along the neuraxis and demonstrate a tendency to abundant contrast enhancement resulting in a specific magnetic resonance imaging appearance. Despite this, and the rather rare incidence, a number of publications have reported an increasing number of atypical cases of diffuse leptomeningeal glioneuronal tumor suggesting that the spectrum of clinical manifestations, molecular-genetic and radiological criteria of this tumor is not fully disclosed and requiring further comprehensive investigations. The article presents the experience of complex, interdisciplinary diagnosis of diffuse leptomeningeal glioneuronal tumor with atypical radiological picture in a child with focal structural epilepsy.

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Diffuse leptomeningeal glioneuronal tumor in an 8-year-old girl: case report and review of the literature

Cited by 3 publications

References 11 publications

Aggressive Diffuse Leptomeningeal Glioneuronal Tumor in a Pediatric Patient Presenting With Mismatch Repair Gene Mutations

Aggressive Diffuse Leptomeningeal Glioneuronal Tumor in a Pediatric Patient Presenting With Mismatch Repair Gene Mutations

Understanding diffuse leptomeningeal glioneuronal tumors

Local intracerebral form of diffuse leptomeningeal glioneuronal tumor – a new entity of the group of epileptogenic neoplasms?

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