Pediatric diffuse leptomeningeal glioneuronal tumor: Two clinical cases of successful targeted therapy

Valiakhmetova, Andge; Papusha, Ludmila; Druy, Alexander; Yasko, Ludmila; Ektova, Anastasia; Karachunsky, Alexander; Maschan, Alexei; Hwang, Eui-Hyoung; Novichkova, Galina; Packer, Roger J.

doi:10.1002/pbc.28478

Cited by 10 publications

(4 citation statements)

References 3 publications

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“…Two reported cases, one treated with subtotal resection and radiotherapy [8], and another one with GTR [13] have been disease stable without progression for 6 years and 18 months, respectively; the other 4 cases did not report outcomes at follow-up. Due to the uncommon nature of this condition, there are no standard therapeutic strategies that have proven to be effective [18]; current treatment alternatives include chemotherapy, radiation therapy, and surgery [8]. As a solitary mass is not usually identified, surgical intervention is not always an option.…”

Section: Discussionmentioning

confidence: 99%

Spinal Cord Diffuse Leptomeningeal Glioneuronal Tumor Presenting without Leptomeningeal Dissemination

et al. 2021

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Background and Importance: Diffuse leptomeningeal glioneuronal tumor (DLGNT) represents a provisional entity in the 2016 World Health Organization classification of tumors; it is characterized by a widespread leptomeningeal growth and oligodendroglial-like cytology. To this day, 4 pediatric patients have been reported to present with an isolated spinal cord tumor in the absence of leptomeningeal dissemination. Gross total resection (GTR) was achieved in only 1 patient. We present the clinical and technical nuances of this unique type of tumor, as well as the second reported case of GTR in a patient with DLGNT. Clinical Presentation: A 4-year-old boy presented to the emergency department after an episode of flaccid paralysis of bilateral lower extremities. MRI showed an intramedullary spinal cord tumor centered at T8. The patient was taken to the operative room, where a laminectomy and tumor resection were performed; cystic and solid tumor components were identified. Pathology report was consistent with DLGNT. After achieving GTR, patient is free of recurrence after a 15-month follow-up. Conclusion: No standard treatment for DLGNT has been identified. Current literature report surgery and chemotherapy with variable success rates. DLGNT presenting as an isolated intramedullary tumor is an uncommon condition which progression appears to be halted when treated promptly. Identifying solid and cystic components of this tumor is crucial for achieving GTR.

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Section: Discussionmentioning

confidence: 99%

Spinal Cord Diffuse Leptomeningeal Glioneuronal Tumor Presenting without Leptomeningeal Dissemination

et al. 2021

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“…The literature search yielded 26 articles dealing with DLGNT that clearly met our inclusion criteria:[ 1 - 5 , 7 - 9 , 11 - 14 , 18 - 20 , 24 , 27 , 28 , 30 - 35 , 37 , 38 ] 14 case report e 12 case series for a total of 100 treated patients. Our case was added to the total number.…”

Section: Resultsmentioning

confidence: 99%

Atypical and aggressive diffuse leptomeningeal glioneuronal tumor in a young adult: A case report and review of the literature

Policicchio

Boccaletti

Cuccu

et al. 2022

Surgical Neurology International

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Background: DLGNT is a rare tumor, commonly diagnosed in pediatric age; in most cases, the pathology presents a slow and indolent evolution. We present a case report of a young adult affected by DLGNT characterized by aggressive and atypical behavior. Case Description: A 21-year-old male presented with mild paraparesis and hypoesthesia with a D2 level. MRI scan of the brain and spine showed a dorsal intramedullary lesion; a diffuse craniospinal leptomeningeal thickening was also present. After a week, the neurological status deteriorated rapidly with paraparesis worsening and onset of acute hydrocephalus. The patient underwent external ventricular drain positioning; a C7-D4 laminectomy was subsequently performed with partial tumor resection. Histological examination revealed a DLGNT with aggressive aspects (Ki67 30%). Postoperatively, the patient showed an immediate mild worsening of the lower limbs deficit. After a few days, severe further neurological deterioration occurred with progressive motor deficit to the upper limbs and ultimately respiratory failure. Mechanical ventilation was necessary and the patient was transferred to the ICU; during the following weeks, he developed tetraplegia and underwent ventriculoperitoneal shunt positioning. By the time, the histological diagnosis was available, the clinical status would not allow radiotherapy or chemotherapy. The patient deceased approximately 90 days after hospitalization due to respiratory complications. Conclusion: DLGNT is a rare tumor; diagnosis requires a high index of suspicion and confirmation with biopsy. Although most cases have an indolent course, some patients may have aggressive forms. High proliferation index, hydrocephalus occurrence, and massive craniospinal leptomeningeal spread appear to be associated with worse prognosis.

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“…Radiotherapy’s role remains uncertain and should not be recommended as initial treatment considering insufficient data, the potential side effects, and the evidence of prolonged disease control in non-radiated patients [ 5 ]. Kinase inhibitors have been recently used with promising results [ 16 ]. Wiśniewski et al showed that Ki-67 greater than 7% was the most important prognostic factor for overall survival in DLGNT [ 17 ].…”

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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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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Pediatric diffuse leptomeningeal glioneuronal tumor: Two clinical cases of successful targeted therapy

Cited by 10 publications

References 3 publications

Spinal Cord Diffuse Leptomeningeal Glioneuronal Tumor Presenting without Leptomeningeal Dissemination

Spinal Cord Diffuse Leptomeningeal Glioneuronal Tumor Presenting without Leptomeningeal Dissemination

Atypical and aggressive diffuse leptomeningeal glioneuronal tumor in a young adult: A case report and review of the literature

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

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