SynthesisChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2025
Pediatric low-grade brainstem glioma: a review of current diagnosis and treatment paradigms in the molecular era.
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Abstract
backgroundPediatric low-grade brainstem gliomas (pLGBG) are a rare and understudied diagnosis. The advent of molecular diagnostics has revolutionized pediatric neuro-oncology, and its application in the setting of pLGBG continues to grow. The aim of this review was to systematically summarize the current literature regarding how molecular data has impacted pLGBG diagnosis and treatment to date.
methodsSearches of multiple electronic databases from inception to January 2025 were conducted following PRISMA guidelines. Articles were screened against pre-specified criteria, and then, those that satisfied criteria were summarized.
resultsA total of 15 studies were included in this review. There were ten studies relating to molecular status to diagnosis, three studies relating molecular status to targeted treatment, and single studies relating molecular status to surgical and chemotherapy outcomes. No studies relating molecular status to radiation therapy outcomes were found. In terms of diagnosis, the most commonly reported molecular alteration in pLGBG was KIAA1549-BRAF fusion. Other prominent molecular alterations reported included BRAF V600E mutation and FGFR alterations. Targeted therapy outcomes were limited to case reports, which showed promising results using BRAF and MEK inhibition. There were many active clinical trials investigating the role of targeted therapy further in this setting using molecular data.
conclusionsThe use of molecular diagnostics is emerging to be promising in the setting of pLGBG, which historically has been under investigated due to its anatomical location. Preliminary studies indicate that knowledge of molecular status can influence both diagnosis and treatment. Targeted treatment is the most exciting avenue for this, with exciting anecdotal data in the literature, and multiple clinical trials underway at this time.
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