Genetic Markers and Mutations in Primary Spinal Cord Tumors and Their Impact on Clinical Management

TL;DR

This paper reviews how genetic markers in spinal cord tumors influence diagnosis and treatment, shifting from traditional methods to molecular-based approaches.

Contribution

The paper highlights the integration of genetic data into clinical practice for spinal cord tumors, emphasizing its impact on prognosis and treatment.

Findings

Genetic alterations define spinal cord tumor subtypes and influence prognosis.

Molecular diagnostics improve risk stratification and guide targeted therapies.

Challenges include rarity of tumors and limited access to molecular testing.

Abstract

Primary spinal cord tumors are rare neoplasms representing 2–4% of central nervous system tumors. Despite their low incidence, their impact on neurological function is profound. Historically, tumor classification and management have relied primarily on histopathology. However, advances in molecular diagnostics have highlighted the critical role of genetic alterations in tumor behavior, prognosis, and treatment response. This narrative review summarizes current evidence on genetic mutations in primary intramedullary spinal cord tumors, focusing on their prognostic value and implications for clinical management. Emphasis is placed on the integration of genetic features into diagnostic criteria and clinical practice, as distinct molecular profiles define many spinal cord tumor subtypes. Integration of molecular diagnostics into spinal cord tumor management represents a paradigm shift from morphology-based to biology-driven practice. Genetic alterations inform prognosis, refine risk stratification, and increasingly guide therapeutic decision-making, including the use of targeted therapies and adjuvant radiation. Despite progress, challenges remain due to the rarity of these tumors, small sample sizes, and limited access to molecular testing. Ultimately, molecular precision promises to enhance survival and quality of life for patients with these rare but impactful tumors.

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