Exploring the unknown: rare primary brain tumors — diagnosis and treatment

Abstract

Rare primary brain tumors constitute a heterogeneous and clinically significant group of neoplasms that, despite comprising only 1–2% of all primary brain tumors, present unique diagnostic and therapeutic challenges. This review highlights the complexities associated with these tumors, encompassing their classification, diagnosis, and management. The introduction of molecular diagnostics by the 2021 WHO classification has revolutionized the understanding of these tumors, enabling precision medicine and tailored treatments. 

Key findings include the importance of advanced imaging modalities, such as MRI and CT, coupled with histopathological and molecular studies for accurate diagnosis. A multidisciplinary approach remains central to management, with surgical resection as the cornerstone of treatment, often complemented by radiotherapy and, in some cases, chemotherapy. The review underscores the emerging role of targeted therapies, such as BRAF and mTOR inhibitors, which have shown promise in specific tumor subtypes. 

Prognostic factors, including tumor grade, genetic mutations, extent of resection, and patient age, critically influence outcomes. While low-grade tumors like gangliogliomas demonstrate excellent survival rates following complete resection, high-grade tumors, such as medulloblastomas and pineoblastomas, necessitate aggressive multimodal treatments. Despite progress, significant gaps in knowledge persist, highlighting the need for large-scale research initiatives to refine diagnostic and therapeutic strategies further. 

This study concludes by emphasizing the importance of personalized, patient-centered care and the need for continued innovation and collaboration in neuro-oncology. By addressing these challenges, the field can advance the understanding and management of rare primary brain tumors, ultimately improving patient outcomes and quality of life.