The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists

Area of Science:

• Neuro-oncology
• Genetics
• Radiology

Background:

• The 5th edition of the WHO Classification of Tumors of the Central Nervous System (CNS) introduced new tumor predisposition syndromes (TPS).
• Neuroradiologists need to recognize these novel TPS for accurate diagnosis and genetic testing.
• Imaging findings in TPS-associated tumors are often similar to sporadic forms, necessitating a comprehensive approach.

Purpose of the Study:

• To review the novel tumor predisposition syndromes (TPS) introduced in the 5th edition of the WHO Classification of Tumors of the CNS.
• To discuss the phenotypic spectrum and genetic aspects of these TPS for neuroradiologists.
• To highlight the importance of genetic knowledge in diagnosing and understanding the heterogeneity of TPS.

Main Methods:

• Review of the 5th edition of the WHO Classification of Tumors of the CNS.
• Discussion of current knowledge on the phenotypic spectrum of new TPS.
• Analysis of the role of genetic mutations in TPS manifestation.

Main Results:

• The 5th edition of the WHO CNS tumor classification incorporates new TPS entities.
• Neuroradiological features alone are often insufficient for definitive TPS diagnosis.
• Genetic knowledge is essential for understanding the diversity and complexity of TPS, aiding in diagnosis and clinical management.

Conclusions:

• Neuroradiologists must be aware of the new TPS entities and their associated imaging patterns.
• Genetic information is critical for confirming TPS diagnoses and appreciating syndrome heterogeneity.
• This review provides valuable insights into newly classified and relevant TPS for neuro-oncology practice.