Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach.

Area of Science:

• Genetics
• Oncology
• Neurology

Background:

• Neurofibromatosis Type 1 (NF1) is a complex genetic tumor predisposition syndrome impacting multiple organ systems.
• NF1 arises from haploinsufficiency affecting neural crest lineage cells, leading to diverse pathologies.
• NF1 significantly reduces patients' quality of life (QOL) due to its wide-ranging manifestations.

Purpose of the Study:

• To comprehensively examine the multidisciplinary specialties essential for managing Neurofibromatosis Type 1 (NF1).
• To highlight the pathogenesis, clinical presentation, and management challenges of NF1.
• To emphasize the critical role of a multidisciplinary team (MDT) approach in improving NF1 patient outcomes and QOL.

Main Methods:

• Review of existing literature on Neurofibromatosis Type 1 (NF1) management.
• Examination of the pathogenesis and clinical manifestations of NF1.
• Analysis of the structure and function of multidisciplinary teams (MDTs) in NF1 care.

Main Results:

• NF1 necessitates a broad range of medical specialties for effective care.
• A multidisciplinary team (MDT) approach, guided by an NF expert, is vital for comprehensive NF1 management.
• Personalized and collaborative care within an MDT significantly enhances patient outcomes and QOL.

Conclusions:

• A multidisciplinary team (MDT) approach is fundamental for optimizing care in Neurofibromatosis Type 1 (NF1).
• Further research is needed to refine MDT workflows and enhance the efficacy of NF1 patient care.
• Improving the implementation and effectiveness of MDT strategies is key to better managing NF1.