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Neurofibromatosis from Head to Toe: What the Radiologist Needs to Know.
Mindy X Wang1, Jonathan R Dillman1, Jeffrey Guccione1
1From the Department of Radiology (M.X.W., C.T.J., K.M.E.) and Department of Lymphoma and Myeloma (S.K.), University of Texas MD Anderson Cancer Center, Pickens Academic Tower, 1400 Pressler St, Houston, TX 77030-4009; Department of Radiology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio (J.R.D.); Department of Radiology, Stanford University, Stanford, Calif (J.G.); Department of Radiology (A.H.) and Faculty of Medicine (M.M.), Alexandria University, Alexandria, Egypt; and Department of Radiology, Mayo Clinic Arizona, Phoenix/Scottsdale, Ariz (P.M.P.).
Neurofibromatosis type 1 (NF1) and type 2 (NF2) are distinct genetic disorders. Familiarity with their unique imaging features is crucial for accurate diagnosis, surveillance, and management of associated tumors and other manifestations.
Area of Science:
- Genetics and Molecular Biology
- Radiology and Medical Imaging
- Oncology
Background:
- Neurofibromatosis type 1 (NF1) and type 2 (NF2) are inherited neurocutaneous disorders caused by mutations in tumor suppressor genes.
- Despite common nomenclature, NF1 and NF2 are distinct conditions with diverse multisystem effects, including benign and malignant tumors.
Purpose of the Study:
- To review the genetics, molecular pathogenesis, clinical and pathological features, and imaging manifestations of NF1 and NF2.
- To emphasize the critical role of radiologists in the diagnosis, surveillance, and management of these conditions.
- To highlight the importance of lifelong multidisciplinary care for patients with NF1 and NF2.
Main Methods:
- Review of literature on NF1 and NF2, focusing on genetics, clinical presentation, and imaging findings.
- Categorization of NF1-associated abdominopelvic neoplasms by cellular origin.
- Discussion of classic and other manifestations for both NF1 and NF2.
Main Results:
- NF1 key features include café-au-lait macules, neurofibromas, optic pathway gliomas, and osseous lesions.
- NF1 is associated with various abdominopelvic neoplasms and carries risks of malignant peripheral nerve sheath tumors and intracranial tumors.
- NF2 classic manifestations include schwannomas, meningiomas, and ependymomas, with potential for shared cutaneous findings with NF1.
Conclusions:
- Radiologists must be proficient in recognizing the imaging features of NF1 and NF2 for timely diagnosis and management.
- Multidisciplinary management and surveillance are essential for individuals with NF1 and NF2 throughout their lives.
- Understanding the distinct genetic and clinical profiles of NF1 and NF2 is vital for optimal patient care.
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