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Clin Cancer Res. 2017 Jun 15;23(12):e46-e53. doi: 10.1158/1078-0432.CCR-17-0589.

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1.

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Manchester Centre for Genomic Medicine, University of Manchester, Manchester, United Kingdom.
Manchester Academic Health Science Centre, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
Department of Pediatric Onco-Hematology and Developmental Tumor Biology Laboratory, Hospital Sant Joan de Deu, Barcelona, Spain.
Department of Pediatrics, Division of Pediatric Hematology-Oncology Children's Discovery and Innovation Institute, University of California, Los Angeles, California.
Jonsson Comprehensive Cancer Center, University of California, Los Angeles, California.
David Geffen School of Medicine, Los Angeles, California.
Weizmann Institute of Science, Rehovot, Israel.
Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Hematology, Oncology, and Bone Marrow Transplant, University of Colorado Denver, Children's Hospital Colorado, Aurora, Colorado.
Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an SA Pathology & UniSA alliance, Adelaide, Australia.
Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
Division of Haematology/Oncology, University of Toronto, Toronto, Ontario, Canada.
Research Institute and The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.


Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particularly in children fulfilling only pigmentary features of the diagnostic criteria. Although cancer risk is not the major issue facing an individual with NF1 during childhood, the condition causes significantly increased malignancy risks compared with the general population. Specifically, NF1 is associated with highly elevated risks of juvenile myelomonocytic leukemia, rhabdomyosarcoma, and malignant peripheral nerve sheath tumor as well as substantial risks of noninvasive pilocytic astrocytoma, particularly optic pathway glioma (OPG), which represent a major management issue. Until 8 years of age, clinical assessment for OPG is advised every 6 to 12 months, but routine MRI assessment is not currently advised in asymptomatic individuals with NF1 and no signs of clinical visual pathway disturbance. Routine surveillance for other malignancies is not recommended, but clinicians and parents should be aware of the small risks (<1%) of certain specific individual malignancies (e.g., rhabdomyosarcoma). Tumors do contribute to both morbidity and mortality, especially later in life. A single whole-body MRI should be considered at transition to adulthood to assist in determining approaches to long-term follow-up. Clin Cancer Res; 23(12); e46-e53. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.

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