You are treating a 6-year-old girl who fell off her bike and broke her arm. She appears healthy in all other respects, however, during your examination you observe that she has several large and dark café-au-lait patches on her back and upper legs. As her physician you inform her parents that she may have inherited a mutated form of a gene called NF1. Which of the following would this child be most likely to experience as a result of a mutation in this gene?

Question

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Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots and the development of neurofibromas due to mutations in the NF1 gene. Germline mutations at the NF1 locus result in multiple abnormal melanocytes (café-aulait spots) and benign neurofibromas. Some patients also develop benign pheochromocytomas and CNS tumors. A small percentage of patients develop neurofibrosarcomas which are likely to be Schwann cell derived. Development of benign neurofibromas versus malignant neurofibrosarcomas may be the difference between inactivation of one NF1 allele versus both alleles, respectively.

You Are Treating a 6-Year-Old Girl Who Fell Off Her