Atypical Neurofibromatous Neoplasms of Uncertain Biological Potential in Children with Neurofibromatosis Type 1: Report of Two Patients and Review.
Nelly Marlene Román-Mendoza, Eunate Martí-Carrera, Daniel Azorín-Cuadrillero et al.
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Case in brief
Two pediatric patients with Neurofibromatosis Type 1 (NF1) presented with rapidly enlarging peripheral nodules. The first patient, a 13-year-old boy, had a lumbogluteal nodule that showed growth despite treatment with selumetinib. Imaging revealed a hypoechoic lesion, and excision confirmed atypical neurofibromatous neoplasm of uncertain biological potential (ANNUBP). The second patient, a 15-year-old girl, had a painful forearm mass, and resection also revealed ANNUBP. Both patients remain recurrence-free.
Diagnostic / clinical pearl
ANNUBP in children can present with atypical features such as hypercellularity and low-level mitotic figures, necessitating careful imaging and histological evaluation for accurate diagnosis.
Why it matters
Understanding the characteristics of ANNUBP can aid in distinguishing it from more aggressive tumors like malignant peripheral nerve sheath tumors, improving management and surveillance strategies.