Type 1 neurofibromatosis in a three-year-old girl with B-lineage acute lymphocytic leukemia:A case report / 中南大学学报(医学版)

ABSTRACT

Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disease first manifesting in childhood, which affects multiple organs, childhood development and neurocognitive status. These patients have a high predisposition to develop both benign and malignant tumors. On September 30, 2018, a rare case of NF1 with B-lineage acute lymphocytic leukemia (ALL) was treated in the Department of Pediatrics, Third Xiangya Hospital, Central South University. The child presented with café au lait macules (CALM) since the date of birth. And the diagnosis of B-lineage ALL was made by bone marrow cytomorphologic examination and immunological phenotype detection. ETV6/RUNX1 fusion gene was positive. Also, a de novo mutation of c. 2773delT (p. Leu925Ter) was found in the exon of NF1 gene by gene sequencing, which was a nonsense mutation and led to the premature termination of peptide synthesis. Molecular genetic testing is recommended to confirm NF1, particularly in children with only pigmentary features of the diagnostic criteria. NF1-affected individuals should be referred to a specialist of NF1 clinical network for long-term follow-up and surveillance.