Type 1 neurofibromatosis in a three-year-old girl with B-lineage acute lymphocytic leukemia:A case report
10.11817/j.issn.1672-7347.2020.190270
- VernacularTitle:1型神经纤维瘤病伴急性B系淋巴细胞白血病1例
- Author:
Mengwen ZHAO
1
;
Zhiheng CHEN
;
Jie SHEN
;
Mingyi ZHAO
Author Information
1. 中南大学湘雅三医院儿科,长沙410013
- Keywords:
neurofibromatosis type 1;
acute lymphocytic leukemia;
de novo mutation
- From:
Journal of Central South University(Medical Sciences)
2020;45(11):1378-1383
- CountryChina
- Language:Chinese
-
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.
