Analysis of the clinical characteristics of 28 children with NF1 mutation-positive acute leukemia and literature review

Objective: To summarize the clinical characteristics, treatment effects and survival outcomes of children with NF1 mutation-positive acute leukemia. Methods: : The clinical data and prognosis of 28 patients with NF1 mutation-positive acute leukemia treated at Beijing Children’s Hospital, Capital Medical University, between January 2017 and February 2024 were retrospectively analyzed. Results: : A total of 28 patients were included in the study, with a median follow-up of 16 (1.2–85.5) months. Twelve patients had acute lymphoblastic leukemia, of whom 75.0% were at intermediate risk. Complete response (CR) was achieved in the bone marrow after induction chemotherapy, with a minimal residual disease (MRD) of 1×10 -3 at Day 33. Fifteen patients had acute myeloid leukemia (AML), of whom 66.7% were at high risk. The CR rate in the bone marrow was 86.6% at Day 28. Eleven (73.3%) patients survived at the end of follow-up. One patient with acute promyelocytic leukemia had standard risk and a good response. The overall survival rate of children with NF1 mutations was comparable to that of children with no mutations. However, children with germline NF1 mutations had a poor prognosis compared with those with somatic mutations, especially in AML patients. The frequency of NF1 mutations was 2–87.7%. The clinical manifestations of 3 patients with neurofibromatosis included café-au-lait macules, freckles, xanthogranuloma, scoliosis, and benign intracranial lesions. Conclusion: Most NF1 mutations in children with acute leukemia are somatic mutations that do not affect overall survival. Children with leukemia complicated with neurofibromatosis should undergo lifelong follow-up.