OBJECTIVE: To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene. METHODS: A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001). RESULTS: Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively. CONCLUSION The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans ; Male ; Child ; Female ; Leukemia, Myeloid, Acute/drug therapy* ; Oncogene Proteins, Fusion/genetics* ; Translocation, Genetic ; Retrospective Studies ; RNA-Binding Protein FUS/genetics* ; Chromosomes, Human, Pair 16/genetics* ; Adolescent ; Child, Preschool ; Chromosomes, Human, Pair 21/genetics* ; Prognosis ; Treatment Outcome

Objective A precise microinvasive robot system coupled with a cooperative robot matrix and an end effector of a wire-controlled microvariable path robot was proposed.A puncture needle structure,including the rigid body of the outer needle,non-uniform flexible body of the inner needle,force control wire,internal imaging of the image fiber,and other components,was designed to verify the feasibility of this system.Methods By constructing the puncture structure of the puncture robot,the structural optimization design of the key components affecting the variable-path precision puncture needle was analyzed by constructing the puncture structure of a puncture robot.Based on the orthogonal experimental design method,a three-factor and three-level experiment that primarily affected the accuracy of the puncture needle was designed,namely,the starting distance of the hole center from the edge,the diameter of the hole,and the distance between the two holes.The experiment was verified and simulated using a real object.Results The displacement of the titanium-nickel needle tip had a significant relationship with the starting distance of the hole center from the edge,and the main and secondary influencing factors were as follows:starting distance of the hole center from the edge>hole diameter>hole distance.When the starting distance of the hole center from the edge was 1 mm,the diameter of the hole was 0.2 mm,and the distance between the two holes was 2.6 mm,the displacement of the titanium-nickel needle tip was the maximum value.Conclusions The experiment verified the functional applicability of the designed system and the linear elastic hysteresis characteristics of variable path puncture,providing a reference for further in vivo experiments and system optimization.