Coexistence of ETV6-RUNX1 and MLL aberration among pediatric acute lymphoblastic leukemia: case reports and a literature review

Background: It is known that ETV6-RUNX1 is usually related to favorable prognosis, but MLL aberration has been associated with poor prognosis among pediatric acute lymphoblastic leukemia (ALL). However, the outcome of coexistence of ETV6-RUNX1 and MLL aberration in pediatric ALL patients is unknown. Herein, we report 4 cases of the coexistence of ETV6-RUNX1 and MLL-partial tandem duplications (MLL-PTD) in pediatric ALL patients and show the favorable outcome, which was never reported before. Case Description: The frequency of coexistence of ETV6-RUNX1 and MLL aberration at our children’s medical center was calculated as 0.98% (4/410). All of them were ETV6/RUNX1-positive cases that exhibited MLL-PTD, and the 10-year event-free survival (EFS) and overall survival (OS) were both 75%. With the following keywords of “ETV6-RUNX1”, “MLL”, “children” and “acute lymphoblastic leukemia”, a literature search of coexistence of ETV6-RUNX1 and MLL aberration was conducted in the database of PubMed, and 4 articles were retrieved finally, involving 16 cases of children. Among the 16 cases of pediatric ALL, the age ranged from 2 to 7 years old, including 9 males and 7 females and the white blood cell (WBC) count was (2.66–68.6)×109/L. In terms of fusion genes, they all had positive ETV6/RUNX1. Among them, MLL deletion was exhibited among 8 ETV6/RUNX1-positive patients, and 2 cases of der(21) duplication. MLL allelic deletions were shown among the remaining ETV6/RUNX1-positive patients. All patients showed a favorable outcome. Conclusions: The results of our analysis primarily provide compelling evidence that cases with an MLL-PTD or other types of MLL aberration are in fact a distinct subentry among ETV6-RUNX1 B-cell ALL (B-ALL).