Background

B lymphoblastic leukemia/lymphoma with the t(12;21)(p13;q22); ETV6-RUNX1 translocation is a rare neoplasm primarily affecting B-cell lymphoblasts characterized by chromosomal translocation between the ETV6 gene on chromosome 12 and the RUNX1 gene on chromosome 21. This condition predominantly affects children. Standard treatments include chemotherapy, hematological transplants, or endocrine therapies, achieving a cure rate of over 90% in pediatric cases. Evaluating the influence of demographic and clinical factors on risk and treatment outcomes for this genetic variant could provide valuable insights.

Methods

We performed a retrospective cohort study using data from the National Cancer Database (NCDB), examining 528 patients diagnosed with B lymphoblastic leukemia/lymphoma t(12;21)(p13;q22); ETV6-RUNX1between 2010 and 2020. We focused on demographic and clinical factors, including race, sex, age, median household income, insurance status, treatment modalities, and Charlson-Deyo comorbidity scores.

Results

The average age at diagnosis was 10 years (SD = 16.15, range = 0 – 89 years, IQR = 5), with a gender distribution of 56% males and 44% females. Most patients (92%) had no comorbidities (Charlson-Deyo score of 0). The majority were white (82%) and non-Hispanic (79%). Insurance coverage was predominantly private (48%) and Medicaid (42%). Most patients (58%) were in the top two income quartiles, with a median household income exceeding $57,850. Treatment was primarily chemotherapy (98%), with additional therapies including hormone therapy (56%), immunotherapy (5%), and radiation therapy (4%).

Conclusions

To the best of our knowledge, this study is the first to utilize the NCDB to investigate demographic factors in patients with B lymphoblastic leukemia/lymphoma t(12;21)(p13;q22); ETV6-RUNX1. Our findings reveal that the majority of affected patients are non-Hispanic white children with private insurance and incomes over $57,850. The predominant treatment modality is chemotherapy, with hormone therapy also commonly used.