# BCOR, BCORL1, and BCL6 Mutations in Pediatric Leukemias

## TL;DR

This paper reports rare BCOR and BCORL1 gene mutations in pediatric AML and MDS patients, highlighting the need for further research to understand their impact.

## Contribution

The study presents a case series of BCOR/BCORL1 mutations in pediatric AML, which are rarely documented in this age group.

## Key findings

- BCOR and BCORL1 mutations were identified in pediatric and adolescent AML patients.
- These mutations are rare and their clinical significance in pediatric myeloid malignancies remains unclear.
- Larger studies are needed to determine the role of these mutations in disease progression and treatment.

## Abstract

Genetic changes play an important role in the development of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Some rare genetic mutations, specifically in the BCOR and BCORL1 genes, have been found in adult patients, but have not been well described in pediatric patients. In this report, we share a case series of pediatric and adolescent patients who have these specific mutations. While this helps shed light on a rare finding, more research with larger groups of patients is needed to truly understand what these mutations mean for young people with AML or MDS.

Somatic and epigenetic alterations contribute to myeloid leukemogenesis and play an important role in risk stratification and the optimization of treatment for myeloid malignancies. The significance of rare genetic alterations, such B-cell lymphoma-6 corepressor (BCOR) and B-cell lymphoma-6 corepressor-like protein 1 (BCORL1) mutations, in pediatric acute myeloid leukemias (AML) and myelodysplastic syndrome (MDS) is unknown. We present a case series of pediatric and adolescent patients, with de novo AML, harboring BCOR/BCORL1 mutations. Studies involving larger cohorts of patients are needed to further elucidate the role of BCOR/BCORL1 mutations in pediatric AML and MDS.