Novel t(1;8)(p31.3;q21.3) NFIA-RUNX1T1 Translocation in an Infant Erythroblastic Sarcoma

Area of Science:

• Hematology
• Pediatric Oncology
• Molecular Genetics

Background:

• Pure erythroid leukemia (PEL) is an exceptionally rare malignancy in children.
• Previous reports identified pediatric PEL cases with NFIA-CBFA2T3 fusions.

Observation:

• A female infant presented with cytopenias and an abdominal mass.
• Bone marrow and abdominal mass biopsies revealed blasts expressing erythroid and myeloid markers.
• The patient harbored a novel t(1;8)(p31.3;q21.3) NFIA-RUNX1T1 fusion.

Findings:

• The patient was diagnosed with PEL and erythroblastic sarcoma.
• RNA sequencing and karyotyping confirmed the NFIA-RUNX1T1 fusion.
• This case adds to the understanding of genetic abnormalities in pediatric PEL.

Implications:

• This case, along with prior reports, suggests a distinct clinicopathologic group of pediatric PELs.
• These PEL cases frequently exhibit extramedullary disease and recurrent NFIA gene rearrangements.
• Further research is warranted to elucidate the pathogenesis and treatment strategies for this rare pediatric leukemia subtype.