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B-ALL with ETV6::RUNX1 fusion

Author: ; Ke Xu, MD, 06/24/2026
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Precursor Lymphoid Neoplasms > B-lymphoblastic leukemia/lymphoma > B-Lymphoblastic Leukemia/Lymphoma, with recurrent genetic abnormalities > B-Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13;q22); ETV6-RUNX1
Published Date: 07/21/2026

A 15-year-old male presented with anemia, thrombocytopenia and was generally unwell. Bone marrow aspirate was effaced with medium-sized agranular blasts. These blasts had immature chromatin and prominent vacuolation. By flow cytometry, these blasts were positive for CD34, HLADR, CD33, CD19, CD10, CD13, CD38, cCD79a, cTDT and cCD34, and were negative for cCD3 and cMPO. Myeloid NGS detected NF1, RB1, RUNX1, SF3B1 and SH2B3 variants and an ETV6::RUNX1 E5R3 fusion. ETV6::RUNX1 is the most common translocation in childhood B-ALL. B-ALL with ETV6::RUNX1 fusion has a favourable prognosis.  

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