Rare and complex three-way t(8;11;21) translocation in core-binding factor acute myeloid leukemia transforming into refractory mediastinal myeloid sarcoma: cytogenetic and molecular insights.
Alexandre-Raphael Wery, Marie Dalborgo, Pierre Heimann et al.
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Case in brief
A young patient with core-binding factor acute myeloid leukemia (CBF-AML) and the RUNX1::RUNX1T1 fusion gene presented with a rare three-way t(8;11;21) translocation, alongside mutations in KIT, ASXL1, and TET2. This genetic complexity led to the transformation of the disease into a refractory mediastinal myeloid sarcoma, highlighting a more aggressive disease course than typically expected.
What made this case unusual
The case features a rare three-way translocation involving chromosomes 8, 11, and 21, which is not commonly associated with CBF-AML and contributed to the patient's poor prognosis.
Diagnostic / clinical pearl
Clinicians should be aware that complex cytogenetic abnormalities in CBF-AML, such as three-way translocations, can indicate a more aggressive disease course and poorer prognosis.
Why it matters
This case underscores the importance of thorough cytogenetic evaluation in CBF-AML, as atypical genetic findings may significantly alter expected outcomes and treatment strategies.