Acute Promyelocytic Leukemia with t(11;17)(q23.2;q21.2) Treated with Haploidentical Transplantation Using Post-transplant Cyclophosphamide.
Yujiro Ito, Ayato Sumioka, Ibuki Takatsuka et al.
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Case in brief
A 55-year-old man presented with acute promyelocytic leukemia (APL), diagnosed from its distinctive morphology. Subsequent cytogenetic testing identified t(11;17)(q23.2;q21.2), suggesting a ZBTB16::RARA fusion. After conventional chemotherapy, he underwent haploidentical transplantation with post-transplant cyclophosphamide and maintained long-term remission.
What made this case unusual
The leukemia had the atypical t(11;17)(q23.2;q21.2) translocation rather than the more common t(15;17), with the fusion gene suggested by cytogenetic findings.
Diagnostic / clinical pearl
Distinctive morphology can support an APL diagnosis even when cytogenetic testing later reveals an atypical translocation; cytogenetic characterization can refine the diagnostic picture.