• Jason Patterson, Kathryn Clarke, Katya Mokretar, Manisha Maurya, Amy Logan, Nicholas Cunningham, Mark Catherwood, and Mary Frances McMullin.
• Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK.
• Ir J Med Sci. 2024 Jul 20.

AbstractAcute promyelocytic leukaemia (APL) with a STAT5b::RARα gene fusion is an extremely rare subtype of APL characterised by resistance to conventional therapies and extremely poor prognosis. This case highlights that whilst APL with variant RARα translocations are rare, they do pose significant challenges both diagnostically and in their clinical management. This case, in the first instance, demonstrates the importance of using a combination of molecular techniques including next generation sequencing (NGS) for diagnosis particularly in morphological and immunophenotypic typical APL which appears negative by confirmatory testing. Secondly, our patient represents, to the best of our knowledge, the first documented example of this rare disease that has been managed with, and shown sensitivity to low-dose cytarabine (LDAC) in combination with venetoclax (Ven). This case demonstrates that although treatment options are extremely limited for patients not eligible for intensive chemotherapy non-intensive options do show increasing promise.© 2024. The Author(s).

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