Treatment of a STAT5b::RARα positive case of APL in a patient not eligible for intensive chemotherapy.

Autor: Patterson J; Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK., Clarke K; Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK., Mokretar K; Cancer Genetics, Guy's Hospital, Synnovis, London, UK., Maurya M; Precision Medicine Centre, Queen's University Belfast, Belfast, Northern Ireland, UK., Logan A; Regional Molecular Diagnostics Service, Belfast City Hospital, Belfast, Northern Ireland, UK., Cunningham N; Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK., Catherwood M; Regional Molecular Diagnostics Service, Belfast City Hospital, Belfast, Northern Ireland, UK., McMullin MF; Centre for Medical Education, Queen's University Belfast, Belfast, Northern Ireland, UK. M.Mcmullin@qub.ac.uk.
Jazyk: angličtina
Zdroj: Irish journal of medical science [Ir J Med Sci] 2024 Jul 20. Date of Electronic Publication: 2024 Jul 20.
DOI: 10.1007/s11845-024-03751-0
Abstrakt: Acute 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).)
Databáze: MEDLINE
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