Jason Patterson, Kathryn Clarke, Katya Mokretar, Manisha Maurya, Amy Logan, Nicholas Cunningham, Mark Catherwood, Mary Frances McMullin
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Treatment of a STAT5b::RARα positive case of APL in a patient not eligible for intensive chemotherapy.
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.
期刊介绍:
The Irish Journal of Medical Science is the official organ of the Royal Academy of Medicine in Ireland. Established in 1832, this quarterly journal is a contribution to medical science and an ideal forum for the younger medical/scientific professional to enter world literature and an ideal launching platform now, as in the past, for many a young research worker.
The primary role of both the Academy and IJMS is that of providing a forum for the exchange of scientific information and to promote academic discussion, so essential to scientific progress.