Patterson Jason, Clarke Kathryn, Mokretar Katya, Maurya Manisha, Logan Amy, Cunningham Nicholas, Catherwood Mark, McMullin Mary Frances
Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK.
Cancer Genetics, Guy's Hospital, Synnovis, London, UK.
Ir J Med Sci. 2024 Dec;193(6):2875-2881. doi: 10.1007/s11845-024-03751-0. Epub 2024 Jul 20.
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.
具有STAT5b::RARα基因融合的急性早幼粒细胞白血病(APL)是APL的一种极其罕见的亚型,其特征是对传统疗法耐药且预后极差。该病例突出表明,虽然具有变异RARα易位的APL很少见,但它们在诊断和临床管理方面确实带来了重大挑战。该病例首先证明了使用包括下一代测序(NGS)在内的分子技术组合进行诊断的重要性,特别是在形态学和免疫表型典型的APL中,这种APL在确证检测中呈阴性。其次,据我们所知,我们的患者是这种罕见疾病的首个有记录的病例,该病例采用低剂量阿糖胞苷(LDAC)联合维奈克拉(Ven)进行治疗,并显示出对其敏感。该病例表明,尽管对于不符合强化化疗条件的患者,治疗选择极其有限,但非强化治疗方案确实显示出越来越大的前景。