Precision Cancer Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.
Br J Haematol. 2023 Oct;203(2):282-287. doi: 10.1111/bjh.19008. Epub 2023 Jul 31.
Donor-derived haematological neoplasms, in which recipients present with haematological malignancies that have evolved from transplant donor stem cells, have previously been described for myelodysplastic syndrome, myeloproliferative neoplasms, acute myeloid leukaemia and less often, leukaemias of lymphoid origin. Here we describe a rare and complex case of donor-derived T-cell acute lymphoblastic leukaemia with a relatively short disease latency of less than 4 years. Through genomic and in vitro analyses, we identified novel mutations in NOTCH1 as well as a novel activating mutation in STAT5B; the latter targetable with the clinically available drugs, venetoclax and ruxolitinib.
供者源性血液系统肿瘤是指受者出现了源自移植供者干细胞的血液系统恶性肿瘤,此前已有骨髓增生异常综合征、骨髓增殖性肿瘤、急性髓系白血病的相关报道,而淋巴系白血病则较为少见。在此,我们报告了一例罕见且复杂的供者源性 T 细胞急性淋巴细胞白血病病例,潜伏期相对较短,不足 4 年。通过基因组和体外分析,我们发现了 NOTCH1 中的新突变以及 STAT5B 的新激活突变;后者可使用临床上可用的药物 venetoclax 和 ruxolitinib 进行靶向治疗。