髓系白血病
髓样
突变
癌症研究
断点群集区域
生物
遗传学
医学
基因
作者
Giovanni Iaquinta,Emilia Scalzulli,Silvia Angeloni,Ida Carmosino,Alessandro Nanni Costa,Claudia Ielo,Mauro Passucci,Chiara Masucci,Maurizio Martelli,Paola Grammatico,Massimo Breccia
标识
DOI:10.1080/10428194.2023.2232495
摘要
Atypical chronic myeloid leukemia (aCML) is a rare MDS/MPN disease characterized by the absence of BCR::ABL1 rearrangement and well known typical mutations associated with myeloproliferative disorders. Mutational landscape associated with this disease was recently described with frequent involvement of SETBP1 and ETNK1 mutations. CCND2 mutations have not been frequently detected in MPN or MDS/MPN patients. We describe two cases of aCML with two CCND2 mutations in 280 and 281 codons which rapidly develop progressive characteristics, and we reviewed the literature about this unfavorable association, suggesting a role as a new possible marker of aggressive disease.
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