Wang L, Du F, Zhang H-M, Wang H-X
Department of Hematology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Tongji Medical College, Union Hospital, Department of Gastroenterology, Huazhong University of Science and Technology, Wuhan, China.
Braz J Med Biol Res. 2015 Jul;48(7):583-7. doi: 10.1590/1414-431X20154557. Epub 2015 May 26.
We report the case of a father and son diagnosed with atypical chronic myeloid leukemia (aCML). Both patients harbored SETBP1 mutations, which are present in 24.3% of aCML patients. Moreover, both shared the variant encoding p.Pro737His, but the aCML severity was greater in the son because of the presence of two other missense mutations causing p.Asp868Asn and p.Ser885Arg alterations. SETBP1 mutations may be associated with an adverse prognosis, so their detection would help in the diagnosis of aCML and the determination of a patient's prognosis.
我们报告了一例父子均被诊断为非典型慢性髓系白血病（aCML）的病例。两名患者均携带SETBP1突变，该突变存在于24.3%的aCML患者中。此外，两人都有编码p.Pro737His的变体，但由于存在另外两个导致p.Asp868Asn和p.Ser885Arg改变的错义突变，儿子的aCML病情更严重。SETBP1突变可能与不良预后相关，因此对其进行检测将有助于aCML的诊断和患者预后的判定。
