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摘要: 探究AML-MTG16融合基因阳性的急性髓系白血病(acute myeloid leukemia，AML)患者的特点以及可能的致病机制。回顾性分析3例AML-MTG16融合基因阳性AML患者的临床资料并复习相关文献，探讨其临床特点。研究纳入AML-MTG16融合基因阳性AML患者3例，其中男1例，女2例，以成人为主，初诊时1例出现嗜酸性细胞增多；3例患者CD13、CD33、CD34均阳性，2例出现CD19共表达，其中1例伴cCD79a弱阳性；1例患者出现额外的+8染色体异常，2例合并GATA2基因突变，1例患者合并KRAS基因突变，1例患者合并BCOR基因、DNMT3A、U2AF1、NRAS突变。2例患者给予IA方案(去甲氧柔红霉素12 mg/m2/d×3 d +阿糖胞苷100~200 mg/m2/d×7 d)化疗后达完全缓解，后经异基因造血干细胞移植达持续缓解；1例患者行DAC+半程ECAG(地西他滨20 mg/m2×3 d，阿克拉霉素20 mg，隔日1次×3 d，阿糖胞苷10 mg/m2，每12 h 1次×7 d，粒细胞集落刺激因子300 μg，每日1次×7 d)方案化疗后缓解，后复发，行HD-Arac+VP16(阿糖胞苷2 g/m2，每12 h 1次×3 d，依托泊苷100 mg/m2/d×6 d)方案化疗后达CR2。AML-MTG16融合基因阳性多以成人为主，女性多见，部分患者可合并嗜酸性粒细胞增多，且预后不良。
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关键词:
- AML-MTG16 /
- 急性髓系白血病 /
- t(16；21)(q24；q22)
Abstract: To investigate the clinical characteristics and possible pathogenic mechanisms of AML-MTG16 fusion gene-positive acute myeloid leukemia(AML) patients. The clinical data of three AML-MTG16-positive AML patients were retrospectively analyzed, and the relevant literature were reviewed to explore their clinical characteristics. This study included 3 cases of AML-MTG16 fusion gene-positive AML patients, with one male and two females. The majority of patients were adults. One patient presented with an increase in eosinophil count at the initial diagnosis. All 3 patients were positive for CD13, CD33, and CD34. Two cases showed co-expression of CD19, and among them, one case had weakly positive cCD79a. Additionally, one patient presented with an additional abnormality of chromosome 8, two cases had GATA2 gene mutations, one patient had a KRAS gene mutation, and one case had concurrent mutations in BCOR gene, DNMT3A, U2AF1, and NRAS. Two cases achieved complete remission after receiving IA regimen(deoxyrubicin 12 mg/m2/d×3 d+cytarabine 100-200 mg/m2/d×7 d) followed by transplantation, maintaining sustained complete remission. One patient achieved complete remission after receiving DAC+half-ECAG(decitabine 20 mg/m2×3 d, aclacinomycin 20 mg, once every other day×3 d, cytarabine 10 mg/m2, once every 12 hours×7 d, granulocyte colony-stimulating factor 300 μg, once daily×7 d) regimen, but later relapsed and achieved CR2 after receiving HD-Arac+VP16(cytarabine 2 g/m2, once every 12 hours×3 d, etoposide 100 mg/m2/d×6 d) regimen. AML-MTG16-positive AML is predominantly seen in adults, with a higher prevalence in females. Some patients may also have an increase in eosinophils, and they generally have a poor prognosis.-
Key words:
- AML-MTG16 /
- acute myeloid leukemia /
- t(16；21)(q24；q22)
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表 1 3例t(16；21)(q24；q22)患者的临床和细胞遗传学特征
病例 性别 年龄/岁 诊断 既往疾病 嗜酸性粒细胞 染色体核型 基因突变 移植方式 生存/月 结局 1 女 10 AML-M5 无 未知 46，XX，t(16；21)(q24；q22)[10] KRAS基因G12D突变(VAF：30.1%) 异基因 >57 存活 2 女 20 AML 无 未知 46，XX，t(16；21)(q24；q22)[5]/47，idem，+der(1) t(1；?)(p31；?)[3]/46，XX[2] CSF3R基因Q776突变(VAF：3%)，GATA2基因L305V突变(VAF：5%)，GATA2基因T354M突变(VAF：49.5%) 未知 未知 未知 3 男 57 AML-M4 无 9.2%(骨髓) 48，XY，+8，+15，del(21)(q22)[4]/49，idem，mar[9]/49，idem，+6[5] BCOR基因突变(VAF：73.20%)，DNMT3A基因突变(VAF：42.80%)，GATA2基因突变(VAF：3.70%)，U2AF1基因突变(VAF：43.70%)，NRAS基因突变(VAF：44.60%) 异基因 >24 存活 
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