Background Abnormalities of chromosome 16 are found in about 5-8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favorable overall survival (OS) when treated with high-dose Cytarabine. At the inversion breakpoints, deletion of 3'CBFB has been reported, but most of them were studied by chromosome and fluorescence in situ hybridization (FISH) analyses. The genomic characteristics of such deletions remain largely undefined, hindering further understanding of the clinical significance of the deletions. Case presentation We report here two AML cases with inv(16) and deletion of the 5'MYH11/3'CBFB gene fusion, which were characterized by chromosome, FISH, and single nucleotide polymorphism (SNP) microarray analyses. Both cases have achieved CR for more than three years. Conclusions Deletion of 3'CBFB in AML with inv(16) is also accompanied with deletion of 5'MYH11 in all the cases studied by SNP microarray, suggesting that 3'CBFB and 5'MYH11 were most likely deleted together as a fusion product of inv(16) instead of occurring separately. In concert with the findings of other published studies of similar patients, our study suggests that deletion of 5'MYH11/3'CBFB in AML with inv(16) may not have negative impact on the prognosis of the disease.

中文翻译：

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inv(16)(p13.1q22) 和 5'MYH11/3'CBFB 基因融合缺失的急性髓细胞白血病：附 2 例报告并文献复习。

背景 大约 5-8% 的急性髓性白血病 (AML) 中发现了 16 号染色体异常。具有 inv(16)(p13.1q22) 或 t (16;16)(p13.1;q22) 的 AML 与高完全缓解率 (CR) 和良好的总生存期 (OS) 相关。剂量阿糖胞苷。在倒位断点处，3'CBFB 缺失已有报道，但其中大部分是通过染色体和荧光原位杂交 (FISH) 分析进行研究的。这种缺失的基因组特征在很大程度上仍未确定，阻碍了对缺失临床意义的进一步理解。病例介绍 我们在此报告了两个具有 inv(16) 和 5'MYH11/3'CBFB 基因融合缺失的 AML 病例，其特征在于染色体、FISH 和单核苷酸多态性 (SNP) 微阵列分析。两个案例均已实现 CR 超过三年。结论 在 SNP 微阵列研究的所有病例中，inv(16) AML 中 3'CBFB 的缺失也伴随着 5'MYH11 的缺失，这表明 3'CBFB 和 5'MYH11 最有可能作为inv(16) 而不是单独发生。与其他已发表的类似患者研究的结果一致，我们的研究表明，在具有 inv(16) 的 AML 中缺失 5'MYH11/3'CBFB 可能不会对该疾病的预后产生负面影响。MYH11 很可能作为 inv(16) 的融合产物一起被删除，而不是单独发生。与其他已发表的类似患者研究的结果一致，我们的研究表明，在具有 inv(16) 的 AML 中缺失 5'MYH11/3'CBFB 可能不会对该疾病的预后产生负面影响。MYH11 很可能作为 inv(16) 的融合产物一起被删除，而不是单独发生。与其他已发表的类似患者研究的结果一致，我们的研究表明，在具有 inv(16) 的 AML 中缺失 5'MYH11/3'CBFB 可能不会对该疾病的预后产生负面影响。