Lv Lili, Yu Jingwei, Qi Zhongxia
1Department of Oncology and Hematology, The Second Hospital of Jilin University, Changchun, Jilin, China.
2Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA USA.
Mol Cytogenet. 2020 Jan 30;13:4. doi: 10.1186/s13039-020-0474-9. eCollection 2020.
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' 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.
We report here two AML cases with inv(16) and deletion of the 5'/3' 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.
Deletion of 3' in AML with inv(16) is also accompanied with deletion of 5' in all the cases studied by SNP microarray, suggesting that 3' and 5' 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'/3' in AML with inv(16) may not have negative impact on the prognosis of the disease.
约5%-8%的急性髓系白血病（AML）存在16号染色体异常。伴有inv(16)(p13.1q22)或t(16;16)(p13.1;q22)的AML患者接受大剂量阿糖胞苷治疗时，完全缓解（CR）率高，总生存期（OS）良好。在倒位断点处，已有3'端缺失的报道，但大多是通过染色体和荧光原位杂交（FISH）分析进行研究的。此类缺失的基因组特征仍基本不明，阻碍了对这些缺失临床意义的进一步理解。
我们在此报告两例伴有inv(16)及5'/3'基因融合缺失的AML病例，通过染色体、FISH和单核苷酸多态性（SNP）微阵列分析对其进行了特征描述。两例患者均已实现三年以上的CR。
通过SNP微阵列研究的所有病例中，伴有inv(16)的AML的3'端缺失也伴有5'端缺失，这表明3'端和5'端很可能作为inv(16)的融合产物一起缺失，而非单独发生。与其他已发表的类似患者研究结果一致，我们的研究表明，伴有inv(16)的AML中5'/3'端缺失可能对疾病预后无负面影响。
