Genomic-wide Copy Number Variation Profile and a New IKZF1 Gene Variation in Chinese Adult Acute Lymphoblastic Leukemia

Tian Yuan, Yingchan Wang, Xiaoyan Li, Yan Li and Yingchang Mi

State Key Laboratory of Experimental Hematology, Chinese Academy of Medical Sciences and Peking Union
Medical College, China
Department of Hematology, Tianjin Medical University Cancer Institute and Hospital, China

^*Correspondance to: Yingchang Mi 

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Abstract:

Purpose: Copy Number Variation (CNV) and Loss of Heterozygosity (LOH) were investigated in adult Chinese patients with Acute Lymphoblastic Leukemia (ALL), and these patients were screened for adult ALL prognostic genes.
Methods: The CNV and LOH were detected with Affymetrix SNP 6.0 array. Using java and software R to construct the signal-net based on KEGG, enrichment the significant CNV genes associated with disease. Check the copy number variation of IKZF1 gene by FISH.
Results: In Ph+ B-ALL patients, the most frequent CNVs were gain at chr13q, loss at chr6 and recurrent LOH at chr17p and 1p33. In Ph- B-ALL patients, the most frequent CNVs were gain at chr7, loss at chr9p and recurrent LOH at chr15q. In T-ALL, the most frequent CNVs were gain at chr20 and 7q, loss at chr2p and recurrent LOH also at chr15q. These CNV regions included several
candidate genes such as IKZF1, JAK2, CDKN2A/2B, ETV6 etc. EGFR and IKBKG are in the center position of the Signal-Net, which may play essential role in ALL. The copy number amplification of IKZF1 gene is confirmed by FISH.
Discussion: CNV and LOH identification in adult ALL patients can identify susceptible genes, guide diagnostic classification, and help with treatment selection.

Keywords:

Copy number variation; Genomic; Acute lymphoblastic leukemia; Adult

Cite the Article:

Yuan T, Wang Y, Li X, Li Y, Mi Y. Genomic-wide Copy Number Variation Profile and a New IKZF1 Gene Variation in Chinese Adult Acute Lymphoblastic Leukemia. Clin Oncol. 2021;6:1778..