Prognostic significance of copy number alterations detected by multi-link probe amplification of multiple genes in adult acute lymphoblastic leukemia

• Published in: Oncology letters Vol. 15; no. 4; pp. 5359 - 5367
• Main Authors: Fang, Qiuyun, Yuan, Tian, Li, Yan, Feng, Juan, Gong, Xiaoyuan, Li, Qinghua, Zhao, Xingli, Liu, Kaiqi, Tang, Kejing, Tian, Zheng, Zhang, Qi, Wang, Ying, Liu, Bingcheng, Wang, Min, Ru, Kun, Wang, Jianxiang, Mi, Yingchang
• Format: Journal Article
• Language: English
• Published: Greece D.A. Spandidos 01.04.2018; Spandidos Publications; Spandidos Publications UK Ltd
• Subjects: acute lymphoblastic leukemia; Acute lymphocytic leukemia; adult; Adults; Age; Analysis; Blood; Blood diseases; Care and treatment; Chemotherapy; Chromosomes; copy number alterations; Copy number variations; Cytokines; Deoxyribonucleic acid; Development and progression; DNA; Genes; Genetic aspects; Health aspects; Hematology; Investigations; Leukemia; Medical prognosis; multiplex ligation-dependent probe amplification; Oncology; Pediatrics; Prognosis; Transcription factors; United States > US; China; Germany; adult; acute lymphoblastic leukemia; prognosis; copy number alterations; multiplex ligation-dependent probe amplification
• ISSN: 1792-1074; 1792-1082; 1792-1082
• DOI: 10.3892/ol.2018.7985

The multiplex ligation-dependent probe amplification (MLPA) method was used to detect the copy number alterations (CNAs) of IKAROS family zinc finger 1 (IKZF1), paired box 5 (PAX5), ETS variant 6 (ETV6), RB transcriptional corepressor 1 (RB1), BTG anti-proliferation factor 1 (BTG1), early B-cell factor 1 (EBF1), cyclin dependent kinase inhibitor 2A/2B (CDKN2A/2B) and cytokine receptor like factor 2 (CRLF2) genes in 87 adults with acute lymphoblastic leukemia (ALL) in China. The effects of CNAs on prognosis were analyzed. Gene deletions were detected in 58/87 (66.7%) ALL patients. The most common deletions were observed in the following genes: IKZF1 (40.6%), CDKN2A (31.9%), CDKN2B (29%), PAX5 (21.7%), RB1 (14.5%) and BTG1 (10.1%). B cell-ALL (B-ALL) patients with CDKN2A/2B deletions exhibited poor 2-year overall survival (OS; P=0.055) and relapse-free survival (RFS; P=0.054) rates. CDKN2A/2B deletions were associated with poor 2-year OS (P=0.045) and RFS (P=0.071) rates in Philadelphia chromosome positive (Ph+) B-ALL patients, as well as in the high risk (HR) B-ALL group (P=0.037 and P=0.047, respectively). Patients with PAX5 deletions displayed poor 2-year OS (P=0.004) and RFS (P=0.016) rates in Philadelphia chromosome negative (Ph−) B-ALL patients. Patients with ≥3 gene deletions exhibited a poorer prognosis than other patients (OS, P=0.001; RFS, 0.002).