青少年和年轻成人急性淋巴细胞白血病中CDKN2A基因缺失：一项比较基因组杂交阵列研究
CDKN2A deletions in acute lymphoblastic leukemia of adolescents and young adults: an array CGH study.
作者信息
Usvasalo Anu, Savola Suvi, Räty Riikka, Vettenranta Kim, Harila-Saari Arja, Koistinen Pirjo, Savolainen Eeva-Riitta, Elonen Erkki, Saarinen-Pihkala Ulla M, Knuutila Sakari
机构信息
Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland.
出版信息
Leuk Res. 2008 Aug;32(8):1228-35. doi: 10.1016/j.leukres.2008.01.014. Epub 2008 Mar 6.
Deletion in chromosome 9p involving the CDKN2A locus (9p21.3) is known in many malignancies. To detect this deletion in adolescent ALL patients we used oligo array CGH and studied 54 patients aged 10-25 years. Deletion rate was 25/54 (46%), of these 19/25 (76%) were homozygous. Small deletions (<200 kb) were found in 8/25 (32%) and the smallest deletion was <30 kb. The only gene affected in all deletions was CDKN2A. We were unable to demonstrate prognostic value of the deletion, however patients with deletion belonged more often (P=0.06) to unfavorable biological category. Our results indicate that CDKN2A deletions <200 kb may not be detected by conventional methods.
9号染色体短臂上涉及CDKN2A基因座（9p21.3）的缺失在许多恶性肿瘤中都有发现。为了检测青少年急性淋巴细胞白血病（ALL）患者中的这种缺失，我们使用了寡核苷酸阵列比较基因组杂交技术，并研究了54名年龄在10至25岁之间的患者。缺失率为25/54（46%），其中19/25（76%）为纯合缺失。在8/25（32%）的患者中发现了小缺失（<200 kb），最小的缺失小于30 kb。所有缺失中唯一受影响的基因是CDKN2A。我们无法证明这种缺失的预后价值，然而，有缺失的患者更常（P=0.06）属于不良生物学类别。我们的结果表明，传统方法可能无法检测到<200 kb的CDKN2A缺失。
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