Varszegi Dalma, Duga Balazs, Melegh Bela I, Sumegi Katalin, Kisfali Peter, Maasz Anita, Melegh Bela
Department of Dermatology, Venereology and Oncodermatology, University of Pecs, Pecs, Hungary.
Pathol Oncol Res. 2014 Jul;20(3):529-33. doi: 10.1007/s12253-013-9724-z. Epub 2013 Dec 5.
Patients treated successfully for pediatric Hodgkin's lymphoma are known to develop secondary malignancies; care is already taken in treatment to prevent this adverse effect. Recent GWAS study identified rs4946728 and rs1040411 noncoding SNPs located between PRDM1 and ATG1 genes on chromosome 6q21 as risk factors for secondary malignancies in patients formerly treated with radiotherapy for pediatric Hodgkin disease. We investigated the allele frequencies of these two SNPs in biobanked, randomly selected DNA of average, apparently healthy Hungarians (n = 277) and in samples of Roma (n = 279) population living Hungary. The risk allele frequency for rs4946728 was 79.4 % in Hungarian and 83.5 % in Roma samples, while for rs1040411 it was 56.4 % in Hungarian and 55.8 % in Roma samples. These values are quite similar in the two populations, and are rather high. The values are higher than those frequencies observed in the controls (rs4946728: 59.1 % and rs1040411: 39.6 %, p < 0.05), and are in the range of the cases (86 % and 68.2 %, respectively) of the above original GWAS study. Our findings suggest, that beside the already taken precautions, genetic characterization of Hungarian pediatric Hodgkin patients seems to be advantageous prior to the treatment of their disease.
已知成功治疗的儿童霍奇金淋巴瘤患者会发生继发性恶性肿瘤;在治疗过程中已采取措施预防这种不良反应。最近的全基因组关联研究(GWAS)确定,位于6号染色体6q21上PRDM1和ATG1基因之间的rs4946728和rs1040411非编码单核苷酸多态性(SNP)是曾接受放疗的儿童霍奇金病患者发生继发性恶性肿瘤的风险因素。我们调查了这两个SNP在匈牙利平均健康状况良好的随机选择的生物样本库DNA(n = 277)以及生活在匈牙利的罗姆人样本(n = 279)中的等位基因频率。rs4946728的风险等位基因频率在匈牙利样本中为79.4%,在罗姆人样本中为83.5%;而rs1040411在匈牙利样本中为56.4%,在罗姆人样本中为55.8%。这两个群体中的这些值非常相似,且相当高。这些值高于在对照组中观察到的频率(rs4946728:59.1%,rs1040411:39.6%,p < 0.05),并且处于上述原始GWAS研究病例的范围内(分别为86%和68.2%)。我们的研究结果表明,除了已经采取的预防措施外,对匈牙利儿童霍奇金病患者在疾病治疗前进行基因特征分析似乎是有益的。