Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates
Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates
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DOI：
10.1182/blood-2010-05-282764
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发表时间：
2011-01-06
期刊：
影响因子：
20.3
通讯作者：
Schmiegelow, Kjeld
中科院分区：
文献类型：
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作者：
Lausten-Thomsen, Ulrik;Madsen, Hans Ole;Schmiegelow, Kjeld
t(12;21)(p13;q22)[ETV6-RUNX1] 是儿童急性淋巴细胞白血病中最常见的染色体易位，通常可以追溯到支持产前启动和出生时高水平循环 t(12;21) 阳性细胞的 Guthrie 卡。为了探索健康新生儿中 ETV6-RUNX1 阳性细胞的患病率，我们在出生后 24 小时内从 1417 份脐带血样本中分离出单核细胞，随后使用高灵敏度实时逆转录聚合酶链反应测定筛选 ETV6-RUNX1 转录本。首轮聚合酶链式反应中，14例样品呈10(-5)以下水平阳性，其中9例反映相关基因区域的特异性杂交呈阳性。使用储存的 mRNA 和流式细胞术分选来自同一脐带血样本的冷冻保存的单核细胞（平均分选：18 x 10(6) 个细胞）的 CD19(+)、CD8(+) 和 CD19(-)/CD8(-) 亚群进行重复分析，未发现阳性结果，这表明 ETV6-RUNX1 阳性细胞的水平和/或频率明显低于先前研究中建议的水平和/或频率。 （血。2011；117（1）：186-189）
t(12;21)(p13;q22)[ETV6-RUNX1] is the most common chromosomal translocation in childhood acute lymphoblastic leukemia, and it can often be backtracked to Guthrie cards supporting prenatal initiation and high levels of circulating t(12;21)-positive cells at birth. To explore the prevalence of ETV6-RUNX1-positive cells in healthy neonates, mononuclear cells from 1417 umbilical cord blood samples were isolated within 24 hours from birth and subsequently screened for ETV6-RUNX1 transcripts using a highly sensitive real-time reverse transcription polymerase chain reaction assay. In first-run polymerase chain reaction, 14 samples were positive at levels below 10(-5), of which specific hybridization reflecting the relevant genetic region was positive in 9 cases. Repeated analyses using stored mRNA and flowcytometric sorting of a CD19(+), CD8(+), and CD19(-)/CD8(-) subpopulations from cryopreserved mononuclear cells from the same cord blood samples (mean sorted: 18 x 10(6) cells) revealed no positive findings, which demonstrates that the level and/or frequency of ETV6-RUNX1-positive cells is markedly lower than suggested in previous studies. (Blood. 2011;117(1):186-189)