阿根廷儿科急性淋巴细胞白血病中复发性重排的 RT-PCR 诊断。
RT-PCR diagnosis of recurrent rearrangements in pediatric acute lymphoblastic leukemia in Argentina.
机构信息
Department of Hematology and Oncology, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
出版信息
Leuk Res. 2012 Jun;36(6):704-8. doi: 10.1016/j.leukres.2011.12.003. Epub 2012 Jan 5.
The present study was performed to establish the prevalence of the recurrent fusion transcripts in Argentinean pediatric patients with acute lymphoblastic leukemia (ALL). A total of 380 newly diagnosed children (including 50 infants and 44 T-ALL) were screened by RT-PCR; the incidence of recurrent rearrangements was: ETV6-RUNX1, 12.9%; TCF3-PBX1, 5.0%; BCR-ABL1, 1.6%; and MLL rearrangements, 10.5%. STIL-TAL1 was detected in 22.7% of T-ALL cases. In B-ALL cases, the pEFS was significantly influenced by the presence of genetic alterations. RT-PCR studies improved patients' stratification and also the overall outcome of children treated in a pediatric hospital from a developing country.
本研究旨在确定阿根廷儿科急性淋巴细胞白血病（ALL）患者中复发性融合转录本的流行情况。通过 RT-PCR 对 380 名新诊断的儿童（包括 50 名婴儿和 44 名 T-ALL）进行了筛查；复发性重排的发生率为：ETV6-RUNX1，12.9%；TCF3-PBX1，5.0%；BCR-ABL1，1.6%；MLL 重排，10.5%。STIL-TAL1 在 22.7%的 T-ALL 病例中被检测到。在 B-ALL 病例中，基因改变的存在显著影响了无事件生存（EFS）。RT-PCR 研究改善了患儿的分层，也改善了发展中国家儿科医院治疗患儿的整体预后。
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