儿童急性髓系白血病分子遗传学诊断准确性面临的挑战：病例系列
Challenges in accuracy in molecular genetic diagnosis of childhood AML: case series.
作者信息
de Oliveira Mota Fernanda, de Toledo Silva Regina Caminada, Tesser-Gamba Francine, Pires Michele Gaboardi de Carvalho, Gouveia Juliana Thomazini, Oliveira Indhira Dias, da Silva Santos Nancy, Delbuono Elizabete, Rhein Bruno Nicolaz, Guimarães Renata Fittipaldi da Costa, Zecchin Victor Gottardello, de Martino Lee Maria Lucia, de Sousa Ana Virginia Lopes
机构信息
Pediatric Oncology Institute, Grupo de Apoio ao Adolescente e à Criança com Câncer GRAACC, Federal University of São Paulo UNIFESP, Rua Botucatu 743, São Paulo, São Paulo, 04037020, Brazil.
National Science and Technology Institute for Children's Cancer Biology and Pediatric Oncology- INCT BioOncoPed, São Paulo, São Paulo, Brazil.
出版信息
Ann Hematol. 2025 Sep 17. doi: 10.1007/s00277-025-06437-4.
Survival rate of children with Acute Myeloid Leukemia (AML) improves gradually through cooperative studies. However, the outcome depends on heterogeneous mechanisms. Comprehending the genetic background of pediatric Acute Myeloid Leukemia (AML) is the key to risk stratification. Next Generation Sequencing (NGS) technology uses target panels that may detect additional genetic subsets. The study describes the experience of using NGS for treating pediatric AML patients at an institution. Patients who showed poor outcome aberration were referred to hematopoietic stem cell transplant (HSCT). 11 patients were tested. Aberrations were found in all subjects, mainly only in the NGS panel, indicating referral to HSCT in first remission in 2 cases and helping to outline the genetic features in all cases. The availability of NGS resources has had a therapeutic impact. NGS helped outline the patients' genetic features and decision for HSCT. NGS is a valuable tool in the precision medicine era and should be widely accessible.
通过合作研究，急性髓系白血病（AML）患儿的生存率逐渐提高。然而，治疗结果取决于多种不同的机制。了解儿童急性髓系白血病（AML）的遗传背景是进行风险分层的关键。下一代测序（NGS）技术使用的目标区域可能会检测到其他遗传亚群。本研究描述了在一家机构使用NGS治疗儿童AML患者的经验。预后较差的患者被转介接受造血干细胞移植（HSCT）。对11例患者进行了检测。在所有受试者中均发现了异常，主要仅在NGS检测区域，这表明2例患者在首次缓解期被转介接受HSCT，并有助于勾勒出所有病例的遗传特征。NGS资源的可用性产生了治疗影响。NGS有助于勾勒出患者的遗传特征并为HSCT做出决策。在精准医学时代，NGS是一种有价值的工具，应广泛应用。
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