Annals of hematology · 2025
Challenges in accuracy in molecular genetic diagnosis of childhood AML: case series.
СтатьяКлинический случайНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.