Challenges in accuracy in molecular genetic diagnosis of childhood AML: case series.

IF 2.4 3区医学 Q2 HEMATOLOGY

Annals of Hematology Pub Date : 2025-09-17 DOI:10.1007/s00277-025-06437-4

Fernanda de Oliveira Mota, Silva Regina Caminada de Toledo, Francine Tesser-Gamba, Michele Gaboardi de Carvalho Pires, Juliana Thomazini Gouveia, Indhira Dias Oliveira, Nancy da Silva Santos, Elizabete Delbuono, Bruno Nicolaz Rhein, Renata Fittipaldi da Costa Guimarães, Victor Gottardello Zecchin, Maria Lucia de Martino Lee, Ana Virginia Lopes de Sousa

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Abstract

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.

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儿童AML分子遗传学诊断准确性的挑战：病例系列。

急性髓性白血病（AML）患儿生存率通过合作研究逐步提高。然而，结果取决于异质机制。了解小儿急性髓系白血病（AML）的遗传背景是进行风险分层的关键。下一代测序（NGS）技术使用目标面板，可以检测到额外的遗传亚群。该研究描述了在一家机构使用NGS治疗儿科AML患者的经验。出现不良预后异常的患者进行造血干细胞移植（HSCT）。11名患者接受了检测。在所有受试者中都发现了异常，主要是在NGS组中，这表明有2例患者在首次缓解时转诊到HSCT，并有助于概述所有病例的遗传特征。NGS资源的可用性对治疗产生了影响。NGS有助于概述患者的遗传特征并决定是否进行HSCT。NGS是精准医疗时代的宝贵工具，应该广泛使用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Hematology 医学-血液学

CiteScore

5.60

自引率

2.90%

发文量

304

审稿时长

2 months

期刊介绍： Annals of Hematology covers the whole spectrum of clinical and experimental hematology, hemostaseology, blood transfusion, and related aspects of medical oncology, including diagnosis and treatment of leukemias, lymphatic neoplasias and solid tumors, and transplantation of hematopoietic stem cells. Coverage includes general aspects of oncology, molecular biology and immunology as pertinent to problems of human blood disease. The journal is associated with the German Society for Hematology and Medical Oncology, and the Austrian Society for Hematology and Oncology.