Sánchez-Escobar Norberto, Romero-Tlalolini María de Los Ángeles, Rosas-Vargas Haydeé, Jiménez-Hernández Elva, Núñez Enríquez Juan Carlos, Rangel-López Angélica, Sánchez López José Manuel, Rojo-Serrato Daniela, Jasso Mata América Mariana, Márquez Aguilar Efraín Abimael, Flores-Lujano Janet, Bravata-Alcántara Juan Carlos, Martín-Trejo Jorge Alfonso, Jiménez-Morales Silvia, Arellano-Galindo José, Sanson Aurora Medina, Gonzalez Jose Gabriel Peñaloza, Mejía-Aranguré Juan Manuel, Mata-Rocha Minerva
SECIHTI-Facultad de Medicina y Cirugía-Universidad Autónoma "Benito Juárez" de Oaxaca, Mexico City 68020, Mexico.
Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría "Dr. Silvestre Frenk Freund", Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City 06720, Mexico.
Int J Mol Sci. 2025 Jul 21;26(14):7003. doi: 10.3390/ijms26147003.
B-lineage acute lymphoblastic leukemia (B-ALL) is classified into more than 20 molecular subtypes, and next-generation sequencing has facilitated the identification of these with high sensitivity. Bulk RNA-seq analysis of bone marrow was realized to identify molecular subtypes in Mexican pediatric patients with B-ALL. High hyperdiploidy (27.3%) was the most frequent molecular subtype, followed by (13.6%), (9.1%), (9.1%), (9.1%), (9.1%), (4.5%), Ph (4.5%), (4.5%), and (4.5%), with one patient presenting both the and low hypodiploidy subtypes (4.5%). The genes , and harbor deleterious missense variants across different B-ALL molecular subtypes. The subtype exhibited mutations in , , , , , and with overexpression of the gene. The subtype showed mutually exclusive missense variants in the gene. Here, we have demonstrated the importance of using RNA-seq to facilitate the differential diagnosis of B-ALL with successful detection of gene fusions and mutations. This will aid both patient risk stratification and precision medicine.
B系急性淋巴细胞白血病(B-ALL)可分为20多种分子亚型,新一代测序技术有助于高灵敏度地识别这些亚型。通过对骨髓进行批量RNA测序分析,以识别墨西哥儿科B-ALL患者的分子亚型。高超二倍体(27.3%)是最常见的分子亚型,其次是(13.6%)、(9.1%)、(9.1%)、(9.1%)、(9.1%)、(4.5%)、Ph(4.5%)、(4.5%)和(4.5%),有一名患者同时呈现和低亚二倍体亚型(4.5%)。在不同的B-ALL分子亚型中,基因、和存在有害的错义变异。亚型在、、、、和中表现出突变,且基因过表达。亚型在基因中显示出相互排斥的错义变异。在此,我们证明了使用RNA测序促进B-ALL鉴别诊断的重要性,成功检测到了基因融合和突变。这将有助于患者风险分层和精准医疗。