2026-04-13T02:09:31Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/133412025-09-30T02:08:06Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Hidalgo Gómez, Gloria author Palacio-Garcia, Carles author Martínez-Morgado, Noemi author Ortega Blanco, Margarita author Tazon-Vega, Barbara author Saumell, Silvia author Murillo-Sanjuán, Laura author VELASCO, PABLO author Murciano, Thais author Diaz de Heredia, Cristina author Bosch, Francesc author Navarro Garces, Victor author 2025-07-03T07:55:44Z 2025-07-03T07:55:44Z 2025-04 Acute lymphoblastic leukemia; Genetic diagnosis; Multiple-technique approach Leucèmia limfoblàstica aguda; Diagnòstic genètic; Enfocament multitècnic Leucemia linfoblástica aguda; Diagnóstico genético; Enfocament multitécnico This study investigated the importance of comprehensive genetic diagnosis in pediatric B-cell acute lymphoblastic leukemia (B-ALL). We analyzed 175 B-ALL employing karyotyping, FISH, MLPA, targeted next-generation sequencing (t-NGS), and Optical Genome Mapping (OGM). This approach achieved an 83% classification rate, identifying 17 distinct genetic subtypes. Specifically, within B-other subtype, seven different subgroups were identified (ZNF384, IGH, DUX4, NUTM1 rearrangements, PAX5 alterations, PAX5 P80R, and IKZF1 N159Y). Secondary genetic alterations were observed, with copy number alterations (CNA) present in 60% of cases and mutations detected in 70.6%. While these alterations exhibited specific associations with certain genetic subtypes, CNAs did not appear to significantly impact the prognosis within these genetic groups. HeH, ETV6::RUNX1, ZNF384-r, and PAX5 P80R exhibited excellent outcomes, contrasting with the poor prognoses observed in KMT2A-r, hypodiploidy, and CRLF2-r (5-year overall OS were 50%, 50%, and 52%, respectively). These findings underscore the value of integrated genetic diagnostics for accurate subtyping, risk stratification, and guiding personalized treatment in pediatric B-ALL. Therefore, optimizing diagnostic workflows for routine clinical practice is crucial. Our study confirms the utility of conventional techniques (karyotyping and FISH), combined with t-NGS and OGM, for comprehensive genetic diagnosis. This work was supported by the FERO Foundation under Grant 3281. Cromosomes humans - Anomalies - Diagnòstic Leucèmia limfoblàstica - Diagnòstic Leucèmia limfoblàstica - Aspectes genètics Infants DISEASES::Hemic and Lymphatic Diseases::Lymphatic Diseases::Lymphoproliferative Disorders::Leukemia, Lymphoid::Precursor Cell Lymphoblastic Leukemia-Lymphoma::Precursor B-Cell Lymphoblastic Leukemia-Lymphoma Other subheadings::Other subheadings::/diagnosis ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing NAMED GROUPS::Persons::Age Groups::Child ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades linfáticas::trastornos linfoproliferativos::leucemia linfoide::leucemia-linfoma linfoblástico de células precursoras::leucemia-linfoma linfoblástico de células B precursoras Otros calificadores::Otros calificadores::/diagnóstico TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::niño How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia