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La diversidad de isoformas de transcripción define los subtipos moleculares y el pronóstico en la leucemia mieloide
Xiaoguang Shi1, Shuai Wang2, Shuting Yu2
1Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 197 Ruijin Er Road, Shanghai 200025, China; School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai 200240, China.
Cell reports
|September 4, 2025
Resumen
La secuenciación de larga lectura revela nuevas isoformas de transcripción en la leucemia mieloide aguda (LMA), descubriendo extensas anomalías de empalme. Estos hallazgos definen nuevos subtipos de LMA relacionados con el pronóstico del paciente, allanando el camino para la medicina de precisión.
Área de la Ciencia:
- La genómica
- Las transcripciones
- Biología del cáncer
Sus antecedentes:
- La leucemia mieloide aguda (LMA) es un cáncer de sangre complejo con una heterogeneidad clínica significativa.
- Comprender las bases moleculares de la LMA es crucial para desarrollar tratamientos efectivos.
Objetivo del estudio:
- Para analizar exhaustivamente las anomalías de empalme en la LMA utilizando secuenciación de transcriptoma de larga lectura.
- Identificar nuevas isoformas de transcripción y su potencial como biomarcadores para la clasificación y el pronóstico de la LMA.
Principales métodos:
- Secuenciación de transcriptoma de larga lectura (Oxford Nanopore Technologies) en 60 muestras primarias de médula ósea de LMA.
- Identificación y validación de las isoformas de transcripción no anotadas mediante cromatografía líquida y espectrometría de masas en tándem.
- Agrupación por factorización de matriz no negativa de datos de secuenciación de ARN para definir subtipos moleculares.
Principales resultados:
- Detección de anomalías de empalme extensas específicas de la LMA.
- Identificación de 119,278 isoformas de transcripción no anotadas anteriormente, con 80,294 que contienen marcos de lectura abiertos completos.
- El descubrimiento de subtipos de LMA definidos por la isoforma se correlacionó fuertemente con el pronóstico del paciente.
Conclusiones:
- El empalme alternativo contribuye significativamente a la heterogeneidad molecular de la LMA.
- Las nuevas isoformas de transcripción y los patrones de empalme pueden servir como biomarcadores potenciales para la clasificación de la LMA.
- Los hallazgos apoyan el avance de la medicina de precisión y el desarrollo de terapias dirigidas para la LMA basadas en anomalías de empalme.
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