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Trayectorias evolutivas de los síndromes mielodisplásicos/neoplasias
Maria Creignou1, Martina Sarchi2, Elsa Bernard3
1Université Paris-Saclay, Gustave Roussy, Inserm U981, IHU PRISM National PRecISion Medicine Center in Oncology, F-94805, Villejuif, France; Department of Medicine Huddinge, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Cancer Studies, Karolinska University Hospital, Stockholm, Sweden.
Seminars in cancer biology
|February 6, 2026
Resumen
Los síndromes mielodisplásicos (SMD) son cánceres mieloides con baja supervivencia. Las nuevas perspectivas genómicas revelan vías de evolución de la enfermedad, guiando tratamientos personalizados para SMD y leucemia mieloide aguda (LMA).
Área de la Ciencia:
- Hematología
- Oncología
- Genética
Sus antecedentes:
- Los síndromes mielodisplásicos (SMD) son neoplasias mieloides clonales con mal pronóstico y opciones de tratamiento limitadas.
- A pesar de los avances como los agentes hipometilantes, SMD sigue siendo un desafío debido a la resistencia y la progresión a leucemia mieloide aguda (LMA).
- Comprender la patogénesis de SMD es crucial para mejorar los resultados de los pacientes.
Objetivo del estudio:
- Revisar el panorama genético y la evolución clonal de SMD.
- Explorar los factores que influyen en la progresión de SMD, incluida la predisposición de la línea germinal y las influencias del microambiente.
- Discutir el cambio hacia una taxonomía molecular para el tratamiento personalizado de SMD.
Principales métodos:
- Síntesis del conocimiento actual sobre la genética y patogénesis de SMD.
- Análisis del impacto de las tecnologías genómicas y de célula única en la comprensión de SMD.
- Revisión de los factores que afectan la expansión clonal y la transformación a LMA.
Principales resultados:
- La iniciación y progresión de la enfermedad en SMD siguen rutas evolutivas definidas impulsadas por mutaciones somáticas.
- Los factores de la línea germinal, el microambiente de la médula ósea y los factores estresantes ambientales modulan la evolución clonal.
- Las perspectivas genómicas están redefiniendo la clasificación de SMD/LMA y permitiendo terapias personalizadas.
Conclusiones:
- Los avances en genómica han mejorado significativamente la comprensión de la patogénesis y evolución de SMD.
- Un enfoque impulsado por la molecularidad está transformando las estrategias de diagnóstico, pronóstico y tratamiento de SMD.
- Están surgiendo marcos de medicina personalizada para neoplasias mieloides basados en sus perfiles moleculares únicos.
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