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Desafíos con Quistes Pulmonares Congénitos: ¿Cuándo Considerar la Prueba de DICER1? Una Revisión Narrativa

Gustavo Marcondes Rocha¹, Louis P Dehner², Damon R Olson³

¹Department of Neonatology. Centro Hospitalar Universitário de São João. Porto. Portugal.

Acta medica portuguesa

|February 20, 2026

Resumen

Las malformaciones congénitas de las vías respiratorias pulmonares (CPAM, por sus siglas en inglés) presentan desafíos diagnósticos, especialmente los tipos 1 y 4 asintomáticos. Estos tipos pueden tener potencial preneoplásico y están relacionados con variantes de DICER1, lo que afecta la atención pediátrica.

Área de la Ciencia:

Neumología Pediátrica
Cirugía Torácica
Oncología

Sus antecedentes:

Las malformaciones congénitas de las vías respiratorias pulmonares (CPAM) se clasifican en cinco tipos, siendo los tipos 1, 2 y 4 quísticos.
Las CPAM asintomáticas plantean dilemas terapéuticos, particularmente los tipos 1 y 4 debido a su potencial preneoplásico.

Objetivo del estudio:

Revisar la patogénesis y los desafíos diagnósticos del tipo 4 de CPAM y su asociación con el Blastoma Pleuropulmonar (PPB).
Explorar el vínculo entre las variantes de DICER1 y el PPB, ofreciendo información para los médicos que manejan a adultos jóvenes afectados.

Principales métodos:

Revisión narrativa de la literatura existente sobre CPAM, PPB y DICER1.
Análisis de criterios diagnósticos y vías patogénicas.

Principales resultados:

El tipo 4 de CPAM comparte características arquitectónicas con el PPB en etapa temprana.
El tipo 1 de CPAM tiene potencial de transformación maligna en adenocarcinoma.
El blastoma pleuropulmonar se asocia con variantes germinales o somáticas de DICER1.

Conclusiones:

Comprender el potencial preneoplásico de los tipos 1 y 4 de CPAM es crucial para el manejo del paciente.
La asociación entre el tipo 4 de CPAM, el PPB y las variantes de DICER1 resalta la importancia del cribado genético en los individuos afectados.

Palabras clave:

Niño Congénito Malformación Adenomatoide Quística de Pulmón Mutación Germinal Blastoma Pulmonar/genética Ribonucleasa III/genética

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