Desafios com Cistos Pulmonares Congénitos: Quando Considerar o Teste DICER1? Uma Revisão Narrativa
DOI:
https://doi.org/10.20344/amp.23967Palavras-chave:
Blastoma Pulmonar/genética, Criança, Malformação Adenomatoide Quística Congénita do Pulmão, Mutação em Linhagem Germinativa, Ribonuclease III/genéticaResumo
As malformações congénitas das vias aéreas pulmonares (MCVAP), segundo a classificação de Stocker, são representadas por cinco tipos, dos quais dois são de natureza não cística (tipos 0 e 3), enquanto os restantes apresentam-se como lesões pulmonares císticas (tipos 1, 2 e 4). Embora exista consenso quanto à abordagem cirúrgica das lesões sintomáticas, os casos assintomáticos colocam maiores dificuldades no que diz respeito à intervenção terapêutica. O dilema torna-se ainda mais complexo com as MCVAP tipos 1 e 4, devido ao seu potencial preneoplásico. No caso da MCVAP tipo 1, há relatos de adenocarcinoma lipídico originado a partir do componente mucinoso. A MCVAP tipo 4 foi equiparada ao blastoma pleuropulmonar (BPP) quístico ou tipo I, uma hipótese que já foi contestada no passado. O BPP está associado a variantes heterozigóticas germinativas ou somáticas no gene DICER1. Foi reconhecido que o estadio mais precoce da progressão sarcomatosa do BPP corresponde a uma lesão multicística localizada na periferia do pulmão, cujas características arquitectónicas são idênticas às da MCVAP tipo 4. Esta revisão narrativa aborda aspetos-chave das questões patogenéticas e de diagnóstico do BPP tipo I/MCVAP tipo 4, bem como a associação entre DICER1 e BPP, oferecendo informações valiosas para especialistas em pediatria e clínicos que acompanham jovens adultos afetados pela presença de variantes germinativas no gene DICER1.
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