Postnatal management of asymptomatic congenital pulmonary malformations: moving towards evidence-based decisions

Delacourt, Christophe

doi:10.1136/archdischild-2017-313195

Cited by 5 publications

(5 citation statements)

References 6 publications

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“…El manejo de BPP tipo III no está estandarizado, pero por su mal pronóstico incluso hay casos en que se ha usado radioterapia pleural después de la resección, además de quimioterapia adyuvante 18 . El pronóstico en BPP recurrente o progresivo es aún peor, con sobrevida a 5 años de 37% 19 .…”

Section: Discussionunclassified

Blastoma Pleuropulmonar de presentación antenatal asociado a Síndrome DICER1: diagnóstico diferencial de Malformación Pulmonar Congénita

Catán Valenzuela,

Vargas Innocenti,

Hachim Gutierrez

et al. 2023

Andes pediatr

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El blastoma pleuropulmonar (BPP) es el tumor pulmonar primario maligno pediátrico más común. Se asocia a variantes patogénicas de línea germinal del gen DICER1. La presentación antenatal es infrecuente y determina un desafío en el diagnóstico diferencial de malformación pulmonar congénita (MPC).Objetivo: comunicar un caso de presentación inhabitual de BPP asociado a síndrome DICER1 y describir la dificultad en diferenciarlo de MPC.Caso Clínico: Paciente masculino con diagnóstico antenatal de lesión pulmonar izquierda hipervascularizada, con desplazamiento mediastínico y crecimiento progresivo, interpretada como MPC. Nació de 38 semanas y progresó con deterioro ventilatorio. La Tomografía Computada (TC) con contraste mostró una extensa masa quística multilocular con contenido aéreo con efecto de masa. Se realizólobectomía superior izquierda abierta. La histología fue compatible con BPP tipo I, con bordes negativos y estudio genético para DICER1 positivo. Siete semanas post-resección se pesquisóimagen aérea en la parte superior del tórax izquierdo, requiriendo nueva resección tumoral y segmentectomía superior, con biopsia correspondiente a recidiva de BPP tipo 1 con bordes negativos. Recibiótratamiento adyuvante con quimioterapia, con seguimiento por 2 años, manteniéndose asintomático, sin nuevas recidivas, screening negativo para otras neoplasias asociadas a DICER1. Entre los antecedentes familiares, destacaba cáncer papilar de tiroides de la madre, quien resultópositiva para la mutación.Conclusión: el BPP es un cáncer poco frecuente, siendo difícil distinguirlo de MPC, especialmente en su presentación antenatal. Conocer su asociación al Síndrome DICER1 y hacer estudio genético son claves para detectar precozmente el BPP y buscar otros tumores asociados al síndrome.

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Section: Discussionunclassified

Blastoma Pleuropulmonar de presentación antenatal asociado a Síndrome DICER1: diagnóstico diferencial de Malformación Pulmonar Congénita

Catán Valenzuela,

Vargas Innocenti,

Hachim Gutierrez

et al. 2023

Andes pediatr

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“…Although pleuropulmonary blastoma (PPB) may develop de novo postnatally, undoubtedly PPB may develop in a CTM, as may other malignancies, and the biggest population based study from Canada estimated the risk of PPB as 4% in ‘benign’ resected CTM;4 worryingly there were no radiological features to differentiate them. Unfortunately, and contrary to the editorial statement,2 complete resection of a CTM does not eliminate the risk of malignancy 5 6. Finally, rare but fatal cases of air embolism in adults with a CTM during commercial flight have been described 7 8.…”

mentioning

confidence: 88%

“…There is a clear need for more evidence as to how to deal with asymptomatic congenital thoracic malformations (CTMs), and thus the recent series from Great Ormond Street Hospital1 and the accompanying editorial2 are to be welcomed; however, the evidence review is incomplete. The risk of complications in non-operated CTMs after the postnatal period over around a decade was estimated at 3.2% in a meta-analysis 3.…”

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confidence: 99%

Evidence-based approach to congenital thoracic malformations

Bush

2017

Arch Dis Child

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There is a clear need for more evidence as to how to deal with asymptomatic congenital thoracic malformations (CTMs), and thus the recent series from Great Ormond Street Hospital1 and the accompanying editorial2 are to be welcomed; however, the evidence review is incomplete. The risk of complications in non-operated CTMs after the postnatal period over around a decade was estimated at 3.2% in a meta-analysis.3 Although pleuropulmonary blastoma (PPB) may develop de novo postnatally, undoubtedly PPB may develop in a CTM, as may other malignancies, and the biggest population based study from Canada estimated the risk of PPB as 4% in ‘benign’ resected CTM;4 worryingly there were no radiological features to differentiate them. Unfortunately, and contrary to the editorial statement,2 complete resection of a CTM does not eliminate the risk of malignancy.5 6 Finally, rare but fatal cases of air embolism in adults with a CTM during commercial flight have been described.7 8 Clearly the vast majority of CTMs remain asymptomatic for decades, posing a difficult decision for already anxious parents with a totally well infant. I suggest the above data should be shared with parents in an open discussion, so that informed choices can be made. Personally, I consider the risks of thoracoscopic surgery in competent hands should be far less than the risk of complications, and advocate elective removal of all but the most trivial CTMs, while respecting the views of parents and professionals who disagree. Certainly the follow-up protocol proposed by Cook et al for those non-resected CTMs should be tested prospectively in the sort of big international study which will be truly definitive

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“…3,6 The management of the post-natal symptomatic lesion is surgical intervention, but the approach to the asymptomatic cyst remains unsettled to date with the acknowledgement that symptoms can develop later in infancy or childhood. [7][8][9][10] The morphologic stages of lung development through gestation are well recognized, and insight into the coordination and regulation through various signaling pathways has provided a better understanding of possible mechanisms to explain CCPLs and other perturbations in lung morphogenesis. [11][12][13]…”

mentioning

confidence: 99%

mentioning

confidence: 99%

Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification

2023

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Congenital cystic pulmonary lesions (CCPLs) are represented by the following entities: congenital pulmonary airway malformation (CPAM), formerly congenital cystic adenomatoid malformation, extra- and intralobar sequestration (EIS), congenital lobar emphysema (overexpansion), and bronchogenic cyst. The developmental model of CPAM histogenesis by Stocker proposed perturbations designated as CPAM type 0 to type 4 without known or specific pathogenetic mechanisms along the airway from the bronchus to the alveolus. This review highlights mutational events either at the somatic level in KRAS (CPAM types 1 and possibly 3) or germline variants in congenital acinar dysplasia, formerly CPAM type 0, and pleuropulmonary blastoma (PPB), type I, formerly CPAM type 4. The potential for overt malignant progression exists in the case of PPB type I and CPAM type 1 in some cases to well-differentiated mucinous adenocarcinoma. On the other hand, CPAM type 2 is an acquired lesion resulting from interruption in lung development secondary to bronchial atresia. The latter is also regarded as the etiology of EIS whose pathologic features are similar, if not identical, to CPAM type 2. These observations have provided important insights into the pathogenetic mechanisms in the development of the CPAMs since the Stocker classification.

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Postnatal management of asymptomatic congenital pulmonary malformations: moving towards evidence-based decisions

Cited by 5 publications

References 6 publications

Blastoma Pleuropulmonar de presentación antenatal asociado a Síndrome DICER1: diagnóstico diferencial de Malformación Pulmonar Congénita

Blastoma Pleuropulmonar de presentación antenatal asociado a Síndrome DICER1: diagnóstico diferencial de Malformación Pulmonar Congénita

Evidence-based approach to congenital thoracic malformations

Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification

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