No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.

Autor: Bakhuizen JJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Postema FAM; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., van Rijn RR; Department of Radiology and Nuclear Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., van Schuppen J; Department of Radiology and Nuclear Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Duijkers FAM; Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., van Noesel CJM; Department of Pathology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Savci-Heijink CD; Department of Pathology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Smetsers SE; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Terheggen-Lagro SWJ; Department of Pediatric Pulmonology and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Oomen MWN; Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Merks JHM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Division of Imaging and Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address: J.H.M.Merks@prinsesmaximacentrum.nl.
Jazyk: angličtina
Zdroj: Journal of pediatric surgery [J Pediatr Surg] 2024 Mar; Vol. 59 (3), pp. 459-463. Date of Electronic Publication: 2023 Oct 21.
DOI: 10.1016/j.jpedsurg.2023.10.031
Abstrakt: Background: Distinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have been misdiagnosed and we may have missed DICER1-associated PPBs, a diagnosis with important clinical implications for patients and their families. To gain insight in potential misdiagnoses, we systematically assessed somatic DICER1 gene mutation status in an unselected, retrospective cohort of patients with a CPAM diagnosis.
Methods: In the Amsterdam University Medical Center (the Netherlands), it has been standard policy to resect CPAM lesions. We included all consecutive cases of children (age 0-18 years) with a diagnosis of CPAM between 2007 and 2017 at this center. Clinical and radiographic features were reviewed, and DICER1 gene sequencing was performed on DNA retrieved from CPAM tissue samples.
Results: Twenty-eight patients with a surgically removed CPAM were included. CPAM type 1 and type 2 were the most common subtypes (n = 12 and n = 13). For 21 patients a chest CT scan was available for reassessment by two pediatric radiologists. In 9 patients (9/21, 43%) the CPAM subtype scored by the radiologists did not correspond with the subtype given at pathology assessment. No pathogenic mutations and no copy number variations of the DICER1 gene were found in the DNA extracted from CPAM tissue (0/28).
Conclusions: Our findings suggest that the initial CPAM diagnoses were correct. These findings should be validated through larger studies to draw conclusions regarding whether systematic DICER1 genetic testing is required in children with a pathological confirmed diagnosis of CPAM or not.
Level of Evidence: Level IV.
Competing Interests: Conflicts of interest None.
(Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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