No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation
Author / Expert
Jette J. Bakhuizen, Floor A.M. Postema, Rick R. van Rijn, Joost van Schuppen, Floor A.M. Duijkers, Carel J.M. van Noesel, Raoul C. Hennekam, Marjolijn C.J. Jongmans, C. Dilara Savci-Heijink, Stephanie E. Smetsers, Suzanne W.J. Terheggen-Lagro, Saskia M.J.
Topic overview
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.
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