Challenges with Congenital Lung Cysts: When to Consider DICER1 Testing?  A Narrative Review

Gustavo Marcondes Rocha; Louis P. Dehner; Damon R. Olson; Kris Ann P. Schultz

doi:10.20344/amp.23967

Authors

Gustavo Marcondes Rocha Department of Neonatology. Centro Hospitalar Universitário de São João. Porto. https://orcid.org/0000-0003-3057-6054
Louis P. Dehner Division of Anatomic Pathology. Lauren V. Ackerman Laboratory of Surgical Pathology. Barnes-Jewish and St. Louis Children’s Hospitals. Washington University Medical Center. St. Louis. Missouri. & International Pleuropulmonary Blastoma/DICER1 Registry. Children’s Minnesota. Minneapolis. Minnesota. United States of America. https://orcid.org/0000-0002-2007-5638
Damon R. Olson Department of Pathology and Laboratory Medicine. Children’s Minnesota. Minneapolis. Minnesota. United States of America. https://orcid.org/0000-0001-9727-569X
Kris Ann P. Schultz International Pleuropulmonary Blastoma/DICER1 Registry. Children’s Minnesota. Minneapolis. Minnesota. & Cancer and Blood Disorders. Children’s Minnesota. Minneapolis. Minnesota. & International Ovarian and Testicular Stromal Tumor Registry. Children’s Minnesota. Minneapolis. Minnesota. United States of America. https://orcid.org/0000-0002-1788-5832

DOI:

https://doi.org/10.20344/amp.23967

Keywords:

Child, Cystic Adenomatoid Malformation of Lung, Congenital, Germ-Line Mutation, Pulmonary Blastoma/genetics, Ribonuclease III/genetics

Abstract

Congenital pulmonary airway malformations (CPAMs), according to the Stocker classification, comprise five types, two of which are non-cystic in nature (types 0 and 3) whereas the others present as cystic lung lesions (types 1, 2 and 4). While there is consensus that symptomatic lesions should be managed surgically, the asymptomatic cases are more problematic in terms of therapeutic intervention. The dilemma is further complicated by CPAM types 1 and 4 and their preneoplastic potential. In the case of CPAM type 1, there are reports of lipidic adenocarcinoma arising from the mucinous component. Type 4 has been equated to type I or cystic pleuropulmonary blastoma (PPB), a proposition that has been challenged in the past. Pleuropulmonary blastoma is associated with a heterozygous germline or somatic variants in DICER1. It was recognized that the earliest stage of the sarcomatous progression of PPB was a multicystic lesion in the periphery of the lung whose architectural features were identical to CPAM type 4. This narrative review addresses key aspects of the pathogenetic and diagnostic issues of type I PPB/CPAM type 4, as well as the association of DICER1 and PPB, offering valuable insights for pediatricians and clinicians caring for young adults who are impacted by the presence of a germline DICER1 variant.

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