Pleuropulmonary blastoma type I might arise in congenital pulmonary airway malformation type 4 by acquiring a Dicer 1 mu
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ORIGINAL ARTICLE
Pleuropulmonary blastoma type I might arise in congenital pulmonary airway malformation type 4 by acquiring a Dicer 1 mutation Luka Brcic 1 & Fabian Fakler 1 & Sylvia Eidenhammer 1 & Andrea Thueringer 1 & Karl Kashofer 1 & Janina Kulka 2 & Helmut Popper 1 Received: 4 December 2019 / Revised: 31 January 2020 / Accepted: 1 March 2020 # The Author(s) 2020
Abstract Congenital pulmonary airway malformation (CPAM) occurs most commonly in infants. It is divided into 5 types. The most common types 1 and 2 are cystic, type 0 presents as bronchial buds without alveolar tissue, most likely corresponding to alveolar dysgenesis, while type 3 is composed of branching bronchioles and appears as a solid lesion. A defect in the epithelialmesenchymal crosstalk might be the underlying mechanism for all. Type 4 is a peripheral cystic lesion with a thin cyst wall covered by pneumocytes. CPAM 4 has been mixed up with pleuropulmonary blastoma (PPB) type I and some authors question its existence. We investigated five cases of CPAM type 4 for the presence or absence of rhabdomyoblasts, and for markers associated with CPAM development. In addition, all cases were evaluated for mutations within the Dicer gene and for mutations of the RAS family of oncogenes. All five cases showed smooth muscle actin and desmin-positive cells; however, only one case showed a few cells positive for MyoD. The same case showed a mutation of Dicer 1. All cases were negative for mutations of the RAS family of genes. Fibroblast growth factor 10 was similarly expressed in all cases, and thus cannot be used to differentiate CPAM4 from PPB-I. Low expression of the proliferation marker Ki67 was seen in our CPAM 4 cases and the probable PPB-I case. YingYang-1 protein seems to play an active role in the development of PPB-I. CPAM 4 can be separated from PPB-I based on the presence of rhabdomyoblasts and mutations in Dicer 1 gene. These cells might not be numerous; therefore, all available tissue has to be evaluated. As CPAM 4 morphologically looks very similar to PPB-I, it might be speculated, that there exists a potential for progression from CPAM 4 to PPB-I, by acquiring somatic mutations in Dicer 1. Keywords Congenital pulmonary airway malformation . CPAM 4 . Dicer 1 mutation . Pleuropulmonary blastoma . RAS family oncogenes
Introduction Congenital pulmonary airway malformation (CPAM) is a rare disease of the lung. The incidence rate is between 1:11000 and 1:35000 in newborns [1, 2]. Due to the ongoing improvements in prenatal ultrasound technology, most of the cystic malformations are detected intrauterine [3, 4]. This might explain, why the incidence of CPAM continues to rise. CPAM, * Helmut Popper [email protected] 1
Diagnostic and Research Institute of Pathology, Medical University of Graz, Neue Stiftingtalstrasse 6, 8036 Graz, Austria
2
Second Department of Pathology, Semmelweis University Budapest, Budapest, Hungary
formerly known as congenital cystic adenomatoid malformation (CCAM), was described in 1949 as a distinct entity by
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