Congenital Cystic Lung Lesions: Evolution From in-Utero to Pathology Diagnosis - A Multidisciplinary Approach

Abstract

Congenital cystic lung lesions (CCLL) are a group of rare pathologies that are usually diagnosed in the pre-natal period. The majority of these lesions are diagnosed at pathology examination as congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestration (BPS). These lesions are typically managed by surgical intervention within the first year of life and have an excellent prognosis. We examined the evolution of imaging appearances from prenatal diagnosis to postnatal work-up of these lesions and correlate imaging and pathological findings. An 8-year retrospective review of the perinatal and pathology database of a single tertiary care center identified 42 cases of CCLL of which 36 had known prenatal ultrasound and prenatal course available. Final pathologic diagnoses were: 15 CPAM (41%), 7 BPS (19%) and 9 hybrid BPS and CPAM lesions (25%). Five cases with bronchial atresia were also identified (either in isolation or associated with CPAM or BPS). The overall characteristics of these lesions by prenatal ultrasound, postnatal imaging, and ultimate histopathologic diagnosis are described.

Fetal Congenital Lung Lesions, DICER1 Syndrome, and Family History as a Risk Assessment Tool

“…It does not appear that there is a relevant correlation between prenatal sonographic appearance of these lesions and the final histopathology diagnosis, which is illustrated well in the report by Coleman et al [1,2] . PPB is a rare embryonic tumor which should be included in the differential diagnosis of any fetal congenital lung lesion diagnosed prenatally.…”

“…As a group, fetal congenital lung lesions represent heterogeneous clinical-pathological entities in which the final diagnosis relies on histopathology [2] . It does not appear that there is a relevant correlation between prenatal sonographic appearance of these lesions and the final histopathology diagnosis, which is illustrated well in the report by Coleman et al [1,2] .…”

Congenital bronchial atresia in adults: thoracoscopic resection

“…Bronchial atresia is a rare congenital malformation related to a defect in vascularization during the development of the bronchial bud, resulting in a cul-desac termination of one or more bronchi. The adjacent pulmonary parenchyma develops normally and secretes mucus, which accumulates and forms mucoid impactions and/or bronchocele (1,2). Collateral ventilated alveoli (Kohn's pores) provoke air retention and distension of the lung downstream of the atresia, which can cause recurrent infections and even mycobacterium infection (4) and, in the long term, destruction of the corresponding parenchyma.…”

“…Atresia is more common in segmental bronchi than in lobar ones. It can affect several territories (1,2). Although this abnormality is more often segmental than lobar (7), lobectomy is the most frequently reported resection since the remaining parenchyma is usually compressed by the abnormal segment, which is hyperinflated by trapping and by mucus accumulation (7,8).…”

“…It consists in a partial defect of a bronchus-usually at a segmental level-leading to the distension of the corresponding pulmonary parenchyma. They belong to the group of congenital pulmonary airway malformations (CPAM), which is different from the group of bronchopulmonary sequestrations (BPS) (1). Both malformations can be associated.…”