Abstract Introduction Pleuropulmonary blastoma, though rare overall, is the most common primary lung tumor in the pediatric population. This is a case of a 7-year-old male with a past medical history significant for a right sided congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, and pulmonary hypertension, who presented with an acute episode of upper respiratory symptoms and was found to have a pleuropulmonary blastoma. Description The patient presented during a routine pulmonary appointment with viral URI symptoms that began two days prior to presentation with denial of other respiratory symptoms. History was remarkable for prenatal diagnosis of CDH, intubated soon after birth, requiring venoarterial extracorporeal membrane oxygenation (VA ECMO). NICU course was complicated by various modes of invasive and non-invasive ventilation, patch repair at 6 days of life, pulmonary hypertension, and the development of anasarca/sepsis. Over the first 5 years of life, he had several hospitalizations for viral illnesses/pneumonia. For pulmonary hypertension, he remained on ambrisentan and tadalafil without any respiratory support at baseline. At the time of presentation, he had decreased breath sounds along the right middle and right lower lung fields compared to the left, differing from previous respiratory examinations that demonstrated clear breath sounds bilaterally. Chest x-ray showed new hyper-lucency of the left upper lobe with possible septations present. Chest CT demonstrated pleural-based multi-loculated cystic changes in the left upper lobe and a cystic structure in the right upper mediastinum without involvement of the lung parenchyma and without focal consolidation, mass, or air-leak syndrome (Figure 1). A new onset cystic lesion with pleural involvement in an otherwise stable child, raised suspicion for possible pleuropulmonary blastoma. Genetic testing identified a pathogenic DICER1 variant, which informed the surgical approach (thoracotomy vs thoracosopy). A left upper lobectomy was performed with pathology confirming the diagnosis of pleuropulmonary blastoma Type Ir. Discussion We present a rare and incidental case presentation of pleuropulmonary blastoma in a 7-year-old male with a history of right-sided CDH and pulmonary hypoplasia. Pleuropulmonary blastoma, although typically associated with DICER 1 mutation, is more commonly seen in association with congenital pulmonary airway malformations and is typically seen in patients who are 5 years old and younger. Suspicion for pleuropulmonary blastoma should be raised in the setting of new onset pleural and cystic lung masses on imaging in the absence of infection, this may help inform surgical approach. This abstract is funded by: None
Tan et al. (Fri,) studied this question.