Pleuropulmonary blastoma (PPB) is a rare pediatric lung malignancy that primarily involves the lungs and pleura. PPB can be easily misdiagnosed as congenital pulmonary airway malformation (CPAM) based on its cystic features. We report the case of an infant who presented to the emergency department with fever and respiratory distress. The patient tested positive for COVID-19, and imaging was initially suggestive of large CPAM in the right hemithorax causing compression of the right lung and midline shift to the left. Imaging also showed two hypodense lesions, one on the upper pole of the right kidney and the other on the right lobe of the thyroid. Prompt surgical removal of the lung lesion was indicated given the patient’s worsening respiratory status and increasing mediastinal shift. Following thoracoscopic resection, histopathologic testing indicated PPB type 1r with DICER1 pathogenic variants, rather than CPAM. DICER1 pathogenic variants are commonly associated with PPB and other neoplasms, including tumors of the kidney and thyroid. Despite its rarity, PPB should be considered in the differential diagnosis of unusual lung lesions found on chest X-ray in infants and children presenting to the emergency department. Surgical resection is the mainstay of treatment, and histopathology can confirm diagnosis and typing. Patients with PPB should be followed with Pediatric Hematology Oncology for recurrence with additional tumor surveillance in patients found to have a DICER1 pathogenic germline variant. Additionally, genetic testing may be beneficial for first-degree family members of a child with a pathogenic germline variant in DICER1, particularly other children. If a variant is identified, appropriate surveillance strategies can be implemented to manage their associated tumor risk. The patient and family moved locations before germline testing was done. Effective communication between care teams was essential to ensure continuity, with clear plans established for ongoing surveillance and any additional testing needed for both the child and family.
Bekker et al. (Sun,) studied this question.