Type III pleuropulmonary blastoma: A case report

Pleuropulmonary blastoma (PPB) is an uncommon malignant neoplasm occurring in infants. The disease is intimately linked to mutations in the Dcr-1 homolog and ribonuclease type III (DICER1) genes. Imaging techniques are crucial for diagnosing PPB, yet distinguishing PPB from other pulmonary masses proves challenging. Early detection of PPB is problematic, and it is often diagnosed at an advanced pathological stage with a poor prognosis. The present report discusses a PPB case and evaluates its clinical manifestations, imaging characteristics, pathological features and molecular genetic changes. The patient was a 3-year-old female who presented to Affiliated Hospital of Zunyi Medical University (Zunyi, China) with an unexplained cough. Chest computed tomography revealed a mass in the right thoracic cavity, which was identified as a neoplastic lesion and considered a potential PPB. Surgical intervention was performed. The postoperative pathological examination confirmed PPB (type III) with rhabdomyomatous and chondroid differentiation. After surgery, the patient was treated with regular chemotherapy and at follow-up was doing well without recurrence. In conclusion, PPB represents a rare pathological diagnosis. The present report highlights the significance of noting clinical symptoms in infants, promptly performing pulmonary imaging and pathological examinations, and performing genetic testing when required. Furthermore, long-term surveillance of families with DICER1 syndrome is vital for infants diagnosed with PPB.