A case of pleuropulmonary blastoma with DICER1 mutation that required differential diagnosis from diaphragmatic hernia and congenital pulmonary airway malformation (CPAM)

Abstract

A previously healthy 1-year-old boy presented with persistent fever, cough, and tachypnea at a local hospital. Chest X-ray suggested diaphragmatic hernia; thus, he was referred to our hospital. Laboratory examinations and imaging studies indicated congenital pulmonary airway malformation accompanied by pulmonary infection. Although the patient’s symptoms improved after antibiotic administration, they later recurred. A partial lung excision was performed, and a histopathological examination revealed pleuropulmonary blastoma. Homozygous mutations in DICER1 were detected in the tumor cells, but not in the germline. He received the ifosfamide, vincristine, dactinomycin, and doxorubicin (IVADo) regimen after surgery, after which he remained in remission for over 9 months. Pleuropulmonary blastoma is a rare malignant tumor with poor prognosis, and some patients have germline DICER1 mutations associated with various malignancies. Pleuropulmonary blastoma should be considered as a cystic lung disease. Moreover, long-term follow-up is required to detect relapse and distant metastasis.