A case report of pleuropulmonary blastoma: a challenging diagnostic and therapeutic path in pediatrics

Abstract

3-year-old female with a history of bullectomy at the age of 1-year-old, presented a course of progressive respiratory difficulty, dry cough and fever. Extension studies showed a solid tumor that covered almost the entire right hemithorax, displacing the mediastinum. An upper right lobectomy and lumpectomy were performed but a residual mass remained after surgery. Pleuropulmonary blastoma (PPB) type II-III with DICER 1 germinal mutation was diagnosed. She received the IVADo regimen, reducing the tumor size; however, the remaining residual tumor was inoperable. Consequently, she proceeded with a maintenance phase using the Vinorelbine/Cyclophosphamide regimen, being both regimens part of the non-standardized RMS-2005 protocol. A biopsy of the residual mass reported non evidence of cancer. After a 2-year follow-up, she remains cancer-free. This is a very rare disease lacking a standardized treatment protocol until now. It is associated with a genetic basis in 40% of it cases, linked to DICER1 mutation, and typically manifests within the first five years of life. The multidisciplinary management is key in this disease that can improve improves survival.