2024 Volume 60 Issue 1 Pages 50-56
A 1-year-and-3-month-old boy was referred to our department for a detailed examination after an abdominal mass was pointed out when he visited a nearby hospital for the common cold. An ultrasound scan revealed a multilocular cystic mass in the left kidney. Right pneumothorax was suspected on the basis of plain chest X-ray images. A thoracoabdominal Magnetic Resonance Imaging (MRI) revealed a pulmonary cystic tumor and bilateral cystic kidney tumors. The plan was to perform resection for each of the tumors, and right upper lobectomy was performed first. Histopathological examination revealed that pleuropulmonary blastoma (PPB) of type I was most likely a regressed lesion. Two months later, a left nephrectomy and enucleation of the right renal mass were performed, and histopathological examination revealed cystic nephroma. Considering the possibility of DICER1 syndrome, genetic analysis was performed, and on the basis of the results, a diagnosis of DICER1 syndrome was made. When tumors in multiple organs are found, the possibility of DICER1 syndrome should also be considered.
