A female case of pleuropulmonary blastoma type 1 whose pulmonary cystic lesion was followed since neonate

• Main Authors: Michinobu Ohno, Toshiko Takezoe, Toshihiko Watanabe, Kazunori Tahara, Tomoro Hishiki, Akihiro Fujino, Motomi Matsuo, Masataka Higuchi, Kazuteru Kawasaki, Yoko Shioda, Motohiro Kato, Chikako Kiyotani, Kimikazu Matsumoto, Emi Takakuwa, Rie Irie, Takako Yoshioka, Shunsuke Kimura, Masafumi Seki, Junko Takita, Yutaka Kanamori
• Format: Article
• Language: English
• Published: Elsevier 2017-04-01
• Series: Journal of Pediatric Surgery Case Reports
• Subjects: Pleuropulmonary blastoma type 1; Cystic lung disease; CPAM; DICER1
• Online Access: http://www.sciencedirect.com/science/article/pii/S2213576617300234
• ISSN: 2213-5766

Pleuropulmonary blastoma (PPB) is a rare malignant mesenchymal tumor. It is classified into 3 subgroups, and PPB type 1 is known to be a cystic lesion with good prognosis. Here, we report a case of PPB type 1 seen in a 1-year-old girl whose pulmonary cystic lesion had been followed-up as a congenital pulmonary airway malformation since neonate. The cyst had been diagnosed as congenital pulmonary airway malformation before surgery but the final diagnosis was type 1 PPB. The tumor had a somatic mutation in exon 25 of the DICER 1 gene whereas no germline mutation was found.