NCI Definition: A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. [1]

Pleuropulmonary blastomas most frequently harbor alterations in DICER1, TP53, RECQL4, OGG1, and MUS81 [2].

Most Commonly Altered Genes in Pleuropulmonary Blastoma

DICER1fs, DICER1 Mutation, TP53 c.217-c.1178 Missense, TP53 R273C, and TP53 Mutation are the most common alterations in pleuropulmonary blastoma [2].

Top Alterations in Pleuropulmonary Blastoma

Disease Details

Pulmonary Blastoma of Childhood
Pulmonary Blastoma
OncoTree Name
Pleuropulmonary Blastoma
OncoTree Code


1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.