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Pleuropulmonary Blastoma: More Than a Lung Neoplasm of Childhood
Louis P Dehner1, Kris Ann Schultz2, D Ashley Hill3
1Louis P. Dehner, MD, MSMA member since 1990 and Missouri Medicine Editorial Board member for Pathology, is Professor of Pathology at Washington University School of Medicine, St. Louis, Missouri.
Insights
Pleuropulmonary blastoma (PPB) is a childhood lung cancer that can progress from cystic lesions to sarcoma. A DICER1 gene mutation is found in most PPB cases and related tumors.
Area of Science:
- Pediatric Oncology
- Cancer Genetics
- Molecular Pathology
Background:
- Pleuropulmonary blastoma (PPB) is the most common primary malignant lung neoplasm in children aged 0-6 years.
- PPB originates as a cystic lung lesion and can evolve into a high-grade sarcoma over 3-5 years.
- Familial clustering of PPB and other neoplasms suggested a genetic basis.
Purpose of the Study:
- To investigate the genetic underpinnings of pleuropulmonary blastoma.
- To identify the specific genetic mutations associated with PPB and related tumors.
- To understand the progression and familial predisposition of PPB.
Main Methods:
- Genetic analysis of patients with PPB and their families.
- Identification of germline mutations in relevant genes.
- Clinical and pathological review of tumor samples.
Main Results:
- A heterozygous germline mutation in DICER1 was identified as a key genetic factor in PPB.
- Approximately 75%-80% of children with PPB harbor the DICER1 germline mutation.
- DICER1 mutations are also associated with extrapulmonary neoplasms like cystic nephroma and ovarian Sertoli-Leydig cell tumors.
Conclusions:
- DICER1 mutations play a significant role in the development of pleuropulmonary blastoma.
- The findings highlight a genetic link between PPB and a spectrum of other neoplasms.
- Understanding the DICER1 mutation's role can inform diagnosis, risk assessment, and potential therapeutic strategies for affected children and families.
Abstract:
Pleuropulmonary blastoma (PPB), the most common primary malignant neoplasm of the lung in childhood, occurs in the same early age group (0-6 years) as the other more common solid tumors such as neuroblastoma and Wilms tumor. The tumor begins as a cystic lung lesion with the potential over a period of 3-5 years to progress to a high grade multipatterned primitive sarcoma in the absence of a malignant epithelial component. Several years after its initial description as a unique clinicopathologic entity, this and other tumors appeared to have a familial predilection which was later confirmed with the discovery of a heterozygous germline mutation in DICER1 whose protein is a member of ribonuclease III family of enzymes. It is estimated that 75%-80% of children with a PPB have the germline mutation. The other notable finding from our studies is the identification of a family of extrapulmonary neoplasms, including cystic nephroma and Sertoli-Leydig cell tumor of the ovary as two examples, also with DICER1 mutations.
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