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Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome
Louis P Dehner1,2, Yoav H Messinger1, Kris Ann P Schultz1
11 International Pleuropulmonary Blastoma Registry, Children's Hospital and Clinics of Minnesota, Minneapolis, MN 55404, USA.
Insights
Pleuropulmonary blastoma (PPB) is a common childhood lung cancer often starting as a lung cyst. Over 65% of cases involve a DICER1 gene mutation, linking it to familial tumor predisposition syndrome.
Area of Science:
- Pediatric Oncology
- Genetics
- Developmental Biology
Background:
- Pleuropulmonary blastoma (PPB) is the most frequent primary malignant lung tumor in children.
- PPB often originates from lung cysts, posing diagnostic challenges due to similarities with non-neoplastic childhood cysts.
Observation:
- The tumor can progress from a multilocular cyst to a high-grade sarcoma.
- Over 65% of children with PPB have a DICER1 germline mutation.
Findings:
- The DICER1 gene mutation is associated with PPB and a familial tumor predisposition syndrome.
- This syndrome includes characteristic extrapulmonary tumors like cystic nephroma and rhabdomyosarcoma.
Implications:
- Understanding the DICER1 mutation's role is crucial for diagnosing and managing PPB and related tumors.
- Early identification of lung cysts and genetic screening can aid in managing this rare pediatric cancer.
Abstract:
Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children. Like other solid dysontogenic neoplasms, this tumor typically presents before 7 years of age. The earliest manifestation is the presence of a lung cyst(s), which is usually recognized in the first year of life and is difficult to differentiate on the basis of imaging studies from non-neoplastic cysts of early childhood. From a multilocular cyst, PPB has the potential to progress to a high-grade multipatterned primitive sarcoma. More than 65% of all affected children have a heterozygous germline mutation in DICER1. The DICER1 PPB familial tumor predisposition syndrome is initially recognized in most cases on the basis of PPB alone but also by several other unique and characteristic extrapulmonary tumors, including pediatric cystic nephroma, nasal chondromesenchymal hamartoma, nodular lesions of the thyroid, embryonal rhabdomyosarcoma of the cervix, and ciliary body medulloepithelioma.
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