Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma.

Abstract excerpt

DICER1 syndrome (OMIM 601200) is a rare autosomal dominant familial tumor susceptibility disorder with heterozygous DICER1 germline mutations. The most common tumor in clinical practice is pleuropulmonary blastoma. Pleuropulmonary blastoma is a rare pediatric lung tumor that begins during fetal lung development and is part of an inherited tumor syndrome. We found a patient with pleuropulmonary blastoma in...

Topics

• Female
• Humans
• Male
• DEAD-box RNA Helicases
• Genetic Predisposition to Disease
• Introns
• Lung Neoplasms