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Article

DICER1 mutations in familial pleuropulmonary blastoma.

Science (New York, N.Y.) - 21 Aug 2009

Hill D Ashley, Ivanovich Jennifer, Priest John R, Gurnett Christina A, Dehner Louis P, Desruisseau David, Jarzembowski Jason A, Wikenheiser-Brokamp Kathryn A, Suarez Brian K, Whelan Alison J, Williams Gretchen, Bracamontes Dawn, Messinger Yoav, Goodfellow Paul J

Abstract excerpt

Pleuropulmonary blastoma (PPB) is a rare pediatric lung tumor that is often part of an inherited cancer syndrome. PPBs consist of mesenchymal cells that are susceptible to malignant transformation and cysts lined by epithelial cells. In a subset of patients, overgrowth of the cysts by mesenchymal cells leads to sarcoma formation. Here, we show that 11 multiplex PPB families harbor heterozygous germline mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19556464
DOI: 10.1126/science.1174334
PMCID: PMC3098036

Genes

DICER1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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DICER1 mutations in familial pleuropulmonary blastoma.PMID 19556464Read ↗

Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.Semantic proximity Read ↗

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Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression modelSemantic proximity Read ↗

Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary BlastomaSemantic proximity Read ↗

Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression modelSemantic proximity Read ↗

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