DICER1-related tumor predisposition
MONDO:0100216Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.
Also known as: DICER1 syndrome, PPB familial tumour susceptibility syndrome, PPBFTDS, pleuro-pulmonary blastoma familial tumour susceptibility syndrome, pleuropulmonary blastoma familial tumour susceptibility syndrome, DICER1-related pleuropulmonary blastoma, DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
5 clinical trials for this condition and its sub-types.
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Broader categories
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New hope for kids with rare lung cancer: tailored chemo trial launches
Disease control Recruiting nowThis phase 3 trial studies the best way to treat pleuropulmonary blastoma (PPB), a rare childhood lung tumor. For type I PPB, it compares surgery alone to surgery plus chemotherapy. For types II and III, it tests adding the drug topotecan to standard chemotherapy. About 110 child…
Phase: PHASE3 • Sponsor: Children's Oncology Group • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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Rare cancer syndrome under the microscope: what families need to know
Knowledge-focused Recruiting nowThis study follows people with a rare genetic condition called DICER1 syndrome, which raises the risk of certain childhood cancers like pleuropulmonary blastoma. Researchers will collect medical histories, genetic samples, and tissue from up to 1,500 participants and their relati…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Hunt for hidden cancer genes: families needed to unlock hereditary secrets
Knowledge-focused Recruiting nowThis study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Can a smartwatch track how kids recover from cancer surgery?
Knowledge-focused Recruiting nowThis study is testing whether smartwatches and blood tests can measure how well children recover after surgery to remove a solid tumor. About 40 children and their caregivers will wear smartwatches and answer questionnaires before surgery and for up to a year after. Researchers w…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:14 UTC