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Article

Somatic DICER1 Mutations in a Pubertal Girl with Cervical Embryonal Rhabdomyosarcoma and Papillary Thyroid Adenoma.

Journal of pediatric and adolescent gynecology - 1 Dec 2020

Zhang Lu, Ye Hong, Jin Yulan, Zhong Pingping, Duan Hua

Abstract excerpt

BACKGROUND: DICER1 syndrome is an inherited tumor predisposition syndrome. A germline mutation in DICER1 increases the risk for a spectrum of rare tumors. We describe a case of somatic DICER1 mutation in a pubertal girl, who is affected by different tumors of the DICER1 syndrome, including embryonal rhabdomyosarcoma (ERMS) of the cervix and thyroid adenoma. CASE: A 16-year-old girl with history of papillary...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32682898
DOI: 10.1016/j.jpag.2020.07.003

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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.

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