ArticleScientific reports2018
Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 30 citations in OpenAlex.
- DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology.Biology · 2025Review
- Relevance of Molecular Pathology for the Diagnosis of Sex Cord-Stromal Tumors of the Ovary: A Narrative Review.Cancers · 2023Review
- Fallopian tube lesions as potential precursors of early ovarian cancer: a comprehensive proteomic analysis.Cell death & disease · 2023Article
- Phenotypic similarities within the morphologic spectrum of DICER1-associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting.Pediatric blood & cancer · 2022Article
- Application of Multi-Omics Approach in Sarcomas: A Tool for Studying Mechanism, Biomarkers, and Therapeutic Targets.Frontiers in oncology · 2022Review
- Article
- Germline predisposition to genitourinary rhabdomyosarcoma.Translational andrology and urology · 2020Review
- Dicing the Disease with Dicer: The Implications of Dicer Ribonuclease in Human Pathologies.International journal of molecular sciences · 2020Review
- Rapidly recurring ovarian fibrosarcoma after optimal debulking surgery in a 46-year-old woman.BMJ case reports · 2020Article
- Expanding the spectrum of dicer1-associated sarcomas.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- DICER1 Syndrome: DICER1 Mutations in Rare Cancers.Cancers · 2018Review
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ovarian fibrosarcomas are extremely rare tumors with little genomic information available to date. In the present report we present the tumoral exome and transcriptome and the germinal exome of an ovarian fibrosarcoma from a 9-years old child. We found a paucity of mutations (0.77/Mb) and CNV alterations. Of these, the most relevant were a point mutation in the metal-binding site of the microRNA-processing DICER1 enzyme and a frame-shift alteration in the tumor suppressor gene NF1. We validated a germinal truncating mutation in DICER1, which was consistent with a DICER1 Syndrome diagnosis, providing the first example of an ovarian fibrosarcoma as the presenting neoplasia in this syndrome. Network and enrichment analyses showed that both a mesenchymal signature and a Hedgehog cascade could be driving the progression of this tumor. We were also able to find a global lincRNA deregulation, as the number of lincRNAs transcripts expressed in the tumor was decreased, with a concomitant upregulation of previously described non-coding transcripts associated with cancer, such as MALAT1, MIR181A1HG, CASC1, XIST and FENDRR. DICER1 Syndrome should be considered as a possible diagnosis in children ovarian fibrosarcoma. The role of lncRNAs in neoplasias associated with DICER1 alterations need to be studied in more detail.
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