ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
Expanding the spectrum of dicer1-associated sarcomas.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.Familial cancer · 2021Guideline
- Primary CNS sarcoma, DICER1-mutant with rhabdomyoblastic differentiation arising within the thoracic spine: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Sinonasal DICER1‑mutated embryonal-like (botryoid-like) rhabdomyosarcoma in an adult: report of the first case.Virchows Archiv : an international journal of pathology · 2026Article
- Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.Virchows Archiv : an international journal of pathology · 2026Review
- Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution.Virchows Archiv : an international journal of pathology · 2025Article
- RAS pathway targeted therapy in patients with DICER1-associated sarcomas.NPJ precision oncology · 2025Article
- Mesenchymal Nonmeningothelial Tumors of the CNS: Evolving Molecular Landscape and Implications for Neuroradiologists.AJNR. American journal of neuroradiology · 2025Review
- Review
- Alternative driver pathways in peripheral nerve sheath tumors - including DICER1 and/or KRAS alterations.The Journal of pathology · 2025Article
- Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology.Virchows Archiv : an international journal of pathology · 2025Review
- Botryoid-type Embryonal Rhabdomyosarcoma: A Comprehensive Clinicopathologic and Molecular Appraisal With Cross-comparison to its Conventional-type Counterpart.The American journal of surgical pathology · 2024Article
- Histone H3 trimethylation on lysine 27 immunostaining pattern inTranslational pediatrics · 2024Article
- Clinicopathological analysis of 22 Müllerian adenosarcomas and the sequencing of DICER1 mutation.Diagnostic pathology · 2024Article
- Article
- Relevance of Molecular Pathology for the Diagnosis of Sex Cord-Stromal Tumors of the Ovary: A Narrative Review.Cancers · 2023Review
- Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.Familial cancer · 2023Article
- Article
- Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.Nature communications · 2023Article
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
- Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities.Acta neuropathologica communications · 2023Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
DICER1 syndrome is a hereditary cancer predisposition syndrome caused by deleterious germline DICER1 mutations. Characteristic "hotspot" somatic mutations of DICER1 have been identified in DICER1-associated tumors. With the exception of genitourinary embryonal rhabdomyosarcoma and anaplastic sarcoma of the kidney, sarcomas are rarely reported in DICER1 syndrome. Herein, we report the clinical, histopathologic, and molecular findings of a germline DICER1-associated ovarian sarcoma in a 5-year-old female, a somatic DICER1-associated metastatic peritoneal sarcoma in a 16-year-old female, and a somatic DICER1-associated primary intracranial sarcoma in a 4-year-old male. A comprehensive review of the literature, including 83 DICER1-associated sarcomas, illustrates an unequivocal histologic pattern mimicking pleuropulmonary blastoma, regardless of the site of origin. The features include undifferentiated small round blue cells, poorly differentiated spindle cells, and large bizarre pleomorphic cells (anaplasia), often with rhabdomyoblastic and/or chondroid differentiation, and rare bone/osteoid formation. This unique heterogeneous histologic pattern should raise suspicion for pathogenic DICER1 mutation(s) warranting a detailed review of the family history and DICER1 mutation analysis. In addition to expanding the phenotypic spectrum of DICER1-associated conditions, identification of pathogenic DICER1 variants facilitates optimized genetic counseling, caregiver education and judicious imaging-based surveillance.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.