Associated Papers
YAP1::MAML2 fusion, a newly identified genetic anomaly in a posterior fossa infant tumor, associated with the methylation class "embryonal tumor with multilayered rosettes, non-C19MC-altered" in the Heidelberg central nervous system tumor classifier and "embryonal tumor with multilayered rosettes-DICER" in the NIH classifier.
Godfraind C et al.
Acta Neuropathologica Communications, 2025
A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.
Němejcová K et al.
Virchows Archiv : an International Journal of Pathology, 2025
Clinical, molecular and radiological characteristics of thyroid nodules with somatic DICER1 mutations in adults.
Han Y et al.
Endocrine Connections, 2025
Somatic DICER1-Mutant Benign Thyroid Nodules in Adults: A Group of Follicular Nodular Disease With Continuous Growth.
Meng L et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism.
Salvador L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.
Manea S et al.
Cancers, 2025
Pathological and clinical insights into DICER1 hotspot mutated Sertoli-Leydig cell tumors: a comparative analysis.
Lyu Z et al.
Diagnostic Pathology, 2025
Prognostic Significance of Germline DICER1 Pathogenic or Likely Pathogenic Variants in Outcomes of Ovarian Sertoli-Leydig Cell Tumor.
Nelson AT et al.
Jco Precision Oncology, 2025
Brain metastasis of pleuropulmonary blastoma: case reports.
He S et al.
Translational Pediatrics, 2025
DICER1 Mutations Define the Landscape of Poorly Differentiated Thyroid Carcinoma in Children and Young Adults : Case Report and Literature Review.
Ver Berne J et al.
The American Journal of Surgical Pathology, 2024
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect.
Del Baldo G et al.
Scientific Reports, 2024
Atrophic changes in thyroid tumors are strong indicators of underlying DICER1 mutations: a bi-institutional genotype-phenotype correlation study.
Condello V et al.
Virchows Archiv : an International Journal of Pathology, 2024
Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.
Pelletier D et al.
Virchows Archiv : an International Journal of Pathology, 2024
Comprehensive evaluation of cytomorphologic, histologic, and molecular features of DICER1-altered thyroid lesions on FNA: A multipractice experience.
Lengyel K et al.
Cancer Cytopathology, 2024
Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature.
Campos Mármol MC et al.
Pathologica, 2024
A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts.
Kim J et al.
Genetics in Medicine Open, 2024
Methylation-based Subclassifications of Embryonal Tumor with Multilayered Rosettes in Not Just Pediatric Brains.
Kim EE et al.
Experimental Neurobiology, 2023
A Rare Adult Primary Intracranial Sarcoma, DICER1-Mutant Identified by Epigenomic Profiling: A Case Report.
Marinelli A et al.
Brain Sciences, 2023
Primary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature.
Leelatian N et al.
Journal of Neuropathology and Experimental Neurology, 2022
An Unusual Enteric Yolk Sac Tumor: First Report of an Ovarian Germ Cell Tumor Associated With a Germline Pathogenic Variant in DICER1.
McCluggage WG et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2022
Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.
Vibert R et al.
Clinical Chemistry, 2022
Prevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology.
Chong AS et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Rare DICER1 and Absent FOXL2 Mutations Characterize Ovarian Juvenile Granulosa Cell Tumors.
Baillard P et al.
The American Journal of Surgical Pathology, 2021
A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.
Mirshahi UL et al.
Jama Network Open, 2021
Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.
Tan LC et al.
Frontiers in Oncology, 2021
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.
Li J et al.
Journal of Translational Medicine, 2020
Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation.
Nakano Y et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.
de Kock L et al.
Human Mutation, 2019
Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant".
Sakaguchi M et al.
Brain Tumor Pathology, 2019
DICER1 and FOXL2 Mutation Status Correlates With Clinicopathologic Features in Ovarian Sertoli-Leydig Cell Tumors.
Karnezis AN et al.
The American Journal of Surgical Pathology, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome.
van der Tuin K et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors.
de Kock L et al.
The American Journal of Surgical Pathology, 2017
Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung.
de Kock L et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2016
The oncogenic roles of DICER1 RNase IIIb domain mutations in ovarian Sertoli-Leydig cell tumors.
Wang Y et al.
Neoplasia (new York, N.y.), 2015
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.
Klein S et al.
Journal of Medical Genetics, 2014
DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours.
de Boer CM et al.
Bmc Research Notes, 2012
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.
Heravi-Moussavi A et al.
The New England Journal of Medicine, 2012