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Published in 2023 at "Diagnostic Cytopathology"
DOI: 10.1002/dc.25105
Abstract: Thyroblastoma is a rare, aggressive embryonal thyroid neoplasm associated with DICER1 mutation. It usually presents as a rapidly growing thyroid mass diffusely infiltrating the thyroid lobes and extending into perithyroidal tissue. Most thyroblastomas were initially…
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Keywords:
thyroblastoma dicer1;
dicer1 associated;
neoplasm;
fine needle ... See more keywords
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Published in 2022 at "Human pathology"
DOI: 10.1016/j.humpath.2022.02.018
Abstract: Many sarcomas with DICER1 pathogenic variants (PVs) exhibit a characteristic morphology, including a subepithelial layer of malignant mesenchymal cells, areas of rhabdomyoblastic differentiation and cartilaginous and/ or osseous elements. We report 5 DICER1-associated neoplasms (1…
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Keywords:
dicer1 associated;
morphological spectrum;
dicer1;
part morphological ... See more keywords
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Published in 2019 at "Modern Pathology"
DOI: 10.1038/s41379-019-0366-x
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…
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Keywords:
sarcoma;
dicer1 associated;
dicer1;
associated sarcomas ... See more keywords
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Published in 2018 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-17-3089
Abstract: Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord–stromal tumors, particularly Sertoli–Leydig cell tumor,…
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Keywords:
dicer1 associated;
risk;
dicer1;
associated conditions ... See more keywords