DICER1 mutations in primary central nervous system tumors: new insights into histologies, mutations, and prognosis
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DOI: 10.1007/s11060-022-03994-w
Abstract: We sought to characterize clinical outcomes for adult and pediatric patients with primary CNS tumors harboring DICER1 mutations or loss of DICER1. We conducted a retrospective cohort study of 98 patients who were treated between… read more here.
Keywords: cns tumors; glioma; dicer1 mutations; grade glioma ... See more keywords
Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors
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DOI: 10.1007/s12105-022-01417-w
Abstract: DICER1 syndrome is an autosomal dominant tumor predisposition syndrome caused by germline DICER1 mutations. In the thyroid, DICER1 syndrome is associated with early-onset multinodular goiter and thyroid carcinomas. Subsequent studies have shown that somatic DICER1… read more here.
Keywords: pathology; thyroid carcinomas; dicer1 mutations; dicer1 ... See more keywords
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations
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DOI: 10.1038/modpathol.2017.100
Abstract: Anaplastic sarcoma of the kidney is a rare tumor (≤25 reported cases) characterized by the presence of cysts, and solid areas composed of bundles of undifferentiated spindle cells, showing marked cellular anaplasia (usually accompanied by… read more here.
Keywords: dicer1 mutations; generation; anaplastic sarcomas; sarcomas kidney ... See more keywords
Abstract 4605: DICER1 mutations are associated with diverse and frequently histologically mixed-type malignancies in young and adult patients
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DOI: 10.1158/1538-7445.am2018-4605
Abstract: Introduction: DICER1 is a ribonuclease III enzyme that processes pre-microRNAs into mature 20-23 nucleotide microRNAs required for their normal function. Heterozygous germline DICER1 loss-of-function mutations are associated with a cancer predisposition syndrome in which affected… read more here.
Keywords: adult; dicer1; dicer1 mutations; type malignancies ... See more keywords
Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
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DOI: 10.5935/1676-2444.20180056
Abstract: Paediatric cystic nephroma is a neoplasm of uncertain pathogenesis characterized by a multilocular architecture that develops in children. Some cases may be sporadic, and others may present a familial association, together with other neoplasms, as… read more here.
Keywords: nephroma; mutations report; dicer1 mutations; cystic nephroma ... See more keywords