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Germ-line and somatic DICER1 mutations in pineoblastoma.
de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD. de Kock L, et al. Acta Neuropathol. 2014 Oct;128(4):583-95. doi: 10.1007/s00401-014-1318-7. Epub 2014 Jul 15. Acta Neuropathol. 2014. PMID: 25022261 Free PMC article.
The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ
The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in b …
DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.
González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, Dehner LP. González IA, et al. Mod Pathol. 2022 Jan;35(1):4-22. doi: 10.1038/s41379-021-00905-8. Epub 2021 Oct 1. Mod Pathol. 2022. PMID: 34599283 Free PMC article. Review.
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. ...These pathologic findings in the appropriate clinical setting should serve to alert the pathologist to t
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICE
All pineal tumors expressing germ cell tumor markers are not necessarily germ cell tumors: histopathological and molecular study of a midline primary intracranial sarcoma DICER1-mutant.
Wolf T, Coca AH, Weingertner N, Chenard MP, Meurgey A, Reita D, Pencreach E, Varlet P, Entz-Werlé N, Lhermitte B. Wolf T, et al. Virchows Arch. 2023 Feb;482(2):431-435. doi: 10.1007/s00428-022-03440-2. Epub 2022 Oct 28. Virchows Arch. 2023. PMID: 36307659
It is defined as a spindle cell sarcoma dysplaying eosinophilic intracytoplasmic globules, myogenic differentiation, and DICER1 gene mutation, either somatic or germline. Most reported cases were hemispheric except one, recently described in the pineal region …
It is defined as a spindle cell sarcoma dysplaying eosinophilic intracytoplasmic globules, myogenic differentiation, and DICER1 gene …