Abstract：
:DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied on the other allele by somatic missense mutations occurring at one of a few mutation hotspots within the sequence encoding the RNase IIIb domain. DICER1 encodes a member of the microRNA biogenesis machinery. The syndrome spectrum is highly pleiotropic and features a unique constellation of benign and malignant neoplastic and dysplastic lesions. Pleuropulmonary blastoma (PPB), the most common primary lung cancer in children, is the hallmark tumor of the syndrome. Other manifestations include ovarian Sertoli-Leydig cell tumor, cystic nephroma arising in childhood, multinodular goiter, thyroid carcinoma, anaplastic sarcoma of the kidney, embryonal rhabdomyosarcoma, and nasal chondromesenchymal hamartoma, in addition to other rare entities. Several central nervous system (CNS) manifestations have also been defined, including metastases of PPB to the cerebrum, pituitary blastoma, pineoblastoma, ciliary body medulloepithelioma, and most recently primary DICER1-associated CNS sarcomas and ETMR-like infantile cerebellar embryonal tumor. Macrocephaly is a recently reported non-neoplastic, haploinsufficient phenotype. In this manuscript, we review the CNS manifestations of DICER1 syndrome.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
de Kock L,Priest JR,Foulkes WD,Alexandrescu Sdoi
10.1007/s00401-019-01997-ysubject
Has Abstractpub_date
2020-04-01 00:00:00pages
689-701issue
4eissn
0001-6322issn
1432-0533pii
10.1007/s00401-019-01997-yjournal_volume
139pub_type
杂志文章,评审abstract：:Abnormal TDP-43 aggregation is a prominent feature in the neuropathology of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. Mutations in TARDBP, the gene encoding TDP-43, cause some cases of ALS. The normal function of TDP-43 remains incompletely understood. To better understand TDP-43 biolo...
journal_title：Acta neuropathologica
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更新日期：2010-04-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
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pub_type： 杂志文章
doi：10.1007/s00401-019-02067-z
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pub_type： 杂志文章
doi：10.1007/s00401-006-0031-6
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abstract：:The microtubule-associated protein tau accumulates as cytoplasmic inclusions in Alzheimer's disease (AD), Pick's disease (PiD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). We investigated the immunoreactivity of tau-positive structures using a panel of antibodies to epitopes spanning the ...
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doi：10.1007/s00401-003-0671-8
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294305
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00685966
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pub_type： 杂志文章
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00690634
更新日期：1982-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00307635
更新日期：1990-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00691285
更新日期：1989-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00296784
更新日期：1992-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010000265
更新日期：2001-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-017-1785-8
更新日期：2018-02-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-003-0771-5
更新日期：2004-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00427225
更新日期：1992-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010051133
更新日期：2000-04-01 00:00:00
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pub_type： 杂志文章
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更新日期：2002-12-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00227665
更新日期：1992-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00293325
更新日期：1994-01-01 00:00:00
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pub_type： 杂志文章
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更新日期：2008-04-01 00:00:00
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pub_type： 杂志文章
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更新日期：2011-02-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
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更新日期：2003-06-01 00:00:00
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更新日期：2006-03-01 00:00:00
abstract：:We investigated the distribution of prion protein (PrP) in 14 German patients with sporadic Creutzfeldt-Jakob disease (CJD) and compared it with that observed in Japanese patients. Immunohistochemical study revealed diffuse gray matter stainings including synaptic structures in all cases. In addition, 4 patients showe...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294174
更新日期：1994-01-01 00:00:00
abstract：:Data on the dural invasiveness of pituitary adenomas have been correlated to the expression of matrix metalloproteinases (e.g. MMP-9). Serine proteases have not yet been investigated in human pituitary adenomas. In this study, paraffin-embedded material from 84 human pituitary adenomas (acromegaly n=18, Cushing's dise...
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pub_type： 杂志文章
doi：10.1007/s00401-003-0747-5
更新日期：2003-11-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章,评审
doi：10.1007/s00401-015-1524-y
更新日期：2016-03-01 00:00:00
abstract：:Inflammatory processes have been implicated in the formation of senile plaques in the cerebral cortex of patients with dementia of the Alzheimer type (DAT), since several inflammation-induced proteins are present within these plaques. The relation between inflammatory components and other amyloid beta protein (A beta)...
journal_title：Acta neuropathologica
pub_type： 杂志文章
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更新日期：1996-01-01 00:00:00
abstract：:In comparison to the levels in age and gender-matched controls, reduced levels of pathological amyloid-β protein in cerebrospinal fluid routinely precede the onset of Alzheimer's disease-related symptoms by several years, whereas elevated soluble abnormal tau fractions (phosphorylated tau, total tau protein) in cerebr...
journal_title：Acta neuropathologica
pub_type： 杂志文章,评审
doi：10.1007/s00401-013-1139-0
更新日期：2013-11-01 00:00:00
