Home > Publications database > Renal Medullary Carcinomas Harbor a Distinct Methylation Phenotype and Display Aberrant Methylation of Genes Related to Early Nephrogenesis. > print

001     182309
005     20240229145715.0
024 7 _ |a 10.3390/cancers14205044
|2 doi
024 7 _ |a pmid:36291828
|2 pmid
024 7 _ |a altmetric:137749269
|2 altmetric
037 _ _ |a DKFZ-2022-02566
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Fincke, Victoria E
|0 0000-0001-7488-6885
|b 0
245 _ _ |a Renal Medullary Carcinomas Harbor a Distinct Methylation Phenotype and Display Aberrant Methylation of Genes Related to Early Nephrogenesis.
260 _ _ |a Basel
|c 2022
|b MDPI
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1667214658_12892
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
500 _ _ |a #LA:B062#
520 _ _ |a Renal medullary carcinomas (RMC) are rare aggressive tumors of the kidneys, characterized by a loss of SMARCB1. Characteristically, these tumors arise in patients with sickle cell trait or other hemoglobinopathies. Recent characterization efforts have unraveled oncogenic pathways that drive tumorigenesis. Among these, gene sets that characterize replicative stress and the innate immune response are upregulated in RMCs. Despite comprehensive genetic and transcriptomic characterizations, commonalities or differences to other SMARCB1 deficient entities so far have not been investigated. We analyzed the methylome of seven primary RMC and compared it to other SMARCB1 deficient entities such as rhabdoid tumors (RT) and epithelioid sarcomas using 850 K methylation arrays. Moreover, we evaluated the differential gene expression of RMC using RNA-sequencing in comparison to other rhabdoid tumors. In accordance with previous gene expression data, we found that RMCs separate from other SMARCB1 deficient entities, pointing to a potentially different cell of origin and a role of additional genetic aberrations that may drive tumorigenesis and thus alter the methylome when compared to rhabdoid tumors. In a focused analysis of genes that are important for nephrogenesis, we particularly detected genes that govern early nephrogenesis such as FOXI1 to be hypomethylated and expressed at high levels in RMC. Overall, our analyses underscore the fact that RMCs represent a separate entity with limited similarities to rhabdoid tumors, warranting specific treatment tailored to the aggressiveness of the disease.
536 _ _ |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312)
|0 G:(DE-HGF)POF4-312
|c POF4-312
|f POF IV
|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
650 _ 7 |a DNA methylation
|2 Other
650 _ 7 |a SMARCB1 loss
|2 Other
650 _ 7 |a renal medullary carcinoma
|2 Other
700 1 _ |a Krulik, Mateja E
|b 1
700 1 _ |a Joshi, Piyush
|0 P:(DE-He78)ee036c22158d4b18f5228616af640355
|b 2
|u dkfz
700 1 _ |a Frühwald, Michael C
|b 3
700 1 _ |a Chen, Ying-Bei
|b 4
700 1 _ |a Johann, Pascal
|0 P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8
|b 5
|e Last author
|u dkfz
773 _ _ |a 10.3390/cancers14205044
|g Vol. 14, no. 20, p. 5044 -
|0 PERI:(DE-600)2527080-1
|n 20
|p 5044
|t Cancers
|v 14
|y 2022
|x 2072-6694
909 C O |o oai:inrepo02.dkfz.de:182309
|p VDB
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 2
|6 P:(DE-He78)ee036c22158d4b18f5228616af640355
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 5
|6 P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8
913 1 _ |a DE-HGF
|b Gesundheit
|l Krebsforschung
|1 G:(DE-HGF)POF4-310
|0 G:(DE-HGF)POF4-312
|3 G:(DE-HGF)POF4
|2 G:(DE-HGF)POF4-300
|4 G:(DE-HGF)POF
|v Funktionelle und strukturelle Genomforschung
|x 0
914 1 _ |y 2022
915 _ _ |a Creative Commons Attribution CC BY (No Version)
|0 LIC:(DE-HGF)CCBYNV
|2 V:(DE-HGF)
|b DOAJ
|d 2021-05-04
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0160
|2 StatID
|b Essential Science Indicators
|d 2021-05-04
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1190
|2 StatID
|b Biological Abstracts
|d 2021-05-04
915 _ _ |a WoS
|0 StatID:(DE-HGF)0113
|2 StatID
|b Science Citation Index Expanded
|d 2021-05-04
915 _ _ |a Article Processing Charges
|0 StatID:(DE-HGF)0561
|2 StatID
|d 2021-05-04
915 _ _ |a Fees
|0 StatID:(DE-HGF)0700
|2 StatID
|d 2021-05-04
915 _ _ |a JCR
|0 StatID:(DE-HGF)0100
|2 StatID
|b CANCERS : 2021
|d 2022-11-30
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0200
|2 StatID
|b SCOPUS
|d 2022-11-30
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0300
|2 StatID
|b Medline
|d 2022-11-30
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0501
|2 StatID
|b DOAJ Seal
|d 2022-01-24T07:56:58Z
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0500
|2 StatID
|b DOAJ
|d 2022-01-24T07:56:58Z
915 _ _ |a Peer Review
|0 StatID:(DE-HGF)0030
|2 StatID
|b DOAJ : Blind peer review
|d 2022-01-24T07:56:58Z
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0600
|2 StatID
|b Ebsco Academic Search
|d 2022-11-30
915 _ _ |a Peer Review
|0 StatID:(DE-HGF)0030
|2 StatID
|b ASC
|d 2022-11-30
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0199
|2 StatID
|b Clarivate Analytics Master Journal List
|d 2022-11-30
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0150
|2 StatID
|b Web of Science Core Collection
|d 2022-11-30
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1050
|2 StatID
|b BIOSIS Previews
|d 2022-11-30
915 _ _ |a IF >= 5
|0 StatID:(DE-HGF)9905
|2 StatID
|b CANCERS : 2021
|d 2022-11-30
920 2 _ |0 I:(DE-He78)B062-20160331
|k B062
|l B062 Pädiatrische Neuroonkologie
|x 0
920 1 _ |0 I:(DE-He78)B062-20160331
|k B062
|l B062 Pädiatrische Neuroonkologie
|x 0
920 1 _ |0 I:(DE-He78)HD01-20160331
|k HD01
|l DKTK HD zentral
|x 1
980 _ _ |a journal
980 _ _ |a VDB
980 _ _ |a I:(DE-He78)B062-20160331
980 _ _ |a I:(DE-He78)HD01-20160331
980 _ _ |a UNRESTRICTED

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21