dc.contributor.author | Vícha, Aleš | |
dc.contributor.author | Jenčová, Pavla | |
dc.contributor.author | Nováková Kodetová, Daniela | |
dc.contributor.author | Štolová, Lucie | |
dc.contributor.author | Voříšková, Dagmar | |
dc.contributor.author | Vyleťalová, Kristýna | |
dc.contributor.author | Brož, Petr | |
dc.contributor.author | Drahokoupilová, Eva | |
dc.contributor.author | Guha, Anasuya | |
dc.contributor.author | Kopecká, Marie | |
dc.contributor.author | Krsková, Lenka | |
dc.date.accessioned | 2023-08-16T07:10:27Z | |
dc.date.available | 2023-08-16T07:10:27Z | |
dc.date.issued | 2023 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14178/1999 | |
dc.description.abstract | Rhabdomyosarcomas (RMS) constitute a heterogeneous spectrum of tumors with respect to clinical behavior and tumor morphology. The paternal uniparental disomy (pUPD) of 11p15.5 is a molecular change described mainly in embryonal RMS. In addition to LOH, UPD, the MLPA technique (ME030kit) also determines copy number variants and methylation of H19 and KCNQ1OT1 genes, which have not been systematically investigated in RMS. All 127 RMS tumors were divided by histology and PAX status into four groups, pleomorphic histology (n = 2); alveolar RMS PAX fusion-positive (PAX+; n = 39); embryonal RMS (n = 70) and fusion-negative RMS with alveolar pattern (PAX-RMS-AP; n = 16). The following changes were detected; negative (n = 21), pUPD (n = 75), gain of paternal allele (n = 9), loss of maternal allele (n = 9), hypermethylation of H19 (n = 6), hypomethylation of KCNQ1OT1 (n = 6), and deletion of CDKN1C (n = 1). We have shown no difference in the frequency of pUPD 11p15.5 in all groups. Thus, we have proven that changes in the 11p15.5 are not only specific to the embryonal RMS (ERMS), but are often also present in alveolar RMS (ARMS). We have found changes that have not yet been described in RMS. We also demonstrated new potential diagnostic markers for ERMS (paternal duplication and UPD of whole chromosome 11) and for ARMS PAX+ (hypomethylation KCNQ1OT1). | en |
dc.language.iso | en | |
dc.relation.url | https://doi.org/10.1002/gcc.23194 | |
dc.rights | Creative Commons Uveďte původ-Neužívejte dílo komerčně-Nezpracovávejte 4.0 International | cs |
dc.rights | Creative Commons Attribution-NonCommercial-NoDerivativeWorks 4.0 International | en |
dc.title | Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma? | en |
dcterms.accessRights | openAccess | |
dcterms.license | https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode | |
dc.date.updated | 2024-07-29T17:45:54Z | |
dc.subject.keyword | CDKN1C | en |
dc.subject.keyword | H19 | en |
dc.subject.keyword | KCNQ1OT1 | en |
dc.subject.keyword | PAX | en |
dc.subject.keyword | UPD | en |
dc.subject.keyword | alveolar RMS | en |
dc.subject.keyword | embryonal RMS | en |
dc.identifier.eissn | 1098-2264 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MSM//LX22NPO5102 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/FN/I-FN/I-FNM | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/UK/V-UK/V-3LF | |
dc.date.embargoStartDate | 2024-07-29 | |
dc.type.obd | 73 | |
dc.type.version | info:eu-repo/semantics/acceptedVersion | |
dc.identifier.doi | 10.1002/gcc.23194 | |
dc.identifier.utWos | 001041476000001 | |
dc.identifier.eidScopus | 2-s2.0-85166634411 | |
dc.identifier.obd | 633958 | |
dc.identifier.riv | RIV/00216208:11120/23:43925924 | |
dc.identifier.riv | RIV/00216208:11130/23:10466298 | |
dc.identifier.pubmed | 37530573 | |
dc.subject.rivPrimary | 30000::30100::30109 | |
dc.subject.rivSecondary | 30000::30200::30204 | |
dc.subject.rivSecondary | 30000::30100::30101 | |
dcterms.isPartOf.name | Genes, Chromosomes & Cancer | |
dcterms.isPartOf.issn | 1045-2257 | |
dcterms.isPartOf.journalYear | 2023 | |
dcterms.isPartOf.journalVolume | 62 | |
dcterms.isPartOf.journalIssue | 12 | |
uk.faculty.primaryId | 109 | |
uk.faculty.primaryName | 2. lékařská fakulta | cs |
uk.faculty.primaryName | Second Faculty of Medicine | en |
uk.faculty.secondaryId | 110 | |
uk.faculty.secondaryId | 52 | |
uk.faculty.secondaryName | 3. lékařská fakulta | cs |
uk.faculty.secondaryName | Third Faculty of Medicine | en |
uk.faculty.secondaryName | Fakultní nemocnice v Motole | cs |
uk.faculty.secondaryName | Motol University Hospital | en |
uk.department.primaryId | 109 | |
uk.department.primaryName | 2. lékařská fakulta | cs |
uk.department.primaryName | Second Faculty of Medicine | en |
uk.department.secondaryId | 1675 | |
uk.department.secondaryId | 1705 | |
uk.department.secondaryId | 613 | |
uk.department.secondaryId | 100010693933 | |
uk.department.secondaryId | 100010692507 | |
uk.department.secondaryName | Klinika dětské hematologie a onkologie | cs |
uk.department.secondaryName | Klinika dětské hematologie a onkologie | en |
uk.department.secondaryName | Ústav patologie a molekulární medicíny | cs |
uk.department.secondaryName | Ústav patologie a molekulární medicíny | en |
uk.department.secondaryName | Klinika otorinolaryngologická 3. LF UK a FNKV | cs |
uk.department.secondaryName | Department of Otorhinolaryngology 3FM CU and UHKV | en |
uk.department.secondaryName | Ústav patologie a molekulární medicíny 2. LF UK a FN Motol | cs |
uk.department.secondaryName | Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine and Motol University Hospit | en |
uk.department.secondaryName | Klinika dětské hematologie a onkologie 2. LF UK a FN Motol | cs |
uk.department.secondaryName | Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine and Motol University Hos | en |
dc.description.pageRange | 732-739 | |
dc.type.obdHierarchyCs | ČLÁNEK V ČASOPISU::článek v časopisu::původní článek | cs |
dc.type.obdHierarchyEn | JOURNAL ARTICLE::journal article::original article | en |
dc.type.obdHierarchyCode | 73::152::206 | en |
uk.displayTitle | Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma? | en |