dc.contributor.author | Trková, Kateřina | |
dc.contributor.author | Sumerauer, David | |
dc.contributor.author | Krsková, Lenka | |
dc.contributor.author | Vícha, Aleš | |
dc.contributor.author | Koblížek, Miroslav | |
dc.contributor.author | Votava, Tomáš | |
dc.contributor.author | Přibáň, Vladimír | |
dc.contributor.author | Zápotocký, Michal | |
dc.date.accessioned | 2023-12-04T11:10:42Z | |
dc.date.available | 2023-12-04T11:10:42Z | |
dc.date.issued | 2023 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14178/2096 | |
dc.description.abstract | Pontine gliomas represent difficult to treat entity due to the location and heterogeneous biology varying from indolent low-grade gliomas to aggressive diffuse intrinsic pontine glioma (DIPG). Making the correct tumor diagnosis in the pontine location is thus critical. Here, we report a case study of a 14-month-old patient initially diagnosed as histone H3 wild-type DIPG. Due to the low age of the patient, the MRI appearance of DIPG, and anaplastic astrocytoma histology, intensive chemotherapy based on the HIT-SKK protocol with vinblastine maintenance chemotherapy was administered. Rapid clinical improvement and radiological regression of the tumor were observed with nearly complete remission with durable effect and excellent clinical condition more than 6.5 years after diagnosis. Based on this unexpected therapeutic outcome, genome-wide DNA methylation array was employed and the sample was classified into the methylation class "Low-grade glioma, MYB(L1) altered." Additionally, RT-PCR revealed the presence of MYB::QKI fusion. Taken together, the histopathological classification, molecular-genetic and epigenetic features, clinical behavior, and pontine location have led us to reclassify the tumor as a pontine MYB-altered glioma. Our case demonstrates that more intensive chemotherapy can achieve long-term clinical effect in the treatment of MYB-altered pontine gliomas compared to previously used LGG-based regimens or radiotherapy. It also emphasizes the importance of a biopsy and a thorough molecular investigation of pontine lesions. | en |
dc.language.iso | en | |
dc.relation.url | https://doi.org/10.1007/s00381-023-05976-3 | |
dc.rights | Creative Commons Uveďte původ 4.0 International | cs |
dc.rights | Creative Commons Attribution 4.0 International | en |
dc.title | DIPG-like MYB-altered diffuse astrocytoma with durable response to intensive chemotherapy | en |
dcterms.accessRights | openAccess | |
dcterms.license | https://creativecommons.org/licenses/by/4.0/legalcode | |
dc.date.updated | 2023-12-04T11:10:42Z | |
dc.subject.keyword | Chemotherapy | en |
dc.subject.keyword | DIPG | en |
dc.subject.keyword | MYB-altered glioma | en |
dc.subject.keyword | MYB::QKI fusion | en |
dc.subject.keyword | Pediatric pontine glioma | en |
dc.relation.fundingReference | info:eu-repo/grantAgreement/UK/GAUK/GAUK204220 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement///PRIMUS/19/MED/006 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/FN/I-FN/I-FNM | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MSM//LX22NPO5102 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/FN/I-FN/I-FNP-12 | |
dc.date.embargoStartDate | 2023-12-04 | |
dc.type.obd | 73 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | |
dc.identifier.doi | 10.1007/s00381-023-05976-3 | |
dc.identifier.utWos | 000985371200001 | |
dc.identifier.eidScopus | 2-s2.0-85159080427 | |
dc.identifier.obd | 631860 | |
dc.identifier.pubmed | 37165121 | |
dc.subject.rivPrimary | 30000::30200::30204 | |
dc.subject.rivSecondary | 30000::30100::30103 | |
dcterms.isPartOf.name | Child's Nervous System | |
dcterms.isPartOf.issn | 0256-7040 | |
dcterms.isPartOf.journalYear | 2023 | |
dcterms.isPartOf.journalVolume | 39 | |
dcterms.isPartOf.journalIssue | 9 | |
uk.faculty.primaryId | 109 | |
uk.faculty.primaryName | 2. lékařská fakulta | cs |
uk.faculty.primaryName | Second Faculty of Medicine | en |
uk.faculty.secondaryId | 54 | |
uk.faculty.secondaryId | 52 | |
uk.faculty.secondaryName | Fakultní nemocnice Plzeň | cs |
uk.faculty.secondaryName | University Hospital in Pilsen | 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 | 5000002698 | |
uk.department.secondaryId | 100010693933 | |
uk.department.secondaryId | 5000002713 | |
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 | Dětská klinika | cs |
uk.department.secondaryName | Department of Pediatry | 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 | Neurochirurgická klinika | cs |
uk.department.secondaryName | Department of Neurosurgery | 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 | 2509-2513 | |
dc.type.obdHierarchyCs | ČLÁNEK V ČASOPISU::článek v časopisu::kazuistika | cs |
dc.type.obdHierarchyEn | JOURNAL ARTICLE::journal article::casuistics | en |
dc.type.obdHierarchyCode | 73::152::202 | en |
uk.displayTitle | DIPG-like MYB-altered diffuse astrocytoma with durable response to intensive chemotherapy | en |