000136747 001__ 136747
000136747 005__ 20240229105056.0
000136747 0247_ $$2doi$$a10.1007/s00401-018-1840-0
000136747 0247_ $$2pmid$$apmid:29569031
000136747 0247_ $$2ISSN$$a0001-6322
000136747 0247_ $$2ISSN$$a1432-0533
000136747 0247_ $$2altmetric$$aaltmetric:34728693
000136747 037__ $$aDKFZ-2018-01185
000136747 041__ $$aeng
000136747 082__ $$a610
000136747 1001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b0$$eFirst author$$udkfz
000136747 245__ $$aMolecular characterization of medulloblastomas with extensive nodularity (MBEN).
000136747 260__ $$aBerlin$$bSpringer$$c2018
000136747 3367_ $$2DRIVER$$aarticle
000136747 3367_ $$2DataCite$$aOutput Types/Journal article
000136747 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1659961812_8494
000136747 3367_ $$2BibTeX$$aARTICLE
000136747 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000136747 3367_ $$00$$2EndNote$$aJournal Article
000136747 520__ $$aMedulloblastoma with extensive nodularity (MBEN) is a rare histological variant of medulloblastoma (MB). These tumors are usually occurring in the first 3 years of life and are associated with good prognosis. Molecular analyses of MBEN, mostly limited to single cases or small series, have shown that they always classify as sonic hedgehog (SHH)-driven MB. Here, we have analyzed 25 MBEN through genome-wide DNA methylation, copy-number profiling and targeted next-generation sequencing. Results of these analyses were compared with molecular profiles of other SHH MB histological variants. As expected, the vast majority of MBEN (23/25) disclosed SHH-associated epigenetic signatures and mutational landscapes but, surprisingly, two MBEN were classified as Group 3/4 MB. Most MBEN classified as SHH MB displayed SHH-related and mutually exclusive mutations in either SUFU, or PTCH1, or SMO at similar frequencies. However, only SUFU mutations were also identified in the germ-line. Most of SUFU-associated MBEN eventually recurred but patients were treated successfully with second-line high-dose chemotherapy. Altogether, our data show that risk stratification even for well-recognizable histologies such as MBEN cannot rely on histology alone but should include additional molecular analyses such as methylation profiling and DNA sequencing. For all patients with 'MBEN' histology, we recommend sequencing SUFU and PTCH1 in the tumor as well as in the germ-line for further clinical stratification and choice of the optimal treatment strategy upfront.
000136747 536__ $$0G:(DE-HGF)POF3-312$$a312 - Functional and structural genomics (POF3-312)$$cPOF3-312$$fPOF III$$x0
000136747 588__ $$aDataset connected to CrossRef, PubMed,
000136747 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b1$$udkfz
000136747 7001_ $$0P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17$$aStichel, Damian$$b2$$udkfz
000136747 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b3$$udkfz
000136747 7001_ $$aRyzhova, Marina$$b4
000136747 7001_ $$aZheludkova, Olga$$b5
000136747 7001_ $$aGolanov, Andrey$$b6
000136747 7001_ $$0P:(DE-He78)e13b4363c5fe858044ef8a39c02c870c$$aLichter, Peter$$b7$$udkfz
000136747 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b8$$udkfz
000136747 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b9$$udkfz
000136747 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b10$$udkfz
000136747 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b11$$eLast author$$udkfz
000136747 773__ $$0PERI:(DE-600)1458410-4$$a10.1007/s00401-018-1840-0$$gVol. 136, no. 2, p. 303 - 313$$n2$$p303 - 313$$tActa neuropathologica$$v136$$x1432-0533$$y2018
000136747 909CO $$ooai:inrepo02.dkfz.de:136747$$pVDB
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aDeutsches Krebsforschungszentrum$$b0$$kDKFZ
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aDeutsches Krebsforschungszentrum$$b1$$kDKFZ
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17$$aDeutsches Krebsforschungszentrum$$b2$$kDKFZ
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aDeutsches Krebsforschungszentrum$$b3$$kDKFZ
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)e13b4363c5fe858044ef8a39c02c870c$$aDeutsches Krebsforschungszentrum$$b7$$kDKFZ
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)551bb92841f634070997aa168d818492$$aDeutsches Krebsforschungszentrum$$b8$$kDKFZ
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$aDeutsches Krebsforschungszentrum$$b9$$kDKFZ
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aDeutsches Krebsforschungszentrum$$b10$$kDKFZ
000136747 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aDeutsches Krebsforschungszentrum$$b11$$kDKFZ
000136747 9131_ $$0G:(DE-HGF)POF3-312$$1G:(DE-HGF)POF3-310$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunctional and structural genomics$$x0
000136747 9141_ $$y2018
000136747 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz
000136747 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bACTA NEUROPATHOL : 2015
000136747 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS
000136747 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline
000136747 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database
000136747 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search
000136747 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC
000136747 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bThomson Reuters Master Journal List
000136747 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index
000136747 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection
000136747 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded
000136747 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences
000136747 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews
000136747 915__ $$0StatID:(DE-HGF)9910$$2StatID$$aIF >= 10$$bACTA NEUROPATHOL : 2015
000136747 9201_ $$0I:(DE-He78)G380-20160331$$kG380$$lKKE Neuropathologie$$x0
000136747 9201_ $$0I:(DE-He78)L101-20160331$$kL101$$lDKTK Heidelberg$$x1
000136747 9201_ $$0I:(DE-He78)B060-20160331$$kB060$$lB060 Molekulare Genetik$$x2
000136747 9201_ $$0I:(DE-He78)B062-20160331$$kB062$$lB062 Pädiatrische Neuroonkologie$$x3
000136747 980__ $$ajournal
000136747 980__ $$aVDB
000136747 980__ $$aI:(DE-He78)G380-20160331
000136747 980__ $$aI:(DE-He78)L101-20160331
000136747 980__ $$aI:(DE-He78)B060-20160331
000136747 980__ $$aI:(DE-He78)B062-20160331
000136747 980__ $$aUNRESTRICTED