Albrecht Stenzinger, Volker Endris, Nicole Pfarr, Mindaugas Andrulis, Korinna Jöhrens, Frederick Klauschen, Udo Siebolts, Thomas Wolf, Philipp-Sebastian Koch, Miriam Schulz, Wolfgang Hartschuh, Sergij Goerdt, Jochen K. Lennerz, Claudia Wickenhauser, Wolfram Klapper, Ioannis Anagnostopoulos, Wilko Weichert
- Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare haematopoietic malignancy characterized by dismal prognosis and overall poor therapeutic response. Since the biology of BPDCN is barely understood, our study aims to shed light on the genetic make-up of these highly malignant tumors. Using targeted high-coverage massive parallel sequencing, we investigated 50 common cancer genes in 33 BPDCN samples. We detected point mutations in NRAS (27.3% of cases), ATM (21.2%), MET, KRAS, IDH2, KIT (9.1% each), APC and RB1 (6.1% each), as well as in VHL, BRAF, MLH1, TP53 and RET (3% each). Moreover, NRAS, KRAS and ATM mutations were found to be mutually exclusive and we observed recurrent mutations in NRAS, IDH2, APC and ATM. CDKN2A deletions were detected in 27.3% of the cases followed by deletions of RB1 (9.1%), PTEN and TP53 (3% each). The mutual exclusive distribution of some mutations may point to different subgroups of BPDCN whose biological significance remains to be explored.
MetadatenAuthor: | Albrecht StenzingerORCiDGND, Volker Endris, Nicole Pfarr, Mindaugas Andrulis, Korinna Jöhrens, Frederick Klauschen, Udo Siebolts, Thomas Wolf, Philipp-Sebastian Koch, Miriam Schulz, Wolfgang Hartschuh, Sergij Goerdt, Jochen K. Lennerz, Claudia Wickenhauser, Wolfram KlapperORCiDGND, Ioannis Anagnostopoulos, Wilko WeichertGND |
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URN: | urn:nbn:de:hebis:30:3-355487 |
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URL: | http://www.impactjournals.com/oncotarget/misc/linkedout.php?pii=2223 |
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DOI: | https://doi.org/10.18632/oncotarget.2223 |
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ISSN: | 1949-2553 |
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Pubmed Id: | https://pubmed.ncbi.nlm.nih.gov/25115387 |
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Parent Title (English): | Oncotarget |
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Publisher: | Impact Journals LLC |
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Place of publication: | [S.l.] |
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Document Type: | Article |
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Language: | English |
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Date of Publication (online): | 2014/07/16 |
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Date of first Publication: | 2014/07/16 |
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Publishing Institution: | Universitätsbibliothek Johann Christian Senckenberg |
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Release Date: | 2014/11/22 |
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Tag: | ATM; BPDCN; CDKN2A; KRAS; NRAS; blastic plasmacytoid dendritic cell neoplasm; mutually exclusive mutations; next generation sequencing; recurrent mutations |
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Volume: | 5 |
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Issue: | 15 |
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Page Number: | 10 |
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First Page: | 6404 |
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Last Page: | 6413 |
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Note: | This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
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HeBIS-PPN: | 366860739 |
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Institutes: | Medizin / Medizin |
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Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
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Sammlungen: | Universitätspublikationen |
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Licence (German): | Creative Commons - Namensnennung 3.0 |
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