TY  - JOUR
A1  - Stenzinger, Albrecht
A1  - Endris, Volker
A1  - Pfarr, Nicole
A1  - Andrulis, Mindaugas
A1  - Jöhrens, Korinna
A1  - Klauschen, Frederick
A1  - Siebolts, Udo
A1  - Wolf, Thomas
A1  - Koch, Philipp-Sebastian
A1  - Schulz, Miriam
A1  - Hartschuh, Wolfgang
A1  - Goerdt, Sergij
A1  - Lennerz, Jochen K.
A1  - Wickenhauser, Claudia
A1  - Klapper, Wolfram
A1  - Anagnostopoulos, Ioannis
A1  - Weichert, Wilko
T1  - Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm
T2  - Oncotarget
N2  - 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.
KW  - blastic plasmacytoid dendritic cell neoplasm
KW  - BPDCN
KW  - recurrent mutations
KW  - mutually exclusive mutations
KW  - next generation sequencing
KW  - ATM
KW  - KRAS
KW  - NRAS
KW  - CDKN2A
Y1  - 2014
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/35548
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-355487
UR  - http://www.impactjournals.com/oncotarget/misc/linkedout.php?pii=2223
SN  - 1949-2553
N1  - 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.
VL  - 5
IS  - 15
SP  - 6404
EP  - 6413
PB  - Impact Journals LLC
CY  - [S.l.]
ER  -