Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm

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Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm

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Title: Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm
Author: Stenzinger, Albrecht; Endris, Volker; Pfarr, Nicole; Andrulis, Mindaugas; Jöhrens, Korinna; Klauschen, Frederick; Siebolts, Udo; Wolf, Thomas; Koch, Philipp-Sebastian; Schulz, Miriam; Hartschuh, Wolfgang; Goerdt, Sergij; Lennerz, Jochen K.; Wickenhauser, Claudia; Klapper, Wolfram; Anagnostopoulos, Ioannis; Weichert, Wilko

Note: Order does not necessarily reflect citation order of authors.

Citation: Stenzinger, A., V. Endris, N. Pfarr, M. Andrulis, K. Jöhrens, F. Klauschen, U. Siebolts, et al. 2014. “Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm.” Oncotarget 5 (15): 6404-6413.
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Abstract: 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.
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4171639/pdf/
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Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:12987352
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