Filtern
Erscheinungsjahr
- 2014 (1)
Dokumenttyp
Sprache
- Englisch (1)
Volltext vorhanden
- ja (1)
Gehört zur Bibliographie
- nein (1)
Schlagworte
- ATM (1)
- BPDCN (1)
- CDKN2A (1)
- KRAS (1)
- NRAS (1)
- blastic plasmacytoid dendritic cell neoplasm (1)
- mutually exclusive mutations (1)
- next generation sequencing (1)
- recurrent mutations (1)
Institut
- Medizin (1) (entfernen)
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.