TY  - JOUR
AU  - Bleeke, Matthias
AU  - Johann, Pascal
AU  - Gröbner, Susanne
AU  - Alten, Julia
AU  - Cario, Gunnar
AU  - Schäfer, Hansjörg
AU  - Klapper, Wolfram
AU  - Khoury, Joseph
AU  - Pfister, Stefan
AU  - Müller, Ingo
TI  - Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients.
JO  - Pediatric blood & cancer
VL  - 67
IS  - 2
SN  - 1545-5009
CY  - New York, NY
PB  - Wiley
M1  - DKFZ-2019-02645
SP  - e28074
PY  - 2020
N1  - 2020 Feb;67(2):e28074
AB  - Pediatric histiocytic sarcoma (HS) clonally related to anteceding leukemia is a rare malignancy with poor outcome. We performed a molecular characterization of HS and the corresponding leukemia by methylation arrays and whole-exome sequencing and found a variety of aberrations in both entities with deletions of CDKN2A/B as a recurrent finding. Furthermore, data from genome-wide mutation analysis from one patient allowed the reconstruction of a sequence of tumorigenesis of leukemia and HS lesions including the acquisition of a putatively activating KRAS frameshift deletion (p.A66fs). Our results provide an insight into the genetic landscape of pediatric HS clonally related to anteceding leukemia.
LB  - PUB:(DE-HGF)16
C6  - pmid:31737984
DO  - DOI:10.1002/pbc.28074
UR  - https://inrepo02.dkfz.de/record/147654
ER  -