@article{oai:soar-ir.repo.nii.ac.jp:00020852,
 author = {Dufva, Olli and Kankainen, Matti and Kelkka, Tiina and Sekiguchi, Nodoka and Awad, Shady Adnan and Eldfors, Samuli and Yadav, Bhagwan and Kuusanmaki, Heikki and Malani, Disha and Andersson, Emma I. and Pietarinen, Paavo and Saikko, Leena and Kovanen, Panu E. and Ojala, Teija and Lee, Dean A. and Loughran, Thomas P.  Jr. and Nakazawa, Hideyuki and Suzumiya, Junji and Suzuki, Ritsuro and Ko, Young Hyeh and Kim, Won Seog and Chuang, Shih-Sung and Aittokallio, Tero and Chan, Wing C. and Ohshima, Koichi and Ishida, Fumihiro and Mustjoki, Satu},
 journal = {NATURE COMMUNICATIONS},
 month = {Apr},
 note = {Aggressive natural killer-cell (NK-cell) leukemia (ANKL) is an extremely aggressive malignancy with dismal prognosis and lack of targeted therapies. Here, we elucidate the molecular pathogenesis of ANKL using a combination of genomic and drug sensitivity profiling. We study 14 ANKL patients using whole-exome sequencing (WES) and identify mutations in STAT3 (21%) and RAS-MAPK pathway genes (21%) as well as in DDX3X (29%) and epigenetic modifiers (50%). Additional alterations include JAK-STAT copy gains and tyrosine phosphatase mutations, which we show recurrent also in extranodal NK/T-cell lymphoma, nasal type (NKTCL) through integration of public genomic data. Drug sensitivity profiling further demonstrates the role of the JAK-STAT pathway in the pathogenesis of NK-cell malignancies, identifying NK cells to be highly sensitive to JAK and BCL2 inhibition compared to other hematopoietic cell lineages. Our results provide insight into ANKL genetics and a framework for application of targeted therapies in NK-cell malignancies., Article, NATURE COMMUNICATIONS.9:1567(2018)},
 title = {Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target},
 volume = {9},
 year = {2018}
}