Satu Mustjoki - Publications#
Citations: 9939. H-index: 49.
10 selected publications with journal impact factor (IF) and citations (Web-of-Science):
1. Koskela HL*, Eldfors S*, Ellonen P, van Adrichem AJ, Kuusanmäki H, Andersson EI, Lagström S, Clemente MJ, Olson T, Jalkanen SE, Majumder MM, Almusa H, Edgren H, Lepistö M, Mattila P, Guinta K, Koistinen P, Kuittinen T, Penttinen K, Parsons A, Knowles J, Saarela J, Wennerberg K, Kallioniemi O, Porkka K, Loughran TP Jr, Heckman CA, Maciejewski JP, Mustjoki S. Somatic STAT3 mutations in large granular lymphocytic leukemia. N Engl J Med. 2012;366:1905-13. IF 176.082/citations: 565. Groundbreaking observation demonstrating that 40% of LGL leukemia patients have somatic STAT3 mutations leading to constitutive activation of the JAK-STAT pathway.
2. Savola P*, Kelkka T*, Rajala HL, Kuuliala A, Kuuliala K, Eldfors S, Ellonen P, Lagström S, Lepistö M, Hannunen T, Andersson EI, Khajuria RK, Jaatinen T, Koivuniemi R, Repo H, Saarela J, Porkka K, Leirisalo-Repo M, Mustjoki S. Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis. Nat Commun. 2017;8:15869. IF 17.694/citations: 71. This was the first study to show that somatic mutations occur in normal T cells, and they are more common in patients with rheumatoid arthritis (RA) than age-matched healthy controls.
3. Kim D*, Park G*, Huuhtanen J, Lundgren S, Khajuria RK, Hurtado AM, Muñoz-Calleja C, Cardeñoso L, Gómez-García de Soria V, Chen-Liang TH, Eldfors S, Ellonen P, Hannula S, Kankainen M, Bruck O, Kreutzman A, Salmenniemi U, Lönnberg T, Jerez A, Itälä-Remes M, Myllymäki M, Keränen MAI, Mustjoki S. Somatic mTOR mutation in clonally expanded T lymphocytes associated with chronic graft versus host disease. Nat Commun. 2020;11:2770. IF 17.694/citations: 15. Mustjoki group discovered recurrent somatic mutations in mTOR gene in T cells of patients with chronic graft versus host disease and demonstrated how mutations impact the function of T cells and their drug responses.
4. Dufva O, Koski J, Maliniemi P, Ianevski A, Klievink J, Leitner J, Pölönen P, Hohtari H, Saeed K, Hannunen T, Ellonen P, Steinberger P, Kankainen M, Aittokallio T, Keränen MAI, Korhonen M, Mustjoki S. Integrated drug profiling and CRISPR screening identify essential pathways for CAR T-cell cytotoxicity. Blood. 2020;135(9):597-609. IF 25.669/citations: 109. With the high-throughput drug screen and genome-scale CRISPR screening, they showed that death receptor signaling is an essential mechanism for CAR T-cell cytotoxicity and it can be modulated by SMAC mimetics. Plenary paper.
5. Dufva O*, Pölönen P*, Brück O, Keränen MAI, Klievink J, Mehtonen J, Huuhtanen J, Kumar A, Malani D, Siitonen S, Kankainen M, Ghimire B, Lahtela J, Mattila P, Vähä-Koskela M, Wennerberg K, Granberg K, Leivonen SK, Meriranta L, Heckman C, Leppä S, Nykter M, Lohi O, Heinäniemi M*, Mustjoki S*. Immunogenomic Landscape of Hematological Malignancies. Cancer Cell. 2020;38(3):380-99.e13. IF 38.585/citations: 80. In this paper >10 000 transcriptome profiles of various hematologic malignancies were integrated and novel therapy targets were discovered. In addition, the study demonstrated how immunological features are linked to cancer subtypes, genetic and epigenetic alterations, and patient survival.
6. Mustjoki S, Young NS. Somatic Mutations in "Benign" Disease. N Engl J Med. 2021;384(21):2039-2052. IF 176.082/citations: 87. In this review article, the impact of somatic mutations in non-malignant diseases is discussed. This is an exciting new area of research, to which Mustjoki group has significantly contributed with recent publications.
7. Huuhtanen J, Chen L, Jokinen E, Kasanen H, Lönnberg T, Kreutzman A, Peltola K, Hernberg M, Wang C, Yee C, Lähdesmäki H, Davis MM, Mustjoki S. Evolution and modulation of antigen-specific T cell responses in melanoma patients. Nat Commun. 2022;13(1):5988. IF 17.694/citations: 4. Over 10 million T cell receptors from 515 patients with primary or metastatic melanoma were analysed and compared to 783 healthy controls. With this data an artificial intelligence model was built to recognise anti-melanoma T cells.
\ 8. Huuhtanen J, Kasanen H, Peltola K, Lönnberg T, Glumoff V, Brück O, Dufva O, Peltonen K, Vikkula J, Jokinen E, Ilander M, Lee MH, Mäkelä S, Nyakas M, Li B, Hernberg M, Bono P, Lähdesmäki H, Kreutzman A, Mustjoki S. Single-cell characterization of anti-LAG-3 and anti-PD-1 combination treatment in patients with melanoma. J Clin Invest. 2023;133(6). IF 19.477/citations: 10. Mustjoki group evaluated blood samples from patients with metastatic melanoma treated with anti–LAG-3+anti–PD-1 in a international phase I trial, using single-cell RNA and TCR sequencing, and found biomarkers for response.
9. Kuusanmäki H, Dufva O, Vähä-Koskela M, Leppä AM, Huuhtanen J, Vänttinen I, Nygren P, Klievink J, Bouhlal J, Pölönen P, Zhang Q, Adnan-Awad S, Mancebo-Pérez C, Saad J, Miettinen J, Javarappa KK, Aakko S, Ruokoranta T, Eldfors S, Heinäniemi M, Theilgaard-Mönch K, Wartiovaara-Kautto U, Keränen M, Porkka K, Konopleva M, Wennerberg K, Kontro M, Heckman CA, Mustjoki S. Erythroid/megakaryocytic differentiation confers BCL-XL dependency and venetoclax resistance in acute myeloid leukemia. Blood. 2023;141(13):1610-25. IF: 25.669/citations: 9. Here, it was discovered that erythroid/megakaryocytic AML is highly sensitive for BCL-XL inhibition, which provides a novel treatment option for patients with very poor prognosis.
10. Dufva O*, Gandolfi S*, Dufva O, Gandolfi S, Huuhtanen J, Dashevsky O, Duàn H, Saeed K, Klievink J, Nygren P, Bouhlal J, Lahtela J, Näätänen A, Ghimire BR, Hannunen T, Ellonen P, Lähteenmäki H, Rumm P, Theodoropoulos J, Laajala E, Härkönen J, Pölönen P, Heinäniemi M, Hollmén M, Yamano S, Shirasaki R, Barbie DA, Roth JA, Romee R, Sheffer M, Lähdesmäki H, Lee DA, De Matos Simoes R, Kankainen M, Mitsiades CS, Mustjoki S. Single-cell functional genomics reveals determinants of sensitivity and resistance to natural killer cells in blood cancers. Immunity. 2023; 56(12):2816-35.e13. IF 43.474. Mustjoki group together with Mitsiades group from Harvard university investigated the interaction of NK and blood cancer cells using single-cell and genome-scale functional genomics screens and showed that different types of cancers induce distinct activation states in NK cells, reflecting different levels of sensitivity. Novel mechanisms for NK cell killing were discovered with genome wide CRISPR screening and CROP sequencing.
