Publications

Selected publications.
Tumor Immunology

  1. Huuhtanen J, Adnan-Awad S, Theodoropoulos J, Forstén S, Warfvinge R, Dufva O, Bouhlal J, Dhapola P, Duàn H, Laajala E, Kasanen T, Klievink J, Ilander M, Jaatinen T, Olsson-Strömberg U, Hjorth-Hansen H, Burchert A, Karlsson G, Kreutzman A, Lähdesmäki H, Mustjoki S. Leukemia. 2024 Jan;38(1):109-125. 

     

  2. 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. Immunity. 2023 Dec 12;56(12):2816-2835.e13.

     

  3. Lee MH, Theodoropoulos J, Huuhtanen J, Bhattacharya D, Järvinen P, Tornberg S, Nísen H, Mirtti T, Uski I, Kumari A, Peltonen K, Draghi A, Donia M, Kreutzman A, Mustjoki S. Cancer Res Commun. 2023 Jul 18;3(7):1260-1276. 

     

  4. 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. Nat Commun. 2022 Oct 11;13(1):5988. 

     

  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. . Cancer Cell. 2020;38(3):380-99.e13.
    - Exploration of large-scale genomic datasets links immune regulation with cancer subtypes and genomics across hematological malignancies

     

  6. Dufva O, Koski J, Maliniemi P, Ianevski A, Klievink J, Leitner J, Polonen P, Hohtari H, Saeed K, Hannunen T, Ellonen P, Steinberger P, Kankainen M, Aittokallio T, Keranen MAI, Korhonen M, Mustjoki S. . Blood. 2020;135(9):597-609.

     

  7. Hohtari, H., Brück, O., Blom, S. et al. . Leukemia. 2019;33:1570–1582.
    - Characterization of immune cell contexture in adult ALL bone marrow microenvironment. High proportion of CD4+PD1+TIM3+ T cells predicted poor survival.

     

  8. Brück O, Blom S, Dufva O, Turkki R, Chheda H, Ribeiro A, Kovanen P, Aittokallio T, Koskenvesa P, Kallioniemi O, Porkka K, Pellinen T, Mustjoki S. . Leukemia. 2018 Jun 20.
    – The immune landscape in CML bone marrow is immunosuppressed at diagnosis and can be partially reset with TKI treatment. Immune profiles can be used to predict treatment responses.

     

  9. Hekim C*, Ilander M*, Yan J, Michaud E, Smykla R, Vähä-Koskela M, Savola P, Tähtinen S, Saikko L, Hemminki A, Kovanen PE, Porkka K, Lee FY, Mustjoki S. . Cancer Immunol Res. 2017 Feb;5(2):157-169.
    *Equal contribution
    – Discovery of beneficial immunomodulatory effects of dasatinib in murine solid tumor models.

     

  10. Mustjoki S, Auvinen K*, Kreutzman A*, Rousselot P, Hernesniemi S, Melo T, Lahesmaa-Korpinen AM, Hautaniemi S, Bouchet S, Molimard M, Smykla R, Lee FY, Vakkila J, Jalkanen S, Salmi M, Porkka K. Leukemia. 2013 Apr;27(4):914-24.
    *Equal contribution
    – Description of rapid mobilization of lymphocytes after dasatinib intake.

     

  11. Kreutzman A, Juvonen V, Kairisto V, Ekblom M, Stenke L, Seggewiss R, Porkka K, Mustjoki S. Blood. 2010;116:772-82.
    – Discovery of clonal LGL expansion as an off-target effect of targeted leukemia therapy.

     

  12. Mustjoki S, Ekblom M, Arstila TP, Dybedal I, Epling-Burnette PK, Guilhot F, Hjorth-Hansen H, Hoglund M, Kovanen P, Laurinolli T, Liesveld J, Paquette R, Pinilla-Ibarz J, Rauhala A, Shah N, Simonsson B, Sinisalo M, Steegmann JL, Stenke L, Porkka K. Leukemia. 2009;23:1398-405.
    – Discovery of clonal LGL expansion as an off-target effect of targeted leukemia therapy.
Somatic mutations in inflammation

  1. Lundgren S, Myllymäki M, Järvinen T, Keränen MAI, Theodoropoulos J, Smolander J, Kim D, Salmenniemi U, Walldin G, Savola P, Kelkka T, Rajala H, Hellström-Lindberg E, Itälä-Remes M, Kankainen M, Mustjoki S. . Sci Adv. 2024 Jun 7;10(23):eadj0787.

     

  2. Huuhtanen J, Bhattacharya D, Lönnberg T, Kankainen M, Kerr C, Theodoropoulos J, Rajala H, Gurnari C, Kasanen T, Braun T, Teramo A, Zambello R, Herling M, Ishida F, Kawakami T, Salmi M, Loughran T, Maciejewski JP, Lähdesmäki H, Kelkka T, Mustjoki S. Nat Commun. 2022 Apr 11;13(1):1981.

     

  3. Bhattacharya D, Teramo A, Gasparini VR, Huuhtanen J, Kim D, Theodoropoulos J, Schiavoni G, Barilà G, Vicenzetto C, Calabretto G, Facco M, Kawakami T, Nakazawa H, Falini B, Tiacci E, Ishida F, Semenzato G, Kelkka T, Zambello R, Mustjoki S. Blood Cancer J. 2022 Feb 24;12(2):31.

     

  4. Mustjoki S, Young NS. . N Engl J Med. 2021 May 27;384(21):2039-2052

     

  5. Lundgren S, Keränen MAI, Kankainen M, Huuhtanen J, Walldin G, Kerr CM, Clemente M, Ebeling F, Rajala H, Brück O, Lähdesmäki H, Hannula S, Hannunen T, Ellonen P, Young NS, Ogawa S, Maciejewski JP, Hellström-Lindberg E, Mustjoki S. . Leukemia. 2021 May;35(5):1365-1379.
    - Somatic mutations in in expanded T cell clones were discovered in patients with immune-mediated aplastic anemia. T cells with somatic mutations on JAK-STAT and MAPK pathway genes were characterized by single-cell transcriptomics.

     

  6. Kim D, Park G, Huuhtanen J, Ghimire B, Rajala H, Moriggl R, Chan WC, Kankainen M, Myllymäki M, Mustjoki S. . Leukemia. 2021 Dec;35(12):3430-3443.
    - Investigation of functional effect of somatic STAT3 mutations in T-cell LGL leukemia.

     

  7. 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. Nat Commun. 2020;11:2770.
    - Discovery of novel somatic gain-of-function mTOR mutation in a patient with chronic graft versus host disease.

     

  8. Savola P, Martelius T, Kankainen M, Huuhtanen J, Lundgren S, Koski Y, Eldfors S, Kelkka T, Keranen MAI, Ellonen P, Kovanen PE, Kytola S, Saarela J, Lahdesmaki H, Seppanen MRJ, Mustjoki S. Haematologica. 2019;105(12):2757-2768.

     

  9. 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. Nat Commun. 2017 Jun;21(8):15869.
    *Equal contribution
    – Discovery of novel somatic mutations in RA patients’ circulating cytotoxic lymphocytes.

     

  10. Andersson EI*, Tanahashi T*, Sekiguchi N, Gasparini VR, Bortoluzzi S, Kawakami T, Matsuda K, Mitsui T, Eldfors S, Bortoluzzi S, Coppe A, Binatti A, Lagström S, Ellonen P, Fukushima N, Nishina S, Senoo N, Sakai H, Nakazawa H, Kwong YL, Loughran TP, Maciejewski JP, Mustjoki S, Ishida F. . Blood. 2016 Nov 17;128(20):2465-2468.
    *Equal contribution
    – Identification of STAT5b mutations as a typical feature of CD4+ LGL leukemia.

     

  11. Haapaniemi EM, Kaustio M, Rajala HL, van Adrichem AJ, Kainulainen L, Glumoff V, Doffinger R, Kuusanmaki H, Heiskanen-Kosma T, Trotta L, Chiang S, Kulmala P, Eldfors S, Katainen R, Siitonen S, Karjalainen-Lindsberg ML, Kovanen PE, Otonkoski T, Porkka K, Heiskanen K, Hanninen A, Bryceson YT, Uusitalo-Seppala R, Saarela J, Seppanen M, Mustjoki S, Kere J. Blood. 125, 639-648, 2015.
    – Discovery of clonal LGL expansion as an off-target effect of targeted leukemia therapy.

     

  12. Flanagan SE*, Haapaniemi E*, Russell MA*, Caswell R, Lango Allen H, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppanen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S & Hattersley AT. Nature Gen. 2014, 46, 812-814.
    *Equal contribution
    – Discovery of clonal T- and NK-cells in untreated leukemia patients.

     

  13. Jerez A, Clemente MJ, Makishima H, Rajala H, Gomez-Segui I, Olson T, McGraw K, Przychodzen B, Kulasekararaj A, Afable M, Husseinzadeh HD, Hosono N, LeBlanc F, Lagstrom S, Zhang D, Ellonen P, Tichelli A, Nissen C, Lichtin AE, Wodnar-Filipowicz A, Mufti GJ, List AF, Mustjoki S, Loughran TP, Jr., Maciejewski JP. . Blood. 2013 Oct 3;122(14):2453-9.
    – Discovery of somatic mutations in patients with AA and MDS.

     

  14. Rajala HL, Eldfors S*, Kuusanmaki H*, van Adrichem AJ, Olson T, Lagstrom S, Andersson EI, Jerez A, Clemente MJ, Yan Y, Zhang D, Awwad A, Ellonen P, Kallioniemi O, Wennerberg K, Porkka K, Maciejewski JP, Loughran TP, Jr., Heckman C, Mustjoki S. . Blood. 2013 Apr 17.
    *Equal contribution
    – This was the first time to discover somatic mutations in STAT5 gene. The mutation type also correlated with clinical disease phenotype.

     

  15. Koskela HL*, Eldfors S*, Ellonen P, van Adrichem AJ, Kuusanmaki H, Andersson EI, Lagstrom S, Clemente MJ, Olson T, Jalkanen SE, Majumder MM, Almusa H, Edgren H, Lepisto 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. N Engl J Med. 2012;366:1905-13.
    *Equal contribution
    – Groundbreaking observation demonstrating that LGL leukemia is caused by activating STAT3 mutations.
Drug screening and personalized medicine

  1. von Jan J*, Timonen S*, Braun T*, Jiang Q, Ianevski A, Peng Y, McConnell K, Sindaco P, Müller TA, Pützer S, Klepzig H, Jungherz D, Dechow A, Wahnschaffe L, Giri AK, Kankainen M, Kuusanmäki H, Neubauer HA PhD, Moriggl RH, Mazzeo P, Schmidt N, Koch R, Hallek MJ, Chebel A, Armisen D, Genestier L, Bachy E, Mishra A, Schrader A, Aittokallio T*, Mustjoki S*, Herling M*. . Blood. 2024 Jun 28:blood.2023022884. *Equal contribution

     

  2. Adnan Awad S, Dufva O, Klievink J, Karjalainen E, Ianevski A, Pietarinen P, Kim D, Potdar S, Wolf M, Lotfi K, Aittokallio T, Wennerberg K, Porkka K, Mustjoki S. Cell Rep Med. 2024 May 21;5(5):101521.

     

  3. 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. . Blood. 2023 Mar 30;141(13):1610-1625.

     

  4. Kelkka T, Tyster M, Lundgren S, Feng X, Kerr C, Hosokawa K, Huuhtanen J, Keränen M, Patel B, Kawakami T, Maeda Y, Nieminen O, Kasanen T, Aronen P, Yadav B, Rajala H, Nakazawa H, Jaatinen T, Hellström-Lindberg E, Ogawa S, Ishida F, Nishikawa H, Nakao S, Maciejewski J, Young NS, Mustjoki S. Leukemia. 2022 Sep;36(9):2317-2327.

     

  5. Malani D, Kumar A, Bruck O, Kontro M, Yadav B, Hellesoy M, Kuusanmaki H, Dufva O, Kankainen M, Eldfors S, Potdar S, Saarela J, Turunen L, Parsons A, Vastrik I, Kivinen K, Saarela J, Raty R, Lehto M, Wolf M, Gjertsen BT, Mustjoki S, Aittokallio T, Wennerberg K, Heckman CA, Kallioniemi O, Porkka K. Cancer Discov. 2021 Nov 17:candisc.0410.2021.

     

  6. Adnan-Awad S, Kim D, Hohtari H, Javarappa KK, Brandstoetter T, Mayer I, Potdar S, Heckman CA, Kytölä S, Porkka K, Doma E, Sexl V, Kankainen M, Mustjoki S. . Leukemia. 2021 Jul;35(7):1964-1975.

     

  7. Adnan Awad S, Dufva O, Ianevski, A, Ghimire B, Koski J, Maliniemi P, Thomson D, Schreiber A, Heckman CA, Koskenvesa P, Korhonen M, Porkka K, Branford S, Aittokallio T, Kankainen M, Mustjoki S. Leukemia 2021;35:1087–1099.

     

  8. Brück OE, Lallukka-Brück SE, Hohtari HR, Ianevski A, Ebeling FT, Kovanen PE, Kytölä SI, Aittokallio TA, Ramos PM, Porkka KV, Mustjoki SM. Blood Cancer Discov. 2021 Mar 22;2(3):238-249
    - Morphologic features found in the bone marrow of MDS and MDS/MPN patients are associated with genetic and cytogenetic alterations, prognosis and patient demographics.

     

  9. Dufva O, Kankainen M, Kelkka T, Sekiguchi N, Awad SA, Eldfors S, Yadav B, Kuusanmäki H, Malani D, Andersson EI, Pietarinen P, Saikko L, Kovanen PE, Ojala T, Lee DA, Loughran TP Jr, Nakazawa H, Suzumiya J, Suzuki R, Ko YH, Kim WS, Chuang SS, Aittokallio T, Chan WC, Ohshima K, Ishida F, Mustjoki S. Nat Commun. 2018 Apr 19;9(1):1567.
    – JAK-STAT signaling importantly contributes to the pathogenesis of the extremely aggressive natural killer cell leukemia.

     

  10. Andersson EI, Pützer S, Yadav B, Dufva O, Khan S, He L, Sellner L, Schrader A, Crispatzu G, Oleś M, Zhang H, Adnan-Awad S, Lagström S, Bellanger D, Mpindi JP, Eldfors S, Pemovska T, Pietarinen P, Lauhio A, Tomska K, Cuesta-Mateos C, Faber E, Koschmieder S, Brümmendorf TH, Kytölä S, Savolainen ER, Siitonen T, Ellonen P, Kallioniemi O, Wennerberg K, Ding W, Stern MH, Huber W, Anders S, Tang J, Aittokallio T, Zenz T, Herling M, Mustjoki S. . Leukemia. 2017 Aug 14. doi: 10.1038.
    – Novel drug candidates and genetic characterization of a rare lymphocytic leukemia.

     

  11. Pemovska T*, Kontro M*, Yadav B, Edgren H, Eldfors S, Bespalov M, Ellonen P, Elonen E, Karjalainen R, Kulesskiy E, Lehto A, Lundán T, Majumder M.M, Mattila P, Murumägi A, Mustjoki S, Parsons A, Pirttinen T, Rämet M.E, Turunen L, Knowles J, Aittokallio T*, Heckman C*, Porkka K*, Kallioniemi O*, Wennerberg K*. Cancer Discov. 2013 Dec;3(12):1416-29.
    *Equal contribution
    – Individualized systems medicine for AML.
Related to clinical studies
  1. 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. J Clin Invest. 2023 Mar 15;133(6):e164809.

 

  1. Huuhtanen J, Ilander M, Yadav B, Dufva OM, Lähteenmäki H, Kasanen T, Klievink J, Olsson-Strömberg U, Stentoft J, Richter J, Koskenvesa P, Höglund M, Söderlund S, Dreimane A, Porkka K, Gedde-Dahl T, Gjertsen BT, Stenke L, Myhr-Eriksson K, Markevärn B, Lübking A, Dimitrijevic A, Udby L, Bjerrum OW, Hjorth-Hansen H, Mustjoki S. J Clin Invest. 2022 Sep 1;132(17):e152585. 

     

  2. Kasanen H, Hernberg M, Makela S, Bruck O, Juteau S, Kohtamaki L, Ilander M, Mustjoki S, Kreutzman A. Cancer immunology, immunotherapy: CII. 2020;69(5):717-30.

     

  3. Kreutzman A, Yadav B, Brummendorf TH, Gjertsen BT, Hee Lee M, Janssen J, Kasanen T, Koskenvesa P, Lotfi K, Markevärn B, Olsson-Strömberg U, Stentoft J, Stenke L, Söderlund S, Udby L, Richter J, Hjorth-Hansen H, Mustjoki S. OncoImmunology. 2019;8(9):e1638210.

     

  4. Ilander M, Olsson-Stromberg U, Schlums H, Guilhot J, Bruck O, Lahteenmaki H, Kasanen T, Koskenvesa P, Soderlund S, Hoglund M, Markevarn B, Sjalander A, Lotfi K, Dreimane A, Lubking A, Holm E, Bjoreman M, Lehmann S, Stenke L, Ohm L, Gedde-Dahl T, Majeed W, Ehrencrona H, Koskela S, Saussele S, Mahon FX, Porkka K, Hjorth-Hansen H, Bryceson YT, Richter J, Mustjoki S. Leukemia. 2017;31(5):1108-1116.
    – Discovery of immunological biomarker for successful therapy discontinuation in leukemia patients. Pan-European collaboration in clinical trial.

     

  5. Sopper S, Mustjoki S, White D, Hughes T, Valent P, Burchert A, Gjertsen BT, Gastl G, Baldauf M, Trajanoski Z, Giles F, Hochhaus A, Ernst T, Schenk T, Janssen JJ, Ossenkoppele GJ, Porkka K, Wolf D. J Clin Oncol. 2017;35(2):175-184.
    – Characterization of immunological changes during targeted kinase inhibitor therapy and their correlation with therapy response. Pan-European collaboration in clinical trial.

     

  6. Thielen N, Richter J, Baldauf M, Barbany G, Fioretos T, Giles F, Gjertsen BT, Hochhaus A, Schuurhuis GJ, Sopper S, Stenke L, Thunberg S, Wolf D, Ossenkoppele G, Porkka K, Janssen J, Mustjoki S. . Clin Cancer Res. 2016;22(16):4030-8.
    – Clinical study in CML first-line treatment, which had the experimental analysis of leukemia stem cells as a primary study end-point.

     

  7. Mustjoki S, Richter J, Barbany G, Ehrencrona H, Fioretos T, Gedde-Dahl T, Gjertsen BT, Hovland R, Hernesniemi S, Josefsen D, Koskenvesa P, Dybedal I, Markevarn B, Olofsson T, Olsson-Stromberg U, Rapakko K, Thunberg S, Stenke L, Simonsson B, Porkka K, Hjorth-Hansen H. Leukemia. 2013 Jul;27(7):1520-6.
    – In chronic myeloid leukemia, stem cell count at diagnosis help to predict response to tyrosine kinase inhibitor treatment.