Hoermann G, Sotlar K, Jawhar M, Kristensen T, Bachelot G, Nedoszytko B, et al. Standards of genetic testing in the diagnosis and prognostication of systemic mastocytosis in 2022: recommendations of the EU-US cooperative group. J Allergy Clin Immunology: Pract. 2022;10:1953–63.
Valent P, Akin C, Sperr WR, Horny H-P, Arock M, Metcalfe DD, et al. New insights into the pathogenesis of mastocytosis: emerging concepts in diagnosis and therapy. Annu Rev Pathol Mech Dis. 2023;18:361–86.
Akin C, Arock M, Carter MC, George TI, Valent P. Mastocytosis. Nat Rev Dis Primers. 2025;11:30.
Gotlib J, Kluin-Nelemans HC, George TI, Akin C, Sotlar K, Hermine O, et al. Efficacy and safety of midostaurin in advanced systemic mastocytosis. N Engl J Med. 2016;374:2530–41.
Gotlib J, Reiter A, Radia DH, Deininger MW, George TI, Panse J, et al. Efficacy and safety of avapritinib in advanced systemic mastocytosis: interim analysis of the phase 2 PATHFINDER trial. Nat Med. 2021;27:2192–9.
DeAngelo DJ, Radia DH, George TI, Robinson WA, Quiery AT, Drummond MW, et al. Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial. Nat Med. 2021;27:2183–91.
Reiter A, Schwaab J, DeAngelo DJ, Gotlib JR, Deininger MW, Pettit KM, et al. Efficacy and safety of avapritinib in previously treated patients with advanced systemic mastocytosis. Blood Adv. 2022;6:5750–62.
Reiter A, Gotlib J, Álvarez-Twose I, Radia DH, Lübke J, Bobbili PJ, et al. Efficacy of avapritinib versus best available therapy in the treatment of advanced systemic mastocytosis. Leukemia. 2022;36:2108–20.
Valent P, Akin C, Hartmann K, Alvarez-Twose I, Brockow K, Hermine O, et al. Guideline article – consensus based updated diagnostic criteria and classification of mast cell disorders: a consensus proposal. Hemasphere. 2021;5:e646.
Valent P, Akin C, Sperr WR, Escribano L, Arock M, Horny HP, et al. Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria. Leuk Res. 2003;27:635–41.
Lim KH, Tefferi A, Lasho TL, Finke C, Patnaik M, Butterfield JH, et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood. 2009;113:5727–36.
Georgin-Lavialle S, Lhermitte L, Dubreuil P, Chandesris M-OO, Hermine O, Damaj G. Mast cell leukemia. Blood. 2013;121:1285–95.
Valent P, Akin C, Arock M, Gleixner KV, Greinix H, Hermine O, et al. Antibody-based and cell therapies for advanced mastocytosis: established and novel concepts. Int J Mol Sci. 2023;24:15125.
McLornan DP, Czerw T, Damaj G, Ethell M, Gurnari C, Hernández-Boluda JC, et al. Allogeneic haematopoietic cell transplantation for advanced systemic mastocytosis: Best practice recommendations on behalf of the EBMT Practice Harmonisation and Guidelines Committee. Leukemia. 2024;38:699–711.
Ustun C, Gotlib J, Popat U, Artz A, Litzow M, Reiter A, et al. Consensus opinion on allogeneic hematopoietic cell transplantation in advanced systemic mastocytosis. Biol Blood Marrow Transpl. 2016;22:1348–56.
Ustun C, Reiter A, Scott BL, Nakamura R, Damaj G, Kreil S, et al. Hematopoietic stem-cell transplantation for advanced systemic mastocytosis. J Clin Oncol. 2014;32:3264–74.
Valent P, Sperr WR, Akin C. How I treat patients with advanced systemic mastocytosis. Blood. 2010;116:5812–7.
Sriskandarajah P, McLornan DP, Oni C, Wilson AJ, Woodley C, Ciesielska M, et al. Advanced Systemic Mastocytosis with associated haematological neoplasm: Treatment with avapritinib can facilitate successful bridge to allogeneic haematopoietic cell transplant. Curr Res Transl Med. 2023;71:103398.
Lübke J, Christen D, Schwaab J, Kaiser A, Naumann N, Shoumariyeh K, et al. Allogeneic hematopoietic cell transplantation in advanced systemic mastocytosis: a retrospective analysis of the DRST and GREM registries. Leukemia. 2024;38:810–21.
Brudno JN, Maus MV, Hinrichs CS. CAR T cells and T-cell therapies for cancer: a translational science review. JAMA. 2024;332:1924.
June CH, O’connor RS, Kawalekar OU, Ghassemi S, Milone MC. CAR T cell immunotherapy for human cancer. Science (1979) 2018;359:1361–65.
Neelapu SS, Locke FL, Bartlett NL, Lekakis LJ, Miklos DB, Jacobson CA, et al. Axicabtagene ciloleucel CAR T-cell therapy in refractory large B-cell lymphoma. N Engl J Med. 2017;377:2531–44.
Berdeja JG, Madduri D, Usmani SZ, Jakubowiak A, Agha M, Cohen AD, et al. Ciltacabtagene autoleucel, a B-cell maturation antigen-directed chimeric antigen receptor T-cell therapy in patients with relapsed or refractory multiple myeloma (CARTITUDE-1): a phase 1b/2 open-label study. Lancet. 2021;398:314–24.
Loff S, Dietrich J, Meyer JE, Riewaldt J, Spehr J, von Bonin M, et al. Rapidly switchable universal CAR-T cells for treatment of CD123-positive leukemia. Mol Ther Oncolytics. 2020;17:408–20.
Xue T, Del Real M, Marcucci E, Toribio C, Setayesh SM, Forman SJ, et al. Checkpoint blockade in combination with CD33 chimeric antigen receptor T cell therapy and hypomethylating agent against acute myeloid leukemia. Blood. 2019;134:1383.
Magnani CF, Myburgh R, Brunn S, Chambovey M, Ponzo M, Volta L, et al. Anti-CD117 CAR T cells incorporating a safety switch eradicate human acute myeloid leukemia and hematopoietic stem cells. Mol Ther Oncolytics. 2023;30:56–71.
Myburgh R, Kiefer JD, Russkamp NF, Magnani CF, Nuñez N, Simonis A, et al. Anti-human CD117 CAR T-cells efficiently eliminate healthy and malignant CD117-expressing hematopoietic cells. Leukemia. 2020;34:2688–703.
Volta L, Myburgh R, Hofstetter M, Koch C, Kiefer JD, Gobbi C, et al. A single-chain variable fragment-based bispecific T-cell activating antibody against CD117 enables T-cell mediated lysis of acute myeloid leukemia and hematopoietic stem and progenitor cells. HemaSphere. 2024;8:e70055.
Hoermann G, Blatt K, Greiner G, Putz EM, Berger A, Herrmann H, et al. CD52 is a molecular target in advanced systemic mastocytosis. FASEB J. 2014;28:3540–51.
Kirshenbaum AS, Yin Y, Bruce Sundstrom J, Bandara G, Metcalfe DD Description and characterization of a novel human mast cell line for scientific study. Int J Mol Sci 2019;20:5520.
Butterfield JH, Weiler D, Dewald G, Gleich GJ. Establishment of an immature mast cell line from a patient with mast cell leukemia. Leuk Res. 1988;12:345–55.
Saleh R, Wedeh G, Herrmann H, Bibi S, Cerny-Reiterer S, Sadovnik I, et al. A new human mast cell line expressing a functional IgE receptor converts to tumorigenic growth by KIT D816V transfection. Blood. 2014;124:111–20.
Toledo AMAS, Gatz M, Sontag S, Karoline V, Rossetti G, Sechi AS, et al. Nintedanib targets KIT D816V neoplastic cells derived from induced pluripotent stem cells of systemic mastocytosis. Blood. 2021;137:2070–84.
de Toledo MAS, Fu X, Maié T, Buhl EM, Götz K, Schmitz S, et al. KIT D816V mast cells derived from induced pluripotent stem cells recapitulate systemic mastocytosis transcriptional profile. Int J Mol Sci. 2023;24:5275.
Rongvaux A, Willinger T, Martinek J, Strowig T, Gearty SV, Teichmann LL, et al. Development and function of human innate immune cells in a humanized mouse model. Nat Biotechnol. 2014;32:364–72.
Theocharides APAA, Rongvaux A, Fritsch K, Flavell RA, Manz MG. Humanized hemato-lymphoid system mice. Haematologica. 2016;101:5–19.
Ellegast JM, Rauch PJ, Kovtonyuk LV, Müller R, Wagner U, Saito Y, et al. inv(16) and NPM1mut AMLs engraft human cytokine knock-in mice. Blood. 2016;128:2130–4.
Teodosio C, Mayado A, Sánchez-Muñoz L, Morgado JM, Jara-Acevedo M, Ivan´ Ivan´alvarez-Twose I, et al. The immunophenotype of mast cells and its utility in the diagnostic work-up of systemic mastocytosis. J Leukoc Biol. 2015;97:49–59.
Bonifant CL, Szoor A, Torres D, Joseph N, Velasquez MP, Iwahori K, et al. CD123-engager T cells as a novel immunotherapeutic for acute myeloid leukemia. Mol Ther. 2016;24:1615–26.
Boucher JC, Shrestha B, Vishwasrao P, Leick M, Cervantes EV, Ghafoor T, et al. Bispecific CD33/CD123 targeted chimeric antigen receptor T cells for the treatment of acute myeloid leukemia. Mol Ther Oncolytics. 2023;31:100751.
Volta L, Myburgh R, Pellegrino C, Koch C, Maurer M, Manfredi F, et al. Efficient combinatorial adaptor-mediated targeting of acute myeloid leukemia with CAR T-cells. Leukemia. 2024;38:2598–613.
Bibi S, Zhang Y, Hugonin C, Mangean MD, He L, Wedeh G, et al. A new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase. Oncotarget. 2016;7:82985–83000.
Eisenwort G, Sadovnik I, Schwaab J, Jawhar M, Keller A, Stefanzl G, et al. Identification of a leukemia-initiating stem cell in human mast cell leukemia. Leukemia. 2019;33:2673–84.
Blatt K, Cerny-Reiterer S, Schwaab J, Sotlar K, Eisenwort G, Stefanzl G, et al. Identification of the Ki-1 antigen (CD30) as a novel therapeutic target in systemic mastocytosis Key Points. Blood. 2015;126:2832–41.
Lysenko V, Van Wijk NWV, Zimmermann K, Weller MC, Bühler M, Wildschut MHE, et al. Enhanced engraftment of human myelofibrosis stem and progenitor cells in MISTRG mice. Blood Adv. 2020;4:2477–88.
Song Y, Rongvaux A, Taylor A, Jiang T, Tebaldi T, Balasubramanian K, et al. A highly efficient and faithful MDS patient-derived xenotransplantation model for pre-clinical studies. Nat Commun. 2019;10:366.
Yu H, Borsotti C, Schickel J-N, Zhu S, Strowig T, Eynon EE, et al. A novel humanized mouse model with significant improvement of class-switched, antigen-specific antibody production Key Points. Blood. 2017;129:959–69.
Desai A, Jung MY, Olivera A, Gilfillan AM, Prussin C, Kirshenbaum AS, et al. IL-6 promotes an increase in human mast cell numbers and reactivity through suppression of suppressor of cytokine signaling 3. J Allergy Clin Immunol. 2016;137:1863–1871.e6.
Metcalfe DD, Baram D, Mekori YA. Mast cells. Physiol Rev. 1997;77:1033–79.
da Silva EZM, Jamur MC, Oliver C. Mast cell function: a new vision of an old cell. J Histochem Cytochem. 2014;62:698–738.
Broesby-Olsen S, Vestergaard H, Mortz CG, Jensen B, Havelund T, Hermann AP, et al. Omalizumab prevents anaphylaxis and improves symptoms in systemic mastocytosis: Efficacy and safety observations. Allergy. 2018;73:230–8.
Krauth MT, Böhm A, Agis H, Sonneck K, Samorapoompichit P, Florian S, et al. Effects of the CD33-targeted drug gemtuzumab ozogamicin (Mylotarg) on growth and mediator secretion in human mast cells and blood basophils. Exp Hematol. 2007;35:108–16.
Alvarez-Twose I, Martínez-Barranco P, Gotlib J, García-Montero A, Morgado JM, Jara-Acevedo M, et al. Complete response to gemtuzumab ozogamicin in a patient with refractory mast cell leukemia. Leukemia. 2016;30:1753–6.
Gotlib J, Baird JH, George TI, Langford C, Reyes I, Abuel J, et al. A phase 2 study of brentuximab vedotin in patients with CD30-positive advanced systemic mastocytosis. Blood Adv. 2019;3:2264–71.
Russkamp NF, Myburgh R, Kiefer JD, Neri D, Manz MG. Anti-CD117 immunotherapy to eliminate hematopoietic and leukemia stem cells. Exp Hematol. 2021;95:31–45.
Manz MG, Russkamp NF. Selective CD117 + HSC exchange therapy. Blood. 2019;133:2007–9.
Pang WW, Czechowicz A, Logan AC, Bhardwaj R, Poyser J, Park CY, et al. Anti-CD117 antibody depletes normal and myelodysplastic syndrome human hematopoietic stem cells in xenografted mice. Blood. 2019;133:2069–78.
Agarwal R, Bertaina A, Soco C, Long-Boyle JR, Saini G, Kunte N, et al. Irradiation- and busulfan-free stem cell transplantation in Fanconi anemia using an anti-CD117 antibody: a phase 1b trial. Nat Med. 2025;31:3183–90.
Thomas R, Ritchey JK, DiPersio JF, Kim MY. Targeting CD117 on hematopoietic stem and progenitor cells impairs CAR T cell activity. Mol Ther. 2025;33:4584–99.


















Leave a Reply