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Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Autor: Sahoo S. S., Pastor V. B., Goodings C., Voss R. K., Kozyra E. J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O. P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B. D., Smith O., Haas V. D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P. D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R. D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L. M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M. L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M. R., Sauer M. G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M. H., Meisel R., Schulz A., Cario G., Panda P. K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C. M., Wlodarski M. W.

Publikováno v: Nat Med
Nature Medicine, 27(10), 1806-1817. Nature Publishing Group
Sahoo, S S, Pastor, V B, Goodings, C, Voss, R K, Kozyra, E J, Szvetnik, A, Noellke, P, Dworzak, M, Starý, J, Locatelli, F, Masetti, R, Schmugge, M, De Moerloose, B, Catala, A, Kállay, K, Turkiewicz, D, Hasle, H, Buechner, J, Jahnukainen, K, Ussowicz, M, Polychronopoulou, S, Smith, O P, Fabri, O, Barzilai, S, de Haas, V, Baumann, I, Schwarz-Furlan, S, Niewisch, M R, Sauer, M G, Burkhardt, B, Lang, P, Bader, P, Beier, R, Müller, I, Albert, M H, Meisel, R, Schulz, A, Cario, G, Panda, P K, Wehrle, J, Hirabayashi, S, Derecka, M, Durruthy-Durruthy, R, Göhring, G, Yoshimi-Noellke, A, Ku, M, Lebrecht, D, Erlacher, M, Flotho, C, Strahm, B, Niemeyer, C M, European Working Group of MDS in Children (EWOG-MDS) & Wlodarski, M W 2021, ' Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes ', Nature Medicine, vol. 27, no. 10, pp. 1806-1817 . https://doi.org/10.1038/s41591-021-01511-6

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e81b72e27d4c9c76679649a64ad2cf
http://hdl.handle.net/11585/836418

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Tisagenlecleucel in pediatric and young adult patients with Down syndrome-associated relapsed/refractory acute lymphoblastic leukemia

Autor: Laetsch TW, Maude SL, Balduzzi A, Rives-Sola S, Bittencourt H, Boyer MW, Buechner J, De Moerloose B, Qayed M, Phillips CL, Pulsipher MA, Hiramatsu H, Tiwari R, Grupp SA

Publikováno v: Leukemia
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Down syndrome-associated acute lymphoblastic leukemia (DS-ALL) patients suffer risk of chemotherapy-associated toxicities and poor outcomes. We evaluated tisagenlecleucel in 16 patients with DS-ALL in two phase 2 trials (ELIANA [NCT02435849], ENSIGN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f99e4133b9df4739ec8cf577fb709d0a
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21392

O27 - Topic: AS06-Prognosis/AS06b-Predictive factors of response to treatment: OUTCOMES OF RELAPSED JUVENILE MYELOMONOCYTIC LEUKEMIA: THE ROLE OF SECOND HEMATOPOIETIC STEM CELL TRANSPLANTATION

Autor: Yoshimi, A., Vinci, L., Flotho, C., Noellke, P., Erlacher, M., Lebrecht, D., Masetti, R., De Haas, V., De Moerloose, B., Dworzak, M., Hasle, H., Schmugge, M., Stary, J., Turkiewicz, D., Ussowicz, M., Catala, A., Buechner, J., Jahnukainen, K., Kállay, K., Fabri, O., Smith, O., Göhring, G., Locatelli, F., Strahm, B., Niemeyer, C.

Publikováno v: In Leukemia Research September 2021 108 Supplement