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P051 - Topic: AS04-MDS Biology and Pathogenesis/AS04d-Somatic mutations: THE EVOLVING GENETIC LANDSCAPE OF PEDIATRIC MDS-EB

Autor: Erlacher, M., Yoshimi, A., Stasik, S., Ramamoorthy, S., Lebrecht, D., Noellke, P., Goehring, G., De Haas, V., Starý, J., Masetti, R., Ussowicz, M., Barzilai-Birenboim, S., De Moerloose, B., Kállay, K., Buechner, J., Dworzak, M., Catala, A., Hasle, H., Schmugge, M., Polychronopoulou, S., Boďová, I., Jahnukainen, K., Smith, O., Kavcic, M., Turkiewicz, D., Kjollerstrom, P., Locatelli, F., Wlodarski, M., Thiede, C., Strahm, B., Niemeyer, C.

Publikováno v: In Leukemia Research May 2023 128 Supplement

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

P47 - Topic: AS07-Singular Entities/Subtypes/AS07c-Hereditary MDS including predisposition syndromes: HEMATOPOIETIC STEM CELL TRANSPLANTATION IN CHILDREN AND ADOLESCENTS WITH GATA2-RELATED MYELODYSPLASTIC SYNDROME

Autor: Bortnick, R., Wlodarski, M., De Haas, V., De Moerloose, B., Dworzak, M., Hasle, H., Masetti, R., Stary, J., Turkiewicz, D., Ussowicz, M., Kozyra, E., Albert, M., Bader, P., Bordon, V., Cario, G., Beier, R., Schulte, J., Bresters, D., Mueller, I., Pichler, H., Sedlacek, P., Sauer, M., Zecca, M., Göhring, G., Yoshimi, A., Noellke, P., Erlacher, M., Locatelli, F., Niemeyer, C., Strahm, B.

Publikováno v: In Leukemia Research September 2021 108 Supplement

O05 - Topic: AS04-MDS Biology and Pathogenesis/AS04b-Clonal diversity & evolution: SOMATIC GENETIC RESCUE IN SAMD9/SAMD9L MDS PREDISPOSITION SYNDROMES

Autor: Sahoo, S., Pastor, V., Goodings, C., Noellke, P., Dworzak, M., Stary, 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., Fabri, O., Barzilai, S., De Haas, V., Baumann, I., Schwarz-Furlan, S., Göhring, G., Yoshimi, A., Flotho, C., Strahm, B., Erlacher, M., Niemeyer, C., Wlodarski, M.

Publikováno v: In Leukemia Research September 2021 108 Supplement