Ontology highlight
ABSTRACT:
SUBMITTER: Sahoo SS
PROVIDER: S-EPMC9330547 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
Sahoo Sushree S SS Pastor Victor B VB Goodings Charnise C Voss Rebecca K RK Kozyra Emilia J EJ Szvetnik Amina A Noellke Peter P Dworzak Michael M Starý Jan J Locatelli Franco F Masetti Riccardo R Schmugge Markus M De Moerloose Barbara B Catala Albert A Kállay Krisztián K Turkiewicz Dominik D Hasle Henrik H Buechner Jochen J Jahnukainen Kirsi K Ussowicz Marek M Polychronopoulou Sophia S Smith Owen P OP Fabri Oksana O Barzilai Shlomit S de Haas Valerie V Baumann Irith I Schwarz-Furlan Stephan S Niewisch Marena R MR Sauer Martin G MG Burkhardt Birgit B Lang Peter P Bader Peter P Beier Rita R Müller Ingo I Albert Michael H MH Meisel Roland R Schulz Ansgar A Cario Gunnar G Panda Pritam K PK Wehrle Julius J Hirabayashi Shinsuke S Derecka Marta M Durruthy-Durruthy Robert R Göhring Gudrun G Yoshimi-Noellke Ayami A Ku Manching M Lebrecht Dirk D Erlacher Miriam M Flotho Christian C Strahm Brigitte B Niemeyer Charlotte M CM Wlodarski Marcin W MW
Nature medicine 20211007 10
Germline SAMD9 and SAMD9L mutations (SAMD9/9L<sup>mut</sup>) 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 landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L<sup>mut</sup> accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the co ...[more]