Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan Esteban Arango Ossa, Olivier Kosmider, Robert P Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo F Sanz, Arjan A van de Loosdrecht, Carmelo Gurnari, Matilde Y Follo, Felicitas R Thol, Lurdes Zamora, Andrea Pellagatti, Harold Kunal Elias, Detlef Thomas Haase, Birgitta Sander, Elisa Orna, Katharina Zoldan, Lea Naomi Eder, Wolfgang R Sperr, Renate Thalhammer, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety H Huberman, Pierre Fenaux, Monika Belickova, Michael R Savona, Virginia Klimek, Fabio P S Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Sole, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H Jansen, José Cervera, Benjamin L Ebert, Rafael Bejar, Peter L Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B Beck, Eva S Hellstrom-Lindberg, Elli Papaemmanuil, Ronald Feitosa Pinheiro
Mutations in UBA1, which are disease-defining for VEXAS syndrome, have been reported in patients diagnosed with myelodysplastic syndromes (MDS). Here, we define the prevalence and clinical associations of UBA1 mutations in a representative cohort of patients with MDS. Digital droplet PCR profiling of a selected cohort of 375 male patients lacking MDS disease-defining mutations or established WHO disease classification identified 28 patients (7%) with UBA1 p.M41T/V/L mutations. Using targeted sequencing of UBA1 in a representative MDS cohort (n=2,027), we identified an additional 27 variants in 26 patients (1%), which we classified as likely/pathogenic (n=12) and unknown significance (n=15)...
April 30, 2024: Blood