Article
Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
Blood - 12 Sept 2024
Sirenko Maria, Bernard Elsa, Creignou Maria, Domenico Dylan, Farina Andrea, Arango Ossa Juan E, Kosmider Olivier, Hasserjian Robert, Jädersten Martin, Germing Ulrich, Sanz Guillermo, van de Loosdrecht Arjan A, Gurnari Carmelo, Follo Matilde Yung, Thol Felicitas, Zamora Lurdes, Pinheiro Ronald Feitosa, Pellagatti Andrea, Elias Harold K, Haase Detlef, Sander Birgitta, Orna Elisa, Zoldan Katharina, Eder Lea Naomi, Sperr Wolfgang R, Thalhammer Renate, Ganster Christina, Adès Lionel, Tobiasson Magnus, Palomo Laura, Della Porta Matteo Giovanni, Huberman Kety, Fenaux Pierre, Belickova Monika, Savona Michael R, Klimek Virginia M, Santos Fabio P S, Boultwood Jacqueline, Kotsianidis Ioannis, Santini Valeria, Solé Francesc, Platzbecker Uwe, Heuser Michael, Valent Peter, Finelli Carlo, Voso Maria Teresa, Shih Lee-Yung, Ogawa Seishi, Fontenay Michaela, Jansen Joop H, Cervera Jose, Ebert Benjamin L, Bejar Rafael, Greenberg Peter L, Gattermann Norbert, Malcovati Luca, Cazzola Mario, Beck David B, Hellström-Lindberg Eva, Papaemmanuil Elli
Abstract excerpt
ABSTRACT: Mutations in UBA1, which are disease-defining for VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) 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 polymerase chain reaction profiling of a selected cohort of...
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