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Co-mutation pattern, clonal hierarchy, and clone size concur to determine disease phenotype of SRSF2P95-mutated neoplasms.

Leukemia - 1 Aug 2021

Todisco Gabriele, Creignou Maria, Gallì Anna, Guglielmelli Paola, Rumi Elisa, Roncador Marco, Rizzo Ettore, Nannya Yasuhito, Pietra Daniela, Elena Chiara, Bono Elisa, Molteni Elisabetta, Rosti Vittorio, Catricalá Silvia, Sarchi Martina, Dimitriou Marios, Ungerstedt Johanna, Vannucchi Alessandro Maria, Hellström-Lindberg Eva, Ogawa Seishi, Cazzola Mario, Malcovati Luca

Abstract excerpt

Somatic mutations in splicing factor genes frequently occur in myeloid neoplasms. While SF3B1 mutations are associated with myelodysplastic syndromes (MDS) with ring sideroblasts, SRSF2P95 mutations are found in different disease categories, including MDS, myeloproliferative neoplasms (MPN), myelodysplastic/myeloproliferative neoplasms (MDS/MPN), and acute myeloid leukemia (AML). To identify molecular...

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PMID: 33349666
DOI: 10.1038/s41375-020-01106-z

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