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Article

Clinicopathologic characterisation of myeloid neoplasms with concurrent spliceosome mutations and myeloproliferative-neoplasm-associated mutations.

Journal of clinical pathology - 1 Nov 2020

Liu Yen-Chun, Illar Gwendolyn M, Bailey Nathanael Glen

Abstract excerpt

AIMS: Spliceosome genes (SF3B1, SRSF2, U2AF1 and ZRSR2) are commonly mutated in myeloid neoplasms, particularly in myelodysplastic syndromes (MDS). JAK2, MPL and CALR mutations are associated with myeloproliferative neoplasms (MPN). Although SF3B1 and MPN-associated mutations frequently co-occur in the rare entity MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), myeloid neoplasms with concurrent...

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PMID: 32217616
DOI: 10.1136/jclinpath-2020-206495

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