Significance of SF3B1 Mutations in Myeloid Neoplasms.

David C Gajzer, Cecilia C S Yeung

Journal: Clinics in laboratory medicine 2023;43(4):597-606

PMID: 37865505

Full Text on Elsevier Science View on PubMed

Abstract

Myelodysplastic neoplasm with low blasts and SF3B1 mutation (MDS-LB-SF3B1) has undergone significant classification changes in the past year with the publication of the 5th edition of the World Health Organization Classification of Tumors of Haematopoietic and Lymphoid Tissues and the International Consensus Classification. This article reviews the basic biology of SF3B1, iron metabolism, and dysfunction that leads to the formation of ring sideroblasts. It highlights neoplastic and non-neoplastic considerations to the differential diagnoses. Finally, a review on the evolution of the prognostic scoring system and treatment regimens that are available to patients with a diagnosis of MDS is presented.

Address: University of Washington, Seattle, WA, USA.; University of Washington, Seattle, WA, USA; Fred Hutch Cancer Center, Seattle, WA, USA. Electronic address: [email protected].

DOI: 10.1016/j.cll.2023.07.005