Significance of SF3B1 Mutations in Myeloid Neoplasms

David C Gajzer; Cecilia C S Yeung

doi:10.1016/j.cll.2023.07.005

Significance of SF3B1 Mutations in Myeloid Neoplasms

Clin Lab Med. 2023 Dec;43(4):597-606. doi: 10.1016/j.cll.2023.07.005. Epub 2023 Sep 4.

Authors

David C Gajzer¹, Cecilia C S Yeung²

Affiliations

¹ University of Washington, Seattle, WA, USA.
² University of Washington, Seattle, WA, USA; Fred Hutch Cancer Center, Seattle, WA, USA. Electronic address: cyeung@fredhutch.org.

PMID: 37865505
DOI: 10.1016/j.cll.2023.07.005

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.

Keywords: Maematopoiesis; Mutation; Myeloid; Neoplasm; SF3B1; Tumor.

Publication types

Review
Research Support, N.I.H., Extramural

MeSH terms

Humans
Mutation
Myelodysplastic Syndromes* / diagnosis
Myelodysplastic Syndromes* / genetics
Neoplasms*
Phosphoproteins / genetics
Prognosis
RNA Splicing Factors / genetics

Substances

RNA Splicing Factors
SF3B1 protein, human
Phosphoproteins