• What is SF3B1?
  • SF3B1 in Myelodysplastic Syndromes
  • Clinical Trials

SF3B1

Splicing factor 3b, subunit 1, 155kDa (SF3B1) is a gene that codes for part of the splicing factor 3b protein complex (Gene 2014). The complex is a member of the spliceosome and is involved in transcription and mRNA processing (Gene 2014). Spliceosome mutations are observed in MDS, chronic lymphocytic leukemia (CLL), AML, and chronic myelomonocytic leukemia (CMML), and these mutations can cause abnormal expression patterns of some genes involved in cancer pathogenesis (Chesnais et al. 2012).​

Related Pathways

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2015. SF3B1. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/sf3b1/?tab=0 (Updated December 7).

Last Updated: December 7, 2015

SF3B1 in Myelodysplastic Syndromes

SF3B1 mutations occur in 19.9% of MDS (COSMIC). SF3B1 mutations are only observed in refractory anemia with ring sideroblasts (RARS), a type of MDS, and a subtype of MDS/MPN known as refractory anemia with ring sideroblasts and thrombocytosis (RARS-T; Cazzola, Della Porta, and Malcovati 2013). SF3B1 mutations are involved in ring sideroblast formation (Cazzola, Della Porta, and Malcovati 2013; Malcovati et al. 2011). Sideroblasts are red blood cell precursor cells, and ring sideroblasts are abnormal sideroblasts characterized by a ring of iron particles around the cell nucleus. SF3B1 contains a common K700E mutation as well as other recurrent mutations in homeodomains (Yoshida 2011), suggesting aberrant function of the gene.

SF3B1 mutations have been associated with favorable overall survival and a lower likelihood of transformation to AML (Cazzola, Della Porta, and Malcovati 2013; Malcovati et al. 2011).​

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2014. SF3B1 in Myelodysplastic Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/sf3b1/ (Updated September 23).

Last Updated: September 23, 2014

My Cancer Genome has released its new and improved cancer clinical trials search tool on our beta website. Please visit beta.padiracinnovation.org to check it out!

Disclaimer: The information presented at padiracinnovation.org is compiled from sources believed to be reliable. Extensive efforts have been made to make this information as accurate and as up-to-date as possible. However, the accuracy and completeness of this information cannot be guaranteed. Despite our best efforts, this information may contain typographical errors and omissions. The contents are to be used only as a guide, and health care providers should employ sound clinical judgment in interpreting this information for individual patient care.