• What is ZRSR2?
  • ZRSR2 in Myelodysplastic Syndromes
  • Clinical Trials

ZRSR2

Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2) is a gene that encodes for a member of the spliceosome. The protein coded by this gene associates with the U2 auxiliary factor, which plays an important role in RNA splicing (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).​

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

Suggested Citation: Strickland, S., A. Kim. 2015. ZRSR2. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/zrsr2/?tab=0 (Updated December 7).

Last Updated: December 7, 2015

ZRSR2 in Myelodysplastic Syndromes

ZRSR2 mutations occur in 6.8% of MDS (COSMIC). The role of ZRSR2 mutations in MDS is not yet well understood (Cazzola, Della Porta, and Malcovati 2013). Unlike many of the other spliceosome genes, mutations in ZRSR2 are found throughout the gene without recurrent sites of mutations.

ZRSR2 mutations have been associated with neutral or unfavorable outcomes. Thol et al. (2012) observed no impact of ZRSR2 mutations on outcomes of 193 MDS patients, while Damm et al. (2012) observed shorter overall survival and higher likelihood of transformation to AML for patients with ZRSR2 mutations and no mutation in TET2 in a study of 221 MDS patients.​

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

Suggested Citation: Strickland, S., A. Kim. 2015. ZRSR2 in Myelodysplastic Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/zrsr2/ (Updated October 16).

Last Updated: October 16, 2015

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