J Cancer 2016; 7(1):32-36. doi:10.7150/jca.13292 This issue

Short Research Communication

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice

Shideh Kazerounian1, 2✉, Pedro D.S.C. Ciarlini3, Daniel Yuan1, Roxanne Ghazvinian1, Meritxell Alberich-Jorda4, Mugdha Joshi1, 2, Hong Zhang2, 5, Alan H. Beggs1, 2, Hanna T. Gazda1, 2, 6✉

1. Boston Children's Hospital, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA
2. Harvard Medical School, Boston, MA, USA
3. University Hospitals Case Medical Center, Cleveland, OH, USA
4. Institute of Molecular Genetics of the ASCR, Prague, Czech Republic
5. Beth Israel Deaconess Medical Center, Hematology/Oncology Division, Boston, MA, USA
6. Broad Institute, Cambridge, MA, USA

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Kazerounian S, Ciarlini PDSC, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT. Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice. J Cancer 2016; 7(1):32-36. doi:10.7150/jca.13292. Available from https://www.jcancer.org/v07p0032.htm

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Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome associated with ribosomal protein (RP) gene mutations. Recent studies have also demonstrated an increased risk of cancer predisposition among DBA patients. In this study, we report the formation of soft tissue sarcoma in the Rpl5 and Rps24 heterozygous mice. Our observation suggests that even though one wild-type allele of the Rpl5 or Rps24 gene prevents anemia in these mice, it still predisposes them to cancer development.

Keywords: Ribosomal proteins RPL5 and RPS24, Diamond-Blackfan anemia, Soft tissue sarcoma, Rpl5 and Rps24 heterozygous mice