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

Shideh Kazerounian; Pedro D S C Ciarlini; Daniel Yuan; Roxanne Ghazvinian; Meritxell Alberich-Jorda; Mugdha Joshi; Hong Zhang; Alan H Beggs; Hanna T Gazda

doi:10.7150/jca.13292

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

J Cancer. 2016 Jan 1;7(1):32-6. doi: 10.7150/jca.13292. eCollection 2016.

Authors

Shideh Kazerounian¹, Pedro D S C Ciarlini², Daniel Yuan³, Roxanne Ghazvinian³, Meritxell Alberich-Jorda⁴, Mugdha Joshi¹, Hong Zhang⁵, Alan H Beggs¹, Hanna T Gazda⁶

Affiliations

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

Abstract

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

Abstract

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