title: Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.
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.
authors.affiliation: 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.
authors.forename: Shideh
authors.initials: S
authors.lastname: Kazerounian
authors.affiliation: 3. University Hospitals Case Medical Center, Cleveland, OH, USA.
authors.forename: Pedro D S C
authors.initials: PD
authors.lastname: Ciarlini
authors.affiliation: 1. Boston Children's Hospital, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Yuan
authors.affiliation: 1. Boston Children's Hospital, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.
authors.forename: Roxanne
authors.initials: R
authors.lastname: Ghazvinian
authors.affiliation: 4. Institute of Molecular Genetics of the ASCR, Prague, Czech Republic.
authors.forename: Meritxell
authors.initials: M
authors.lastname: Alberich-Jorda
authors.affiliation: 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.
authors.forename: Mugdha
authors.initials: M
authors.lastname: Joshi
authors.affiliation: 2. Harvard Medical School, Boston, MA, USA ; 5. Beth Israel Deaconess Medical Center, Hematology/Oncology Division, Boston, MA, USA.
authors.forename: Hong
authors.initials: H
authors.lastname: Zhang
authors.affiliation: 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.
authors.forename: Alan H
authors.initials: AH
authors.lastname: Beggs
authors.affiliation: 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.
authors.forename: Hanna T
authors.initials: HT
authors.lastname: Gazda
keywords: Diamond-Blackfan anemia; Ribosomal proteins RPL5 and RPS24; Rpl5 and Rps24 heterozygous mice; Soft tissue sarcoma