Acquired ribosomopathies in leukemia and solid tumors

Research output: Contribution to journalArticlepeer-review

Abstract

A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene defects responsible for the rare inherited bone marrow failure syndrome Diamond-Blackfan anemia (DBA). Additional inherited and acquired defects in ribosomal proteins (RPs) continue to be identified and are the basis for a new class of diseases called the ribosomopathies. Acquired RPS14 haploinsufficiency has been found to be causative of the bone marrow failure found in 5q- myelodysplastic syndromes. Both under- and overexpression of RPs have also been implicated in several malignancies. This review will describe the somatic ribosomopathies that have been found to be associated with a variety of solid tumors as well as leukemia and will review cancers in which over- or underexpression of these proteins seem to be associated with outcome.

Original languageEnglish (US)
Pages (from-to)716-719
Number of pages4
JournalHematology
Volume2017
Issue number1
DOIs
StatePublished - Dec 8 2017
Externally publishedYes

ASJC Scopus subject areas

  • Hematology

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