Mini Review

5q-Syndrome: A review of a rare myelodysplastic syndrome

Avijoy Roy Choudhury1, Layuren Moodley2, Arumugam Moodley3

1UWA Medical School, The University of Western Australia, Perth, Western Australia, Australia
2Xavier University School of Medicine, Oranjestad, Aruba
3The University of Notre Dame Australia, Fremantle, Western Australia, Australia


5q- syndrome is a myelodysplastic syndrome that is caused by the deletion of a part of the long arm on chromosome 5. 5q- syndrome causes treatment-resistance macrocytic anemia and commonly affects the elderly female population. Critical to the pathogenesis of 5q- syndrome is the haploinsufficiency of RPS14. Other genes that participate in the pathogenesis of 5q- syndrome include SPARC, miR-145, miR-146a, EGR1, CTNNA1, and CDC25C. Many patients remain stable and asymptomatic for years while in other patients, the condition can progress to acute myeloid leukemia. The progression to acute myeloid leukemia takes place in approximately 10% of individuals with 5q- syndrome. The treatment that is considered highly effective for 5q- syndrome is lenalidomide. This review aims to summarize the current knowledge on 5q- syndrome. Furthermore, this paper also aims to promote further research and develop an awareness of the condition. Considering the impact 5q- syndrome has on impacted individuals and the lack of research available on the condition, greater research and awareness should be promoted.

Keywords: acute myeloid leukemia; anemia; bone marrow; myelodysplastic syndromes