DISEASE: 5q- syndrome
Myelodysplastic syndrome [DS:
5q- syndrome is a subtype of myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression to acute myeloid leukemia (AML) compared with other types of MDS. The WHO has proposed diagnostic criteria for the 5q- syndrome, defining the syndrome as representing de novo MDS, with a 5q interstitial deletion between bands 31 and 33 as the sole cytogenetic abnormality, macrocytic anemia, less than 5% blasts in the peripheral blood, and a normal or increased platelet count. The 5q- syndrome is also unique because it shows a remarkable response to treatment with the lenalidomide. It has been suggested that the 5q- syndrome is caused by haploinsufficiency of the ribosomal protein S14 (RPS14) gene which maps to the commonly deleted region.
Human diseases [BR:
H01484 5q- syndrome
Human diseases in ICD-11 classification [BR:
Neoplasms of haematopoietic or lymphoid tissues
2A36 Myelodysplastic syndrome with isolated del(5q)
H01484 5q- syndrome
] (chromosome 5q deletion)
Gaballa MR, Besa EC
Myelodysplastic syndromes with 5q deletion: pathophysiology and role of lenalidomide.
Ann Hematol 93:723-33 (2014)
Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
Nature 451:335-9 (2008)
Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q.
J Clin Oncol 24:2576-82 (2006)
Kronke J, Fink EC, Hollenbach PW, MacBeth KJ, Hurst SN, Udeshi ND, Chamberlain PP, Mani DR, Man HW, Gandhi AK, Svinkina T, Schneider RK, McConkey M, Jaras M, Griffiths E, Wetzler M, Bullinger L, Cathers BE, Carr SA, Chopra R, Ebert BL
Lenalidomide induces ubiquitination and degradation of CK1alpha in del(5q) MDS.
Nature 523:183-8 (2015)
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