title: Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q.
abstract: Deletions of the long (q) arm of chromosome 5 [del(5q)]occur in patients with myelodysplastic syndromes (MDS) including, but not limited to, those who meet the WHO definition of the 5q- syndrome. Del(5q) MDS patients frequently have symptomatic anemia, and its treatment has traditionally consisted of RBC transfusions and, for some, iron chelation therapy. Erythropoietin, darbepoetin, hypomethylating agents, and lenalidomide can enhance erythropoiesis in MDS patients with anemia, increasing hemoglobin levels and abrogating RBC transfusion requirements. Lenalidomide is particularly active in treating the anemia of del(5q) MDS, which is especially relevant given the low response rate to erythropoietin in this group of patients. In a recent study of 43 MDS patients, 10 of 12 patients (83%) with del(5q) MDS achieved sustained RBC transfusion independence (or a > 2 g/dL increase in hemoglobin), compared with 57% of those with a normal karyotype and 12% of those with other karyotypic abnormalities. Complete cytogenetic remissions were achieved in 75% (nine of 12) of the del(5q) MDS patients, suggesting that lenalidomide targets a fundamental pathogenetic feature of MDS that is more pronounced in the presence of chromosomal 5q deletions. This review highlights some issues about the classification and treatment of del(5q) MDS.
authors.affiliation: Division of Hematologic Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021-6007, USA. s-nimer@mskcc.org
authors.forename: Stephen D
authors.initials: SD
authors.lastname: Nimer
mesh_terms: D000747:Anemia, Hypochromic / Q000188:drug therapy / Q000209:etiology / Q000473:pathology / Q000628:therapy*; D001374:Azacitidine / Q000627:therapeutic use; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D017707:Erythrocyte Transfusion; D004920:Erythropoiesis / Q000187:drug effects; D004921:Erythropoietin / Q000627:therapeutic use; D017353:Gene Deletion; D006397:Hematinics / Q000627:therapeutic use*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007621:Karyotyping; D000077269:Lenalidomide; D009190:Myelodysplastic Syndromes / Q000145:classification / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D011237:Predictive Value of Tests; D011379:Prognosis; D016032:Randomized Controlled Trials as Topic; D011994:Recombinant Proteins / Q000627:therapeutic use; D013792:Thalidomide / Q000031:analogs & derivatives* / Q000627:therapeutic use
chemical_list: D006397:Hematinics; D011994:Recombinant Proteins; D004921:Erythropoietin; D013792:Thalidomide; D000077269:Lenalidomide; D001374:Azacitidine