title: Myelodysplastic syndromes with del(5q): indications and strategies for cytogenetic testing.
abstract: Cytogenetics is a major predictor of disease behavior and treatment outcome in myelodysplastic syndromes (MDS). Deletion of the long arm of chromosome 5, del(5q), is the most common chromosomal abnormality found in patients with MDS. The development of lenalidomide (Revlimid; Celgene, Summit, NJ) as an effective targeted therapy for low/intermediate-risk MDS with a del(5q) has increased the importance of karyotyping in disease management. In the present review, the importance of an accurate cytogenetic diagnosis in del(5q) MDS, its impact on prognosis, and the effect it can have on the choice of treatment was discussed. In addition, the strengths and limitations of conventional and novel cytogenetic testing techniques currently available for patients with del(5q) MDS were evaluated. A practical diagnostic algorithm was provided to help facilitate the early detection and optimal treatment of MDS patients with a del(5q) abnormality. While the gold standard for genetic testing remains metaphase karyotyping, emerging novel molecular techniques such as fluorescence in situ hybridization may provide clinically valuable complementary and supplemental data.
authors.affiliation: MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377 Munich, Germany. claudia.haferlach@mll-online.com
authors.forename: Claudia
authors.initials: C
authors.lastname: Haferlach
authors.forename: Ulrike
authors.initials: U
authors.lastname: Bacher
authors.forename: Ramon
authors.initials: R
authors.lastname: Tiu
authors.forename: Jaroslaw P
authors.initials: JP
authors.lastname: Maciejewski
authors.forename: Alan
authors.initials: A
authors.lastname: List
mesh_terms: D000465:Algorithms; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D000077269:Lenalidomide; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D032681:Spectral Karyotyping; D013792:Thalidomide / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D000970:Antineoplastic Agents; D013792:Thalidomide; D000077269:Lenalidomide