%0 Journal Article %T Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide %A Yuka Sugimoto %A Mikkael A Sekeres %A Hideki Makishima %A Fabiola Traina %A Valeria Visconte %A Anna Jankowska %A Andres Jerez %A Hadrian Szpurka %A Christine L O'Keefe %A Kathryn Guinta %A Manuel Afable %A Ramon Tiu %A Kathy L McGraw %A Alan F List %A Jaroslaw Maciejewski %J Journal of Hematology & Oncology %D 2012 %I BioMed Central %R 10.1186/1756-8722-5-4 %X We have studied clinical, molecular and cytogenetic features of 42 patients with MDS, myeloproliferative neoplasms (MPN), MDS/MPN overlap syndromes and secondary acute myeloid leukemia (sAML) without del[5q] by metaphase cytogenetics (MC) who underwent therapy with LEN.Fluorescence in situ hybridization (FISH) or single nucleotide polymorphism array (SNP-A)-based karyotyping marginally increased the diagnostic yield over MC, detecting 2/42 (4.8%) additional cases with del[5q], one of whom were responded to LEN. Responses were more often observed in patients with a normal karyotype by MC (60% vs abnormal MC; 17%, p = .08) and those with gain of chromosome 8 material by either of all 3 karyotyping methods (83% vs all other chromosomal abnormalities; 44% p = .11). However, 5 out of those 6 patients received combined LEN/AZA therapy and it may also suggest those with gain of chromosome 8 material respond well to AZA. The addition of FISH or SNP-A did not improve the predictive value of normal cytogenetics by MC. Mutational analysis of TET2, UTX, CBL, EZH2, ASXL1, TP53, RAS, IDH1/2, and DNMT-3A was performed on 21 of 41 patients, and revealed 13 mutations in 11 patients, but did not show any molecular markers of responsiveness to LEN.Normal karyotype and gain of chromosome 8 material was predictive of response to LEN in non-del[5q] patients with myeloid malignancies.Lenalidomide (LEN) is particularly effective in patients with myelodysplastic syndromes (MDS) and the del[5q] cytogenetic abnormality [1-3]. In MDS-003, the phase II registration trial of 148 lower-risk MDS patients with del[5q] with or without other karyotypic abnormalities, 67% achieved transfusion independence with a complete and partial cytogenetic response rate of 45% and 28%, respectively [2]. There was no significant association between karyotypic complexity and the frequency of a cytogenetic response. LEN also has activity in a proportion of MDS without del[5q] [4] and [5]. Transfusion-dependent MDS p %K Lenalidomide %K del[5q] %K Metaphase cytogenetics %K Fluorescence in situ hybridization %K Single nucleotide polymorphism array %U http://www.jhoonline.org/content/5/1/4