Author/Authors :
La Starza، نويسنده , , Roberta and Crescenzi، نويسنده , , Barbara and Pierini، نويسنده , , Valentina and Romoli، نويسنده , , Silvia and Gorello، نويسنده , , Paolo and Brandimarte، نويسنده , , Lucia and Matteucci، نويسنده , , Caterina and Kropp، نويسنده , , Maria Grazia and Barba، نويسنده , , Gianluca and Martelli، نويسنده , , Massimo Fabrizio and Mecucci، نويسنده , , Cristina، نويسنده ,
Abstract :
In three patients with acute lymphoblastic leukemia (ALL) and in another with Burkitt lymphoma (BL), conventional cytogenetics and fluorescence in situ hybridization (FISH), applied singly or in combination, showed 1q duplication in two cases of ALL with hyperdiploid karyotypes, 1q duplication resulting from an unbalanced translocation in a third case of ALL, and inv dup(1)(q) in a patient with BL. Centromeric or telomeric breakpoints and extension of the 1q duplicons varied in each case. FISH defined a minimal, common duplicated region of 93kb at band 1q21.2 corresponding to clone RP11-212K13. In this region three putative oncogenes or tumor suppressor genes have been mapped: SF3B4 (splicing factor 3b, subunit 4), OTUD7B (OTU domain containing 7B), and MTMR11 (myotubularin related protein 11). For the first time, a minimal common 1q21.2 duplicated sequence has been identified in lymphoid malignancies in a region where putative oncogenes or suppressor genes have been mapped. This finding elucidates the genomic background of ALL and BL with 1q duplication and provides the basis for molecular studies investigating which genes are involved in leukemogenesis or disease progression in these cases.
