PMID- 17498563 OWN - NLM STAT- MEDLINE DCOM- 20070626 LR - 20161124 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 175 IP - 1 DP - 2007 May TI - A common 93-kb duplicated DNA sequence at 1q21.2 in acute lymphoblastic leukemia and Burkitt lymphoma. PG - 73-6 AB - 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. FAU - La Starza, Roberta AU - La Starza R AD - Department of Hematology, University of Perugia, IBiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, via Brunamonti 51, 06122 Perugia, Italy. FAU - Crescenzi, Barbara AU - Crescenzi B FAU - Pierini, Valentina AU - Pierini V FAU - Romoli, Silvia AU - Romoli S FAU - Gorello, Paolo AU - Gorello P FAU - Brandimarte, Lucia AU - Brandimarte L FAU - Matteucci, Caterina AU - Matteucci C FAU - Kropp, Maria Grazia AU - Kropp MG FAU - Barba, Gianluca AU - Barba G FAU - Martelli, Massimo Fabrizio AU - Martelli MF FAU - Mecucci, Cristina AU - Mecucci C LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (RNA Splicing Factors) RN - 0 (RNA-Binding Proteins) RN - 0 (SF3B4 protein, human) SB - IM MH - Burkitt Lymphoma/*genetics MH - Child MH - Child, Preschool MH - *Chromosome Aberrations MH - Chromosome Mapping MH - Chromosomes, Human, Pair 1/*genetics MH - Female MH - *Gene Duplication MH - Genes, Tumor Suppressor MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Middle Aged MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - RNA Splicing Factors MH - RNA-Binding Proteins/genetics EDAT- 2007/05/15 09:00 MHDA- 2007/06/27 09:00 CRDT- 2007/05/15 09:00 PHST- 2006/10/16 00:00 [received] PHST- 2007/01/17 00:00 [revised] PHST- 2007/01/22 00:00 [accepted] PHST- 2007/05/15 09:00 [pubmed] PHST- 2007/06/27 09:00 [medline] PHST- 2007/05/15 09:00 [entrez] AID - S0165-4608(07)00073-8 [pii] AID - 10.1016/j.cancergencyto.2007.01.011 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2007 May;175(1):73-6. doi: 10.1016/j.cancergencyto.2007.01.011.