Cancer Report

Cancer : amplified NUP214/ABL1
Summary
Cancer Name amplified NUP214/ABL1
 
Clinics and Pathology
Disease T-cell acute lymphoblastic leukemia (T-ALL)
Epidemiology In about 6% of T-ALL. Mainly observed in T-ALL associated with the mutually exclusive overexpression of the oncogenes HOX11 and HOX11L2. Found in pediatric T-ALL and adults T-ALL.
Prognosis Present data suggests that NUP214-ABL1 fusion gene amplification in T-ALL is associated with poor outcome. NUP214-ABL1 is sensitive to the tyrosine kinase inhibitor imatinib mesylate. Targeting therapies may improve outcome.
 
Related Genes
Gene Symbol ABL1
Description Alternate splicing. mRNA of 6 and 7 kb145 kDa; Localization: nuclear and cytoplasmic; Tyrosine kinase; Ubiquitously expressed
 
Gene Symbol NUP214
Description 7.5 kb mRNA214 kDa; dimerization domains (2 leucine zippers) and a repeated motif; forms homodimers. Nuclear membrane localisation. Component of the Nuclear Pore Complex. Mediate nucleocytoplasmic transport.
 
Cytogenetics
Cytogenetics Molecular FISH using commercially available ABL1 probe shows multiple extrachromosomal sites on metaphases and multiple signals in interphase nuclei. The extrachromosomal amplification of ABL1 appears to be pathognomonique for the presence of NUP214-ABL1 fusion in T-ALL.
There may be a corresponding deletion of the ABL1 probe on one of the chromosomes 9 (see note below concerning mechanisms of gene amplification).
 
Bibliography
Title Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia.
Authors Graux C, Cools J, Melotte C, Quentmeier H, Ferrando A, Levine R, Vermeesch JR, Stul M, Dutta B, Boeckx N, Bosly A, Heimann P, Uyttebroeck A, Mentens N, Somers R, MacLeod RA, Drexler HG, Look AT, Gilliland DG, Michaux L, Vandenberghe P, Wlodarska I, Marynen P, Hagemeijer A.
Citations Nat Genet 2004 Oct;36(10):1084-1089.
PubMedID 15361874
 
Title Fusion of NUP214 to ABL1 on amplified episomes in T-ALL - implications for treatment.
Authors Stergianou K, Fox C, Russell NH.
Citations Leukemia 2005 Sep; 19(9): 1680-1681.
PubMedID 16015385
 
Title Fusion of EML1 to ABL1 in T-cell acute lymphoblastic leukemia with cryptic t(9;14)(q34;q32).
Authors De Keersmaecker K, Graux C, Odero MD, Mentens N, Somers R, Maertens J, Wlodarska I, Vandenberghe P, Hagemeijer A, Marynen P, Cools J.
Citations Blood 2005 Jun 15;105(12):4849-4852.
PubMedID 15713800
 
Title Amplification of the ABL gene in T-cell acute lymphoblastic leukemia.
Authors Barber KE, Martineau M, Harewood L, Stewart M, Cameron E, Strefford JC, Rutherford S, Allen TD, Broadfield ZJ, Cheung KL, Harris RL, Jalali GR, Moorman AV, Robinson HM, Harrison CJ.
Citations Leukemia 2004 Jun; 18(6): 1153-1156.
PubMedID 15057249
 
Title The importance of circular DNA in mammalian gene amplification.
Authors Wahl GM.
Citations Cancer Res 1989 Mar 15; 49(6): 1333-1340.
PubMedID 2647287
 
Title NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance.
Authors Ballerini P, Busson M, Fasola S, van den Akker J, Lapillonne H, Romana SP, Marynen P, Bernard OA, Landman-Parker J, Berger R.
Citations Leukemia 2005 Mar; 19(3): 468-470.
PubMedID 15674415
 
Source and Citation
Source Atlas of Genetics and Cytogenetics in Oncology and Haematology
Citation Nadal N . amplified NUP214/ABL1. Atlas Genet Cytogenet Oncol Haematol. September 2005 .
URL : http://AtlasGeneticsOncology.org/Anomalies/ampNUP214ABL1ID1397.html
URL http://AtlasGeneticsOncology.org/Anomalies/ampNUP214ABL1ID1397.html