Amplified segment in the 'Down Syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2

British Journal of Haematology

Volumn 157, Issue 2, 2012, Pages 197-200

  Canzonetta, Claudia ^a   Hoischen, Alexander ^b   Giarin, Emanuela ^c   Basso, Guiseppe ^c   Veltman, Joris A ^b   Nacheva, Elisabeth ^d   Nizetic, Dean ^a   Groet, Jürgen ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Acute myeloid leukaemia; Chromosome 21; Down syndrome; ERG; RUNX1

Indexed keywords

CD33 ANTIGEN; CD34 ANTIGEN; CD7 ANTIGEN; MYELOPEROXIDASE;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; ARTICLE; CANCER RELAPSE; CASE REPORT; CHRONIC MYELOID LEUKEMIA; COMPARATIVE GENOMIC HYBRIDIZATION; CORD BLOOD STEM CELL TRANSPLANTATION; DEATH; DOWN SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCUS; GENE REARRANGEMENT; HSA21 GENE; HUMAN; IMMUNOPHENOTYPING; KARYOTYPE; KARYOTYPE 46,XY; KARYOTYPE 47,XY; MALE; ONCOGENE; ONCOGENE ERG; ONCOGENE ETS2; ONCOGENE RUNX1; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; TRISOMY 21;

ADOLESCENT; ADULT; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DOWN SYNDROME; FEMALE; GENETIC LOCI; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; PROTO-ONCOGENE PROTEIN C-ETS-2; TRANS-ACTIVATORS;

EID: 84859211211     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08985.x     Document Type: Article

References (15)

1. Baldus, C.D., Liyanarachchi, S., Mrozek, K., Auer, H., Tanner, S.M., Guimond, M., Ruppert, A.S., Mohamed, N., Davuluri, R.V., Caligiuri, M.A., Bloomfield, C.D. & de la Chapelle, A. (2004) Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: amplification discloses overexpression of APP, ETS2, and ERG genes. Proceedings of the National Academy of Sciences of the United States of America, 101, 3915-3920.
2. Canzonetta, C., Mulligan, C., Deutsch, S., Ruf, S., O'Doherty, A., Lyle, R., Borel, C., Lin-Marq, N., Delom, F., Groet, J., Schnappauf, F., De Vita, S., Averill, S., Priestley, J.V., Martin, J.E., Shipley, J., Denyer, G., Epstein, C.J., Fillat, C., Estivill, X., Tybulewicz, V.L., Fisher, E.M., Antonarakis, S.E. & Nizetic, D. (2008) DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. American Journal of Human Genetics, 83, 388-400.
3. Castleton, A.Z., Brazma, D., Howard-Reeves, J., Chanalaris, A., Glanville, J., Nizetic, D., Chakraverty, R. & Nacheva, E.P. (2010) Genome gains at chromosome 21q21/22 segment leads to co-amplification of Down Syndrome Critical Regions and known oncogenes in a case of donor cell-derived acute myeloid leukaemia following allogeneic sex mismatched umbilical cord blood transplantation for chronic myeloid leukaemia. British Journal of Haematology, 151, 285-288.
4. De Vita, S., Mulligan, C., McElwaine, S., Dagna-Bricarelli, F., Spinelli, M., Basso, G., Nizetic, D. & Groet, J. (2007) Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. British Journal of Haematology, 137, 337-341.
5. De Vita, S., Canzonetta, C., Mulligan, C., Delom, F., Groet, J., Baldo, C., Vanes, L., Dagna-Bricarelli, F., Hoischen, A., Veltman, J., Fisher, E.M., Tybulewicz, V.L. & Nizetic, D. (2010) Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome. Oncogene, 29, 6102-6114.
6. Groet, J., McElwaine, S., Spinelli, M., Rinaldi, A., Burtscher, I., Mulligan, C., Mensah, A., Cavani, S., Dagna-Bricarelli, F., Basso, G., Cotter, F.E. & Nizetic, D. (2003) Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder. Lancet, 361, 1617-1620.
7. Korbel, J.O., Tirosh-Wagner, T., Urban, A.E., Chen, X.N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M.C., Lange, K., Sobel, E.M., Barlow, G.M., Aylsworth, A.S., Carpenter, N.J., Clark, R.D., Cohen, M.Y., Doran, E., Falik-Zaccai, T., Lewin, S.O., Lott, I.T., McGillivray, B.C., Moeschler, J.B., Pettenati, M.J., Pueschel, S.M., Rao, K.W., Shaffer, L.G., Shohat, M., Van Riper, A.J., Warburton, D., Weissman, S., Gerstein, M.B., Snyder, M. & Korenberg, J.R. (2009) The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proceedings of the National Academy of Sciences of the United States of America, 106, 12031-12036.
8. Laguna, A., Aranda, S., Barallobre, M.J., Barhoum, R., Fernandez, E., Fotaki, V., Delabar, J.M., de la Luna, S., de la Villa, P. & Arbones, M.L. (2008) The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development. Developmental Cell, 15, 841-853.
9. Litovchick, L., Florens, L.A., Swanson, S.K., Washburn, M.P. & DeCaprio, J.A. (2011) DYRK1A protein kinase promotes quiescence and senescence through DREAM complex assembly. Genes and Development, 25, 801-813.
10. Malinge, S., Izraeli, S. & Crispino, J.D. (2009) Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood, 113, 2619-2628.
11. Rainis, L., Toki, T., Pimanda, J.E., Rosenthal, E., Machol, K., Strehl, S., Gottgens, B., Ito, E. & Izraeli, S. (2005) The proto-oncogene ERG in megakaryoblastic leukemias. Cancer Research, 65, 7596-7602.
12. Rand, V., Parker, H., Russell, L.J., Schwab, C., Ensor, H., Irving, J., Jones, L., Masic, D., Minto, L., Morrison, H., Ryan, S., Robinson, H., Sinclair, P., Moorman, A.V., Strefford, J.C. & Harrison, C.J. (2011) Genomic characterization implicates iAMP21 as a likely primary genetic event in childhood B-cell precursor acute lymphoblastic leukemia. Blood, 117, 6848-6855.
13. Silva, F.P., Almeida, I., Morolli, B., Brouwer-Mandema, G., Wessels, H., Vossen, R., Vrieling, H., Marijt, E.W., Valk, P.J., Kluin-Nelemans, H.C., Sperr, W.R., Ludwig, W.D. & Giphart-Gassler, M. (2009) Genome wide molecular analysis of minimally differentiated acute myeloid leukemia. Haematologica, 94, 1546-1554.
14. Wechsler, J., Greene, M., McDevitt, M.A., Anastasi, J., Karp, J.E., Le Beau, M.M. & Crispino, J.D. (2002) Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nature Genetics, 32, 148-152.
15. Westbrook, T.F., Martin, E.S., Schlabach, M.R., Leng, Y., Liang, A.C., Feng, B., Zhao, J.J., Roberts, T.M., Mandel, G., Hannon, G.J., Depinho, R.A., Chin, L. & Elledge, S.J. (2005) A genetic screen for candidate tumor suppressors identifies REST. Cell, 121, 837-848.