Phân tích FISH các khối u huyết học với sự tái sắp xếp 1p36 cho phép định nghĩa một cụm 2.5 Mb nằm trong vùng tối thiểu bị xóa trong hội chứng xóa 1p36

Atkin NB (1986) Chromosome 1 aberrations in cancer. Cancer Genet Cytogenet 21:279–285 Bader SA, Fasching C, Brodeur GM, Stanbridge EJ (1991) Dissociation of suppression of tumorigenicity and differentiation in vitro effected by transfer of single human chromosomes into human neuroblastoma cells. Cell Growth Differ 2:245–255 Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE (2001) Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 11:1005–1017 Bauer A, Savelyeva L, Claas A, Praml C, Berthold F, Schwab M (2001) Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig. Genes Chromosomes Cancer 31:228–239 Benson G (1999) Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res 27:573–580 Boei JJ, Vermeulen S, Natarajan AT (1998) Dose-response curves for X-ray induced interchanges and interarm intrachanges in human lymphocytes using arm-specific probes for chromosome 1. Mutat Res 404:45–53 Brodeur GM, Sekhon G, Goldstein MN (1977) Chromosomal aberrations in human neuroblastomas. Cancer 40:2256–2263 Caron H, Sluis P van, Kraker J de, Bokkerink J, Egeler M, Laureys G, Slater R, Westerveld A, Voute PA, Versteeg R (1996) Allelic loss of chromosome 1p as a predictor of unfavorable outcome in patients with neuroblastoma. N Engl J Med 334:225–230 Caron H, Spieker N, Godfried M, Veenstra M, Sluis P van, Kraker J de, Voute P, Versteeg R (2001) Chromosome bands 1p35-36 contain two distinct neuroblastoma tumor suppressor loci, one of which is imprinted. Genes Chromosomes Cancer 30:168–174 Cheng NC, Van Roy N, Chan A, Beitsma M, Westerveld A, Speleman F, Versteeg R (1995) Deletion mapping in neuroblastoma cell lines suggests two distinct tumor suppressor genes in the 1p35–36 region, only one of which is associated with N-myc amplification. Oncogene 10:291–297 Dave BJ, Hopwood VL, King TM, Jiang H, Spitz MR, Pathak S, Ziang H (1995) Genetic susceptibility to lung cancer as determined by lymphocytic chromosome analysis. Cancer Epidemiol Biomarkers Prev 4:743–749 Dave BJ, Pickering DL, Hess MM, Weisenburger DD, Armitage JO, Sanger WG (1999) Deletion of cell division cycle 2-like 1 gene locus on 1p36 in non-Hodgkin lymphoma. Cancer Genet Cytogenet 108:120–126 Gilbert F, Balaban G, Moorhead P, Bianchi D, Schlesinger H (1982) Abnormalities of chromosome 1p in human neuroblastoma tumors and cell lines. Cancer Genet Cytogenet 7:33–42 Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG (2003) Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 72:1200–1212 Hofmann WK, Takeuchi S, Xie D, Miller CW, Hoelzer D, Koeffler HP (2001) Frequent loss of heterozygosity in the region of D1S450 at 1p36.2 in myelodysplastic syndromes. Leuk Res 25:855–858 Hubbard T, Barker D, Birney E, Cameron G, Chen Y, Clark L, Cox T, Cuff J, Curwen V, Down T, Durbin R, Eyras E, Gilbert J, Hammond M, Huminiecki L, Kasprzyk A, Lehvaslaiho H, Lijnzaad P, Melsopp C, Mongin E, Pettett R, Pocock M, Potter S, Rust A, Schmidt E, Searle S, Slater G, Smith J, Spooner W, Stabenau A, Stalker J, Stupka E, Ureta-Vidal A, Vastrik I, Clamp M (2002) The Ensembl genome database project. Nucleic Acids Res 30:38–41 Inokuchi K, Hamaguchi H, Taniwaki M, Yamaguchi H, Tanosaki S, Dan K (2001) Establishment of a cell line with AML1-MTG8, TP53, and TP73 abnormalities from acute myelogenous leukemia. Genes Chromosomes Cancer 32:182–187 Ji Y, Eichler EE, Schwartz S, Nicholls RD (2000) Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 10:597–610 Johansson B, Billstrom R, Broberg K, Fioretos T, Nilsson PG, Ahlgren T, Malm C, Samuelsson BO, Mitelman F (1999) Cytogenetic polyclonality in hematologic malignancies. Genes Chromosomes Cancer 24:222–229 Jost CA, Marin MC, Kaelin WG Jr (1997) p73 is a simian [correction of human] p53-related protein that can induce apoptosis. Nature 389:191–194 Lahortiga I, Agirre X, Belloni E, Vazquez I, Larrayoz MJ, Gasparini P, Coco FL, Pelicci PG, Calasanz MJ, Odero MD (2004) Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells. Oncogene 23:311–316 Lestou VS, Ludkovski O, Connors JM, Gascoyne RD, Lam WL, Horsman DE (2003) Characterization of the recurrent translocation t(1;1)(p36.3;q21.1-2) in non-Hodgkin lymphoma by multicolor banding and fluorescence in situ hybridization analysis. Genes Chromosomes Cancer 36:375–381 Levine EG, Arthur DC, Frizzera G, Peterson BA, Hurd DD, Bloomfield CD (1988) Cytogenetic abnormalities predict clinical outcome in non-Hodgkin lymphoma. Ann Intern Med 108:14–20 Maris JM, Weiss MJ, Guo C, Gerbing RB, Stram DO, White PS, Hogarty MD, Sulman EP, Thompson PM, Lukens JN, Matthay KK, Seeger RC, Brodeur GM (2000) Loss of heterozygosity at 1p36 independently predicts for disease progression but not decreased overall survival probability in neuroblastoma patients: a Children’s Cancer Group study. J Clin Oncol 18:1888–1899 Martinsson T, Sjoberg RM, Hedborg F, Kogner P (1995) Deletion of chromosome 1p loci and microsatellite instability in neuroblastomas analyzed with short-tandem repeat polymorphisms. Cancer Res 55:5681–5686 Mitelman F (ed) (1995) ISCN (1995) An international system for human cytogenetic nomenclature. Karger, Basel Mitelman F (2000) Recurrent chromosome aberrations in cancer. Mutat Res 462:247–253 Mitelman F, Mertens F, Johansson B (1997) A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nat Genet 15:417–474 Mitelman F, Johansson B, Mertens F (eds) (2003) Mitelman database of chromosome aberrations in cancer. http://cgap.nci.nih.gov/Chromosomes/Mitelman Mori N, Morosetti R, Spira S, Lee S, Ben-Yehuda D, Schiller G, Landolfi R, Mizoguchi H, Koeffler HP (1998) Chromosome band 1p36 contains a putative tumor suppressor gene important in the evolution of chronic myelocytic leukemia. Blood 92:3405–3409 Mori N, Morosetti R, Mizoguchi H, Koeffler HP (2003) Progression of myelodysplastic syndrome: allelic loss on chromosomal arm 1p. Br J Haematol 122:226–230 Odero MD, Carlson K, Calasanz MJ, Lahortiga I, Chinwalla V, Rowley JD (2001) Identification of new translocations involving ETV6 in hematologic malignancies by fluorescence in situ hybridization and spectral karyotyping. Genes Chromosomes Cancer 31:134–142 Odero MD, Vizmanos JL, Roman JP, Lahortiga I, Panizo C, Calasanz MJ, Zeleznik-Le NJ, Rowley JD, Novo FJ (2002) A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. Genes Chromosomes Cancer 35:11–19 Offit K, Wong G, Filippa DA, Tao Y, Chaganti RS (1991) Cytogenetic analysis of 434 consecutively ascertained specimens of non-Hodgkin’s lymphoma: clinical correlations. Blood 77:1508–1515 Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW (2001) A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29:321–325 Pujana MA, Nadal M, Gratacos M, Peral B, Csiszar K, Gonzalez-Sarmiento R, Sumoy L, Estivill X (2001) Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11–q13, 15q24, and 15q26. Genome Res 11:98–111 Rice P, Longden I, Bleasby A (2000) EMBOSS: the European molecular biology open software suite. Trends Genet 16:276–277 Rowley JD (1999) The role of chromosome translocations in leukemogenesis. Semin Hematol 36:59–72 Saglio G, Storlazzi CT, Giugliano E, Surace C, Anelli L, Rege-Cambrin G, Zagaria A, Jimenez Velasco A, Heiniger A, Scaravaglio P, Torres Gomez A, Roman Gomez J, Archidiacono N, Banfi S, Rocchi M (2002) A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation. Proc Natl Acad Sci USA 99:9882–9887 Schutte BC, Carpten JD, Forus A, Gregory SG, Horii A, White PS (2001) Report and abstracts of the Sixth International Workshop on Human Chromosome 1 Mapping 2000, Iowa City, Iowa, USA 30 September-3 October 2000. Cytogenet Cell Genet 92:23–41 Shaffer LG, Heilstedt HA (2001) Terminal deletion of 1p36. Lancet 358:S9 Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG (1997) Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61:642–650 Shimizu S, Suzukawa K, Kodera T, Nagasawa T, Abe T, Taniwaki M, Yagasaki F, Tanaka H, Fujisawa S, Johansson B, Ahlgren T, Yokota J, Morishita K (2000) Identification of breakpoint cluster regions at 1p36.3 and 3q21 in hematologic malignancies with t(1;3)(p36;q21). Genes Chromosomes Cancer 27:229–238 Spieker N, Beitsma M, Van Sluis P, Chan A, Caron H, Versteeg R (2001) Three chromosomal rearrangements in neuroblastoma cluster within a 300-kb region on 1p36.1. Genes Chromosomes Cancer 31:172–181 Varga AE, Dobrovic A, Webb GC, Hutchinson R (2001) Clustering of 1p36 breakpoints distal to 1p36.2 in hematological malignancies. Cancer Genet Cytogenet 125:78–79 Weith A, Martinsson T, Cziepluch C, Bruderlein S, Amler LC, Berthold F, Schwab M (1989) Neuroblastoma consensus deletion maps to 1p36.1-2. Genes Chromosomes Cancer 1:159–166 Weith A, Brodeur GM, Bruns GA, Matise TC, Mischke D, Nizetic D, Seldin MF, Roy N van, Vance J (1996) Report of the Second International Workshop on Human Chromosome 1 Mapping 1995. Cytogenet Cell Genet 72:114–144 White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M, Kaufman BA, Biegel JA, Allen C, Hilliard C, et al (1995) A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. Proc Natl Acad Sci USA 92:5520–5524