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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Mini Review i(6)(p10) Marta Susana Gallego Laboratorio de Citogenetica - Servicio de Genetica - Hospital de Pediatria "Prof Dr JPGarrahan", Buenos Aires, Argentina (MSG) Published in Atlas Database: June 2008 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/i6p10ID1053.html DOI: 10.4267/2042/44495 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology Epidemiology Identity Isochromosomes are a nonrandom chromosomal anomaly in ALL. The incidence of i(6)(p10) in ALL is 0.07%. Only sixteen cases have been reported in ALL and only one in immunoblastic lymphoma. All the patients, except for one adult, were children with a median age of 5 years; sex ratio: 12M/5F. Clinics The clinical characteristics are virtually unknown. Prognosis Remains to be determined. The median survival of the reported cases varies from 7 to 40 months. Genetics Partial GTG banded karyotype showing i(6)(p10). Courtesy of Cytogenetics Laboratory, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.Clinics and pathology. Note It has been suggested that a central part of the short arm of chromosome 6p harbours one or more oncogenes directly involved in tumour progression. On the other hand, despite accumulating evidence those deletions of chromosomal bands 6q16-q21 are a critical event in ALL, no suppressor genes have been identified in this region. Recently, it has been described that a minimal deleted interval in 6q21 encompasses the FOXO3A, PRDM1 and HACE1 candidate genes. Disease Acute lymphoblastic leukemia (ALL) Phenotype/cell stem origin B-cell precursor (pro-B, exceptionally T ALL. common, pre-B) and Etiology It has been suggested that, although the isochromosomes are rarely the sole abnormality in the majority of cases, they do occur early in the leukemic process. Martineau et al. proposed that isochromosomes are mechanical indicators of genetic events central to the etiology of the leukemia. Atlas Genet Cytogenet Oncol Haematol. 2009; 13(6) Cytogenetics Note The isochromosome 6p was found in the stemline in 12 cases and in a sideline in 5 cases. It was associated with 434 i(6)(p10) Gallego MS Isochromosomes in childhood acute lymphoblastic leukemia: a collaborative study of 83 cases. Blood. 1992 May 1;79(9):2384-91 pseudo, hyper and hypodiploidies and high ploidies. It occured more frequently at diagnosis than at relapse. Cytogenetics molecular Nylund SJ, Ruutu T, Saarinen U, Knuutila S. Metaphase fluorescence in situ hybridization (FISH) in the follow-up of 60 patients with haemopoietic malignancies. Br J Haematol. 1994 Dec;88(4):778-83 Comparative genomic hybridisation studies have detected copy-number increases affecting chromosome 6p in several types of cancer. Cavé H, Gérard B, Martin E, Guidal C, Devaux I, Weissenbach J, Elion J, Vilmer E, Grandchamp B. Loss of heterozygosity in the chromosomal region 12p12-13 is very common in childhood acute lymphoblastic leukemia and permits the precise localization of a tumor-suppressor gene distinct from p27KIP1. Blood. 1995 Nov 15;86(10):3869-75 Additional anomalies The isochromosome 6p was not observed as a sole anomaly. The majority of cases are part of a complex karyotype and some cases occur with established abnormalities such as der(19)t(1;19), t(12;21)(p13;q22) and t(14;18)(q32;q21). Chucrallah AE, Stass SA, Huh YO, Albitar M, Kantarjian HM. Adult acute lymphoblastic leukemia at relapse. Cytogenetic, immunophenotypic, and molecular changes. Cancer. 1995 Sep 15;76(6):985-91 Genes involved and proteins Scaravaglio P, Saglio G, Geuna M, Palestro G, Guglielmelli T, Rege-Cambrin G. Isochromosome 6p and deletion of 6q characterize two related cytogenetic clones in a patient with immunoblastic lymphoma. Cancer Genet Cytogenet. 1995 Jun;81(2):179-81 Note Not yet defined. Result of the chromosomal anomaly Martineau M, Clark R, Farrell DM, Hawkins JM, Moorman AV, Secker-Walker LM. Isochromosomes in acute lymphoblastic leukaemia: i(21q) is a significant finding. Genes Chromosomes Cancer. 1996 Sep;17(1):21-30 Hybrid gene Gutiérrez-Angulo M, González-García JR, Meza-Espinoza JP, Picos-Cárdenas VJ, Esparza-Flores MA, López-Guido B, Rivera H. Increased expression of AML1-a and acquired chromosomal abnormalities in childhood acute lymphoblastic leukemia. Hematol Oncol. 2004 Sep;22(3):85-90 Note As a result of the formation of the isochromosome, the structural abnormality results in monosomy for the genes on the long arm, and trisomy for the genes in the short arm. It is not known whether the overexpression of a proto-oncogene or the deletion of a tumoursuppressor gene from the isochromosome contributes to development of proliferation of leukaemia. Kovacs BZ, Niggli FK, Betts DR. Aberrations involving 13q12 approximately q14 are frequent secondary events in childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2004 Jun;151(2):157-61 Kaneko Y, Rowley JD, Variakojis D, Chilcote RR, Check I, Sakurai M. Correlation of karyotype with clinical features in acute lymphoblastic leukemia. Cancer Res. 1982 Jul;42(7):2918-29 Pérez-Vera P, Montero-Ruiz O, Frías S, Ulloa-Avilés V, Cárdenas-Cardós R, Paredes-Aguilera R, Rivera-Luna R, Carnevale A. Detection of ETV6 and RUNX1 gene rearrangements using fluorescence in situ hybridization in Mexican patients with acute lymphoblastic leukemia: experience at a single institution. Cancer Genet Cytogenet. 2005 Oct 15;162(2):140-5 Prigogina EL, Puchkova GP, Mayakova SA. Nonrandom chromosomal abnormalities in acute lymphoblastic leukemia of childhood. Cancer Genet Cytogenet. 1988 Jun;32(2):183-203 Santos GC, Zielenska M, Prasad M, Squire JA. Chromosome 6p amplification and cancer progression. J Clin Pathol. 2007 Jan;60(1):1-7 Uckun FM, Gajl-Peczalska KJ, Provisor AJ, Heerema NA. Immunophenotype-karyotype associations in human acute lymphoblastic leukemia. Blood. 1989 Jan;73(1):271-80 Thelander EF, Ichimura K, Corcoran M, Barbany G, Nordgren A, Heyman M, Berglund M, Mungall A, Rosenquist R, Collins VP, Grandér D, Larsson C, Lagercrantz S. Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia. Leuk Lymphoma. 2008 Mar;49(3):47787 References Abshire TC, Buchanan GR, Jackson JF, Shuster JJ, Brock B, Head D, Behm F, Crist WM, Link M, Borowitz M. Morphologic, immunologic and cytogenetic studies in children with acute lymphoblastic leukemia at diagnosis and relapse: a Pediatric Oncology Group study. Leukemia. 1992 May;6(5):357-62 This article should be referenced as such: Gallego MS. i(6)(p10). Atlas Genet Cytogenet Oncol Haematol. 2009; 13(6):434-435. Pui CH, Carroll AJ, Raimondi SC, Schell MJ, Head DR, Shuster JJ, Crist WM, Borowitz MJ, Link MP, Behm FG. Atlas Genet Cytogenet Oncol Haematol. 2009; 13(6) 435