title: Chromosome 1 abnormalities in myeloid malignancies: a literature survey and karyotype-phenotype associations.
abstract: Chromosome 1 is the largest human chromosome and contains over 1600 known genes and 1000 novel coding sequences or transcripts. It is, therefore, not surprising that recurrent chromosome 1 abnormalities are regularly encountered in both neoplastic and non-neoplastic medical conditions. The current review is focused on myeloid malignancies where we summarize the relevant published literature and discuss specific karyotype-phenotype associations. We show that chromosome 1 abnormalities are most frequent in BCR-ABL-negative classic myeloproliferative neoplasms (MPN): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Specific abnormalities include duplications (e.g. 1q12-->1q32 in PV, 1q21-32-->1q32-44 in post-PV MF or PMF), deletions (e.g. 1p13-36-->pter in PV or PMF, 1q21 in PMF) and unbalanced translocations involving chromosome 6, such as der(6)t(1;6)(q21-25;p21.3-23), and other partner chromosomes involving 1q10/1p11 and 1q21-25 breakpoints. Although occasionally seen in chronic phase MPN, unbalanced 1;7 translocations, e.g. der(1;7)(q10;p10), are usually seen in acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and post-MPN AML/MDS. These observations suggest that certain chromosome 1 regions, especially 1q21-1q32 and 1p11-13, might harbor oncogenes or tumor suppressor genes that are pathogenetically relevant to both chronic and advanced phases of MPN.
authors.affiliation: Cattedra ed U.O. di Ematologia, Policlinico Universitario di Palermo, Palermo, Italy.
authors.forename: Domenica
authors.initials: D
authors.lastname: Caramazza
authors.forename: Kebede
authors.initials: K
authors.lastname: Hussein
authors.forename: Sergio
authors.initials: S
authors.lastname: Siragusa
authors.forename: Animesh
authors.initials: A
authors.lastname: Pardanani
authors.forename: Ryan A
authors.initials: RA
authors.lastname: Knudson
authors.forename: Rhett P
authors.initials: RP
authors.lastname: Ketterling
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
mesh_terms: D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics / Q000648:ultrastructure; D016147:Genes, Tumor Suppressor; D006801:Humans; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000235:genetics*; D009857:Oncogenes; D010641:Phenotype; D014178:Translocation, Genetic