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Hyperploidy

MedGen UID:
266278
•Concept ID:
C1305143
•
Cell or Molecular Dysfunction
Synonym: Hyperdiploidy
SNOMED CT: Hyperploidy (55597007); Hyperdiploidy (55597007)

Definition

A chromosomal abnormality in which the chromosomal number is greater than the normal diploid number. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperploidy

Professional guidelines

PubMed

DNA ploidy and immunomarking of bladder urothelial tumors before and after intravesical bacillus Calmette-Guérin treatment.
Kyroudi-Voulgari A, Kouloukoussa M, Simigiatos C, Karakitsos P, Zervas A, Kittas C, Mitropoulos D
Anal Quant Cytol Histol 2005 Feb;27(1):52-60. PMID: 15794452
DNA analysis in the differential diagnosis of osteosarcoma.
Bauer HC, Kreicbergs A, Silfverswärd C, Tribukait B
Cancer 1988 Apr 1;61(7):1430-6. doi: 10.1002/1097-0142(19880401)61:7<1430::aid-cncr2820610725>3.0.co;2-m. PMID: 3422833
DNA analysis in the differential diagnosis of osteosarcoma.
Bauer HC, Kreicbergs A, Silfverswärd C, Tribukait B
Cancer 1988 Jun 15;61(12):2532-40. doi: 10.1002/1097-0142(19880615)61:12<2532::aid-cncr2820611224>3.0.co;2-h. PMID: 3163257

Recent clinical studies

Etiology

Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8.
Paulsson JO, Rafati N, DiLorenzo S, Chen Y, Haglund F, Zedenius J, Juhlin CC
J Clin Endocrinol Metab 2021 Oct 21;106(11):3265-3282. doi: 10.1210/clinem/dgab471. PMID: 34171097Free PMC Article
Genome amplification and cellular senescence are hallmarks of human placenta development.
Velicky P, Meinhardt G, Plessl K, Vondra S, Weiss T, Haslinger P, Lendl T, Aumayr K, Mairhofer M, Zhu X, Schütz B, Hannibal RL, Lindau R, Weil B, Ernerudh J, Neesen J, Egger G, Mikula M, Röhrl C, Urban AE, Baker J, Knöfler M, Pollheimer J
PLoS Genet 2018 Oct;14(10):e1007698. Epub 2018 Oct 12 doi: 10.1371/journal.pgen.1007698. PMID: 30312291Free PMC Article
Intrahepatic hepatitis B virus large surface antigen induces hepatocyte hyperploidy via failure of cytokinesis.
Li TN, Wu YJ, Tsai HW, Sun CP, Wu YH, Wu HL, Pei YN, Lu KY, Yen TT, Chang CW, Chan HL, Tao MH, Liou JY, Chang MD, Su IJ, Wang LH
J Pathol 2018 Aug;245(4):502-513. Epub 2018 Jul 4 doi: 10.1002/path.5102. PMID: 29862509
Chromosome 4 hyperploidy represents an early genetic aberration in premalignant Barrett's oesophagus.
Doak SH, Jenkins GJ, Parry EM, D'Souza FR, Griffiths AP, Toffazal N, Shah V, Baxter JN, Parry JM
Gut 2003 May;52(5):623-8. doi: 10.1136/gut.52.5.623. PMID: 12692043Free PMC Article
DNA cytometry of osteosarcoma.
Bauer HC
Acta Orthop Scand Suppl 1988;228:1-39. doi: 10.3109/17453678809154175. PMID: 3063059

Diagnosis

Structure and significance of cytogenetic abnormalities in adult patients with Ph-negative acute lymphoblastic leukemia.
Piskunova IS, Obukhova TN, Parovichnikova EN, Kulikov SM, Troitskaya VV, Gavrilina OA, Savchenko VG
Ter Arkh 2018 Aug 17;90(7):30-37. doi: 10.26442/terarkh201890730-37. PMID: 30701920
Malignant mesothelioma in situ.
Churg A, Hwang H, Tan L, Qing G, Taher A, Tong A, Bilawich AM, Dacic S
Histopathology 2018 May;72(6):1033-1038. Epub 2018 Feb 26 doi: 10.1111/his.13468. PMID: 29350783
Klinefelter's syndrome.
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E
Lancet 2004 Jul 17-23;364(9430):273-83. doi: 10.1016/S0140-6736(04)16678-6. PMID: 15262106
Poly(ADP-ribose) and carcinogenesis.
Masutani M, Nakagama H, Sugimura T
Genes Chromosomes Cancer 2003 Dec;38(4):339-48. doi: 10.1002/gcc.10250. PMID: 14566854
DNA cytometry of osteosarcoma.
Bauer HC
Acta Orthop Scand Suppl 1988;228:1-39. doi: 10.3109/17453678809154175. PMID: 3063059

Therapy

Structure and significance of cytogenetic abnormalities in adult patients with Ph-negative acute lymphoblastic leukemia.
Piskunova IS, Obukhova TN, Parovichnikova EN, Kulikov SM, Troitskaya VV, Gavrilina OA, Savchenko VG
Ter Arkh 2018 Aug 17;90(7):30-37. doi: 10.26442/terarkh201890730-37. PMID: 30701920
Cell trivision of hyperploid cells.
Nagy G, Kiraly G, Turani M, Banfalvi G
DNA Cell Biol 2013 Dec;32(12):676-84. Epub 2013 Oct 5 doi: 10.1089/dna.2013.2147. PMID: 24093497Free PMC Article
Therapy-related acute leukemia with mixed phenotype and t(9;22)(q32;q11.2): a case report and review of the literature.
Cho JH, Hur M, Moon HW, Yun YM, Ko YS, Kim WS, Lee MH
Hum Pathol 2012 Apr;43(4):605-9. Epub 2011 Oct 28 doi: 10.1016/j.humpath.2011.07.010. PMID: 22036054
Klinefelter's syndrome.
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E
Lancet 2004 Jul 17-23;364(9430):273-83. doi: 10.1016/S0140-6736(04)16678-6. PMID: 15262106
Genetic effects of petroleum fuels: II. Analysis of chromosome loss and hyperploidy in peripheral lymphocytes of gasoline station attendants.
Carere A, Antoccia A, Cimini D, Crebelli R, Degrassi F, Leopardi P, Marcon F, Sgura A, Tanzarella C, Zijno A
Environ Mol Mutagen 1998;32(2):130-8. PMID: 9776175

Prognosis

Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8.
Paulsson JO, Rafati N, DiLorenzo S, Chen Y, Haglund F, Zedenius J, Juhlin CC
J Clin Endocrinol Metab 2021 Oct 21;106(11):3265-3282. doi: 10.1210/clinem/dgab471. PMID: 34171097Free PMC Article
Structure and significance of cytogenetic abnormalities in adult patients with Ph-negative acute lymphoblastic leukemia.
Piskunova IS, Obukhova TN, Parovichnikova EN, Kulikov SM, Troitskaya VV, Gavrilina OA, Savchenko VG
Ter Arkh 2018 Aug 17;90(7):30-37. doi: 10.26442/terarkh201890730-37. PMID: 30701920
Malignant mesothelioma in situ.
Churg A, Hwang H, Tan L, Qing G, Taher A, Tong A, Bilawich AM, Dacic S
Histopathology 2018 May;72(6):1033-1038. Epub 2018 Feb 26 doi: 10.1111/his.13468. PMID: 29350783
Chromosome 4 hyperploidy represents an early genetic aberration in premalignant Barrett's oesophagus.
Doak SH, Jenkins GJ, Parry EM, D'Souza FR, Griffiths AP, Toffazal N, Shah V, Baxter JN, Parry JM
Gut 2003 May;52(5):623-8. doi: 10.1136/gut.52.5.623. PMID: 12692043Free PMC Article
DNA cytometry of osteosarcoma.
Bauer HC
Acta Orthop Scand Suppl 1988;228:1-39. doi: 10.3109/17453678809154175. PMID: 3063059

Clinical prediction guides

A cell-based model system links chromothripsis with hyperploidy.
Mardin BR, Drainas AP, Waszak SM, Weischenfeldt J, Isokane M, Stütz AM, Raeder B, Efthymiopoulos T, Buccitelli C, Segura-Wang M, Northcott P, Pfister SM, Lichter P, Ellenberg J, Korbel JO
Mol Syst Biol 2015 Sep 28;11(9):828. doi: 10.15252/msb.20156505. PMID: 26415501Free PMC Article
Preclinical validation of Aurora kinases-targeting drugs in osteosarcoma.
Tavanti E, Sero V, Vella S, Fanelli M, Michelacci F, Landuzzi L, Magagnoli G, Versteeg R, Picci P, Hattinger CM, Serra M
Br J Cancer 2013 Nov 12;109(10):2607-18. Epub 2013 Oct 15 doi: 10.1038/bjc.2013.643. PMID: 24129234Free PMC Article
DNA ploidy, nuclear size, proliferation index and DNA-hypomethylation in ovarian cancer.
Zeimet AG, Fiegl H, Goebel G, Kopp F, Allasia C, Reimer D, Steppan I, Mueller-Holzner E, Ehrlich M, Marth C
Gynecol Oncol 2011 Apr;121(1):24-31. Epub 2011 Jan 20 doi: 10.1016/j.ygyno.2010.12.332. PMID: 21251700Free PMC Article
Chromosome 4 hyperploidy represents an early genetic aberration in premalignant Barrett's oesophagus.
Doak SH, Jenkins GJ, Parry EM, D'Souza FR, Griffiths AP, Toffazal N, Shah V, Baxter JN, Parry JM
Gut 2003 May;52(5):623-8. doi: 10.1136/gut.52.5.623. PMID: 12692043Free PMC Article
DNA ploidy and vimentin expression in primary breast cancer.
Ioakim-Liossi A, Karakitsos P, Markopoulos C, Aroni K, Gogas J, Kyrkou K
Cytopathology 1995 Oct;6(5):325-30. doi: 10.1111/j.1365-2303.1995.tb00578.x. PMID: 8785370

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