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Tetraploidy

MedGen UID:
137689
•Concept ID:
C0333694
•
Cell or Molecular Dysfunction
Synonyms: Tetraploid; Tetraploidies; Tetraploids
SNOMED CT: Tetraploidy (62749002); Tetraploidy (726363000)

Definition

A numerical chromosomal abnormality characterized by the presence of four complete sets of chromosomes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTetraploidy
Follow this link to review classifications for Tetraploidy in Orphanet.

Professional guidelines

PubMed

Exploring the molecular pathogenesis, diagnosis and treatment of fibrolamellar hepatocellular carcinoma: A state of art review of the current literature.
Alshareefy Y, Shen CY, Prekash RJ
Pathol Res Pract 2023 Aug;248:154655. Epub 2023 Jun 26 doi: 10.1016/j.prp.2023.154655. PMID: 37429175
The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women.
Demirhan O, Pazarbaşı A, Güzel Aİ, Taştemir D, Yilmaz B, Kasap M, Özgünen FT, Evrüke C, Demir C, Tunç E, Kocatürk-Sel S, Onatoğlu-Arikan D, Koç S, Özer O, İnandiklioğlu N
Genet Test Mol Biomarkers 2011 Oct;15(10):701-7. Epub 2011 Jun 23 doi: 10.1089/gtmb.2010.0171. PMID: 21699408
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.
Rhoads GG, Jackson LG, Schlesselman SE, de la Cruz FF, Desnick RJ, Golbus MS, Ledbetter DH, Lubs HA, Mahoney MJ, Pergament E
N Engl J Med 1989 Mar 9;320(10):609-17. doi: 10.1056/NEJM198903093201001. PMID: 2645520

Recent clinical studies

Etiology

Colorectal cancer: role of commensal bacteria and bystander effects.
Wang X, Huycke MM
Gut Microbes 2015;6(6):370-6. doi: 10.1080/19490976.2015.1103426. PMID: 26727419Free PMC Article
Polyploidy, aneuploidy and the evolution of cancer.
Merlo LM, Wang LS, Pepper JW, Rabinovitch PS, Maley CC
Adv Exp Med Biol 2010;676:1-13. doi: 10.1007/978-1-4419-6199-0_1. PMID: 20687466
Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy.
Chen CP
Taiwan J Obstet Gynecol 2007 Dec;46(4):325-35. doi: 10.1016/S1028-4559(08)60002-9. PMID: 18182338
Barrett's esophagus and its progression to adenocarcinoma.
Maley CC, Rustgi AK
J Natl Compr Canc Netw 2006 Apr;4(4):367-74. doi: 10.6004/jnccn.2006.0031. PMID: 16569389
Linear hypopigmentation and hyperpigmentation, including mosaicism.
Loomis CA
Semin Cutan Med Surg 1997 Mar;16(1):44-53. doi: 10.1016/s1085-5629(97)80035-1. PMID: 9125765

Diagnosis

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J, Steiner N
Eur J Haematol 2023 Mar;110(3):296-304. Epub 2022 Dec 4 doi: 10.1111/ejh.13905. PMID: 36433728Free PMC Article
Medulloblastomics: the end of the beginning.
Northcott PA, Jones DT, Kool M, Robinson GW, Gilbertson RJ, Cho YJ, Pomeroy SL, Korshunov A, Lichter P, Taylor MD, Pfister SM
Nat Rev Cancer 2012 Dec;12(12):818-34. doi: 10.1038/nrc3410. PMID: 23175120Free PMC Article
Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy.
Chen CP
Taiwan J Obstet Gynecol 2007 Dec;46(4):325-35. doi: 10.1016/S1028-4559(08)60002-9. PMID: 18182338
Prenatal diagnosis of tetraploidy.
Sagot P, Nomballais MF, David A, Yvinec M, Beaujard MP, Barrière P, Boog G
Fetal Diagn Ther 1993 May-Jun;8(3):182-6. doi: 10.1159/000263822. PMID: 8240691
A liveborn infant with tetraploidy.
Lafer CZ, Neu RL
Am J Med Genet 1988 Oct;31(2):375-8. doi: 10.1002/ajmg.1320310215. PMID: 3068989

Therapy

The Effect of Circumscribed Exposure to the Pan-Aurora Kinase Inhibitor VX-680 on Proliferating Euploid Cells.
Liu X, Shi Q, Choudhry N, Zhang T, Liu H, Zhang S, Zhang J, Yang D
Int J Mol Sci 2022 Oct 11;23(20) doi: 10.3390/ijms232012104. PMID: 36292957Free PMC Article
Janus Face of Drug-Induced Tetraploidy in Non-Hodgkin Lymphoma.
Mahadevan D, Rogers GC
Trends Cancer 2020 Aug;6(8):627-630. Epub 2020 Apr 11 doi: 10.1016/j.trecan.2020.03.009. PMID: 32291237
Losmapimod Overcomes Gefitinib Resistance in Non-small Cell Lung Cancer by Preventing Tetraploidization.
Yeung YT, Yin S, Lu B, Fan S, Yang R, Bai R, Zhang C, Bode AM, Liu K, Dong Z
EBioMedicine 2018 Feb;28:51-61. Epub 2018 Feb 2 doi: 10.1016/j.ebiom.2018.01.017. PMID: 29398601Free PMC Article
Tetraploidy acute promyelocytic leuemia with double t(15;17)/PML-RARA, a case report with review of literature.
Dalia SM, Horna P, Zhang L
Int J Clin Exp Pathol 2014;7(8):5363-8. Epub 2014 Jul 15 PMID: 25197424Free PMC Article
Philadelphia chromosome-positive acute myeloid leukemia with tetraploidy.
Yamaguchi H, Inokuchi K, Yokomizo E, Miyata J, Watanabe A, Inami M, Tajika K, Dan K
Int J Hematol 2002 Jan;75(1):63-6. doi: 10.1007/BF02981981. PMID: 11843293

Prognosis

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J, Steiner N
Eur J Haematol 2023 Mar;110(3):296-304. Epub 2022 Dec 4 doi: 10.1111/ejh.13905. PMID: 36433728Free PMC Article
Population structure and genetic variation of fragmented mountain birch forests in Iceland.
Pálsson S, Wasowicz P, Heiðmarsson S, Magnússon KP
J Hered 2023 Apr 6;114(2):165-174. doi: 10.1093/jhered/esac062. PMID: 36331896Free PMC Article
Too MAD or not MAD enough: The duplicitous role of the spindle assembly checkpoint protein MAD2 in cancer.
Bates M, Furlong F, Gallagher MF, Spillane CD, McCann A, O'Toole S, O'Leary JJ
Cancer Lett 2020 Jan 28;469:11-21. Epub 2019 Oct 5 doi: 10.1016/j.canlet.2019.10.005. PMID: 31593803
A novel hypothesis for Alzheimer disease based on neuronal tetraploidy induced by p75 (NTR).
Frade JM, López-Sánchez N
Cell Cycle 2010 May 15;9(10):1934-41. doi: 10.4161/cc.9.10.11582. PMID: 20436277
Linear hypopigmentation and hyperpigmentation, including mosaicism.
Loomis CA
Semin Cutan Med Surg 1997 Mar;16(1):44-53. doi: 10.1016/s1085-5629(97)80035-1. PMID: 9125765

Clinical prediction guides

Population structure and genetic variation of fragmented mountain birch forests in Iceland.
Pálsson S, Wasowicz P, Heiðmarsson S, Magnússon KP
J Hered 2023 Apr 6;114(2):165-174. doi: 10.1093/jhered/esac062. PMID: 36331896Free PMC Article
Genetic abnormalities seen on CVS in early pregnancy failure.
Gimovsky AC, Pham A, Moreno SC, Nicholas S, Roman A, Weiner S
J Matern Fetal Neonatal Med 2020 Jul;33(13):2142-2147. Epub 2018 Nov 20 doi: 10.1080/14767058.2018.1542677. PMID: 30373416
Immunoglobulin isotypes in Atlantic salmon, Salmo salar.
Hordvik I
Biomolecules 2015 Feb 27;5(1):166-77. doi: 10.3390/biom5010166. PMID: 25734583Free PMC Article
A novel hypothesis for Alzheimer disease based on neuronal tetraploidy induced by p75 (NTR).
Frade JM, López-Sánchez N
Cell Cycle 2010 May 15;9(10):1934-41. doi: 10.4161/cc.9.10.11582. PMID: 20436277
The consequences of tetraploidy and aneuploidy.
Storchova Z, Kuffer C
J Cell Sci 2008 Dec 1;121(Pt 23):3859-66. doi: 10.1242/jcs.039537. PMID: 19020304

Recent systematic reviews

The prognostic implications of tetraploidy/near-Tetraploidy in acute myeloid leukemia: a case series and systematic review of the literature.
Xie J, Nachabe A, Hathaway LJ, Farah B, Berbari B, Li Y, Brown TC, Schmid JL, Socola F, Saba NS, Safah H
Leuk Lymphoma 2021 Jan;62(1):203-210. Epub 2020 Sep 29 doi: 10.1080/10428194.2020.1817435. PMID: 32993375

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