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Polyploidy

MedGen UID:
18567
•Concept ID:
C0032578
•
Cell or Molecular Dysfunction
Synonyms: Polyploid; Polyploidies; Polyploids
SNOMED CT: Polyploidy syndrome (72991005); Polyploidy (72991005); Polyploidy (48099008)
 
Monarch Initiative: MONDO:0019934
Orphanet: ORPHA96321

Definition

A numerical chromosomal abnormality characterized by the presence of more than two sets of chromosomes. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

The Polo-like kinase 1 inhibitor onvansertib represents a relevant treatment for head and neck squamous cell carcinoma resistant to cisplatin and radiotherapy.
Hagege A, Ambrosetti D, Boyer J, Bozec A, Doyen J, Chamorey E, He X, Bourget I, Rousset J, Saada E, Rastoin O, Parola J, Luciano F, Cao Y, Pagès G, Dufies M
Theranostics 2021;11(19):9571-9586. Epub 2021 Sep 21 doi: 10.7150/thno.61711. PMID: 34646387Free PMC Article
Genetic testing on products of conception and its relationship with body mass index.
Wang L, Xu J, Niu W, Hu L, Zhang Y, Sun Y
J Assist Reprod Genet 2020 Aug;37(8):1853-1860. Epub 2020 Jun 9 doi: 10.1007/s10815-020-01849-9. PMID: 32519011Free PMC Article
Selective enhancing effect of early mitotic inhibitor 1 (Emi1) depletion on the sensitivity of doxorubicin or X-ray treatment in human cancer cells.
Shimizu N, Nakajima NI, Tsunematsu T, Ogawa I, Kawai H, Hirayama R, Fujimori A, Yamada A, Okayasu R, Ishimaru N, Takata T, Kudo Y
J Biol Chem 2013 Jun 14;288(24):17238-52. Epub 2013 May 3 doi: 10.1074/jbc.M112.446351. PMID: 23645673Free PMC Article

Recent clinical studies

Etiology

Molecular Mechanisms and Biomarkers Associated with Chemotherapy-Induced AKI.
De Chiara L, Lugli G, Villa G, Raglianti V, Husain-Syed F, Ravaglia F, Romagnani P, Lazzeri E
Int J Mol Sci 2022 Feb 27;23(5) doi: 10.3390/ijms23052638. PMID: 35269781Free PMC Article
AMPK-mTOR-Mediated Activation of Autophagy Promotes Formation of Dormant Polyploid Giant Cancer Cells.
You B, Xia T, Gu M, Zhang Z, Zhang Q, Shen J, Fan Y, Yao H, Pan S, Lu Y, Cheng T, Yang Z, He X, Zhang H, Shi M, Liu D, You Y
Cancer Res 2022 Mar 1;82(5):846-858. doi: 10.1158/0008-5472.CAN-21-2342. PMID: 34965934Free PMC Article
Recurrent Cytogenetic Abnormalities in Multiple Myeloma.
Chan NC, Chan NP
Methods Mol Biol 2017;1541:295-302. doi: 10.1007/978-1-4939-6703-2_23. PMID: 27910031
Centrosomes, polyploidy and cancer.
Duensing A, Duensing S
Adv Exp Med Biol 2010;676:93-103. doi: 10.1007/978-1-4419-6199-0_6. PMID: 20687471
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

Diagnosis

Single-cell morphological and transcriptome analysis unveil inhibitors of polyploid giant breast cancer cells in vitro.
Zhou M, Ma Y, Chiang CC, Rock EC, Butler SC, Anne R, Yatsenko S, Gong Y, Chen YC
Commun Biol 2023 Dec 21;6(1):1301. doi: 10.1038/s42003-023-05674-5. PMID: 38129519Free PMC Article
Molecular Mechanisms and Biomarkers Associated with Chemotherapy-Induced AKI.
De Chiara L, Lugli G, Villa G, Raglianti V, Husain-Syed F, Ravaglia F, Romagnani P, Lazzeri E
Int J Mol Sci 2022 Feb 27;23(5) doi: 10.3390/ijms23052638. PMID: 35269781Free PMC Article
Recurrent Cytogenetic Abnormalities in Multiple Myeloma.
Chan NC, Chan NP
Methods Mol Biol 2017;1541:295-302. doi: 10.1007/978-1-4939-6703-2_23. PMID: 27910031
Anatomical and clinical aspects of Klinefelter's syndrome.
Bird RJ, Hurren BJ
Clin Anat 2016 Jul;29(5):606-19. Epub 2016 Feb 21 doi: 10.1002/ca.22695. PMID: 26823086
Recurrent aneuploidy--fact or fiction.
Cohen R, Check JH
Clin Exp Obstet Gynecol 2010;37(3):175-7. PMID: 21077516

Therapy

Targeting polyploid giant cancer cells potentiates a therapeutic response and overcomes resistance to PARP inhibitors in ovarian cancer.
Zhang X, Yao J, Li X, Niu N, Liu Y, Hajek RA, Peng G, Westin S, Sood AK, Liu J
Sci Adv 2023 Jul 21;9(29):eadf7195. doi: 10.1126/sciadv.adf7195. PMID: 37478190Free PMC Article
Molecular Mechanisms and Biomarkers Associated with Chemotherapy-Induced AKI.
De Chiara L, Lugli G, Villa G, Raglianti V, Husain-Syed F, Ravaglia F, Romagnani P, Lazzeri E
Int J Mol Sci 2022 Feb 27;23(5) doi: 10.3390/ijms23052638. PMID: 35269781Free PMC Article
MDM2 Antagonists Counteract Drug-Induced DNA Damage.
Vilgelm AE, Cobb P, Malikayil K, Flaherty D, Andrew Johnson C, Raman D, Saleh N, Higgins B, Vara BA, Johnston JN, Johnson DB, Kelley MC, Chen SC, Ayers GD, Richmond A
EBioMedicine 2017 Oct;24:43-55. Epub 2017 Sep 19 doi: 10.1016/j.ebiom.2017.09.016. PMID: 29030058Free PMC Article
Consequences of mitotic slippage for antimicrotubule drug therapy.
Cheng B, Crasta K
Endocr Relat Cancer 2017 Sep;24(9):T97-T106. Epub 2017 Jul 6 doi: 10.1530/ERC-17-0147. PMID: 28684541
Docetaxel-induced polyploidization may underlie chemoresistance and disease relapse.
Ogden A, Rida PC, Knudsen BS, Kucuk O, Aneja R
Cancer Lett 2015 Oct 28;367(2):89-92. Epub 2015 Jul 13 doi: 10.1016/j.canlet.2015.06.025. PMID: 26185000Free PMC Article

Prognosis

Intratumor Mycoplasma promotes the initiation and progression of hepatocellular carcinoma.
Qiao K, Han J, Zhang H, Li Y, Hou X, Jia Y, Sun Y, Wang H, Xu Z, Liu H, Zhang H, Liu H, Zhang W, Sun T
Cell Rep 2023 Dec 26;42(12):113563. Epub 2023 Dec 12 doi: 10.1016/j.celrep.2023.113563. PMID: 38088929
Tubular cell polyploidy protects from lethal acute kidney injury but promotes consequent chronic kidney disease.
De Chiara L, Conte C, Semeraro R, Diaz-Bulnes P, Angelotti ML, Mazzinghi B, Molli A, Antonelli G, Landini S, Melica ME, Peired AJ, Maggi L, Donati M, La Regina G, Allinovi M, Ravaglia F, Guasti D, Bani D, Cirillo L, Becherucci F, Guzzi F, Magi A, Annunziato F, Lasagni L, Anders HJ, Lazzeri E, Romagnani P
Nat Commun 2022 Oct 4;13(1):5805. doi: 10.1038/s41467-022-33110-5. PMID: 36195583Free PMC Article
Caspase-2 as a master regulator of genomic stability.
Kopeina GS, Zhivotovsky B
Trends Cell Biol 2021 Sep;31(9):712-720. Epub 2021 Mar 19 doi: 10.1016/j.tcb.2021.03.002. PMID: 33752921
Hepatocyte polyploidization and its association with pathophysiological processes.
Wang MJ, Chen F, Lau JTY, Hu YP
Cell Death Dis 2017 May 18;8(5):e2805. doi: 10.1038/cddis.2017.167. PMID: 28518148Free PMC Article
Recurrent Cytogenetic Abnormalities in Multiple Myeloma.
Chan NC, Chan NP
Methods Mol Biol 2017;1541:295-302. doi: 10.1007/978-1-4939-6703-2_23. PMID: 27910031

Clinical prediction guides

Intratumor Mycoplasma promotes the initiation and progression of hepatocellular carcinoma.
Qiao K, Han J, Zhang H, Li Y, Hou X, Jia Y, Sun Y, Wang H, Xu Z, Liu H, Zhang H, Liu H, Zhang W, Sun T
Cell Rep 2023 Dec 26;42(12):113563. Epub 2023 Dec 12 doi: 10.1016/j.celrep.2023.113563. PMID: 38088929
Polyploidization in liver tissue.
Gentric G, Desdouets C
Am J Pathol 2014 Feb;184(2):322-31. Epub 2013 Oct 17 doi: 10.1016/j.ajpath.2013.06.035. PMID: 24140012
Polyploidy and liver proliferation.
Gentric G, Celton-Morizur S, Desdouets C
Clin Res Hepatol Gastroenterol 2012 Feb;36(1):29-34. Epub 2011 Jul 21 doi: 10.1016/j.clinre.2011.05.011. PMID: 21778131
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
Endomitosis: a reappraisal.
Therman E, Sarto GE, Stubblefield PA
Hum Genet 1983;63(1):13-8. doi: 10.1007/BF00285390. PMID: 6187660

Recent systematic reviews

The Molecular Mechanisms of Actions, Effects, and Clinical Implications of PARP Inhibitors in Epithelial Ovarian Cancers: A Systematic Review.
Lau CH, Seow KM, Chen KH
Int J Mol Sci 2022 Jul 23;23(15) doi: 10.3390/ijms23158125. PMID: 35897700Free PMC Article
Impact of genome duplication on secondary metabolite composition in non-cultivated species: a systematic meta-analysis.
Gaynor ML, Lim-Hing S, Mason CM
Ann Bot 2020 Aug 13;126(3):363-376. doi: 10.1093/aob/mcaa107. PMID: 32504537Free PMC Article
Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis.
Chen H, Liu K, Chen LJ, Hou P, Chen W, Pang CP
Mol Vis 2012;18:816-29. Epub 2012 Apr 4 PMID: 22509112Free PMC Article

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