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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

SOX9 Knockout Induces Polyploidy and Changes Sensitivity to Tumor Treatment Strategies in a Chondrosarcoma Cell Line.
Stöckl S, Lindner G, Li S, Schuster P, Haferkamp S, Wagner F, Prodinger PM, Multhoff G, Boxberg M, Hillmann A, Bauer RJ, Grässel S
Int J Mol Sci 2020 Oct 15;21(20) doi: 10.3390/ijms21207627. PMID: 33076370Free PMC Article
In vitro and in silico genetic toxicity screening of flavor compounds and other ingredients in tobacco products with emphasis on ENDS.
Hung PH, Savidge M, De M, Kang JC, Healy SM, Valerio LG Jr
J Appl Toxicol 2020 Nov;40(11):1566-1587. Epub 2020 Jul 13 doi: 10.1002/jat.4020. PMID: 32662109
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

Recent clinical studies

Etiology

Polyploidy as a Fundamental Phenomenon in Evolution, Development, Adaptation and Diseases.
Anatskaya OV, Vinogradov AE
Int J Mol Sci 2022 Mar 24;23(7) doi: 10.3390/ijms23073542. PMID: 35408902Free 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
Polyploidy and mutation in Arabidopsis.
Spoelhof JP, Soltis DE, Soltis PS
Evolution 2021 Sep;75(9):2299-2308. Epub 2021 Jul 19 doi: 10.1111/evo.14307. PMID: 34251678
The pancreatic cancer genome revisited.
Hayashi A, Hong J, Iacobuzio-Donahue CA
Nat Rev Gastroenterol Hepatol 2021 Jul;18(7):469-481. Epub 2021 Jun 4 doi: 10.1038/s41575-021-00463-z. PMID: 34089011
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

Diagnosis

Histological diagnosis of polyploidy discriminates an aggressive subset of hepatocellular carcinomas with poor prognosis.
Matsuura T, Ueda Y, Harada Y, Hayashi K, Horisaka K, Yano Y, So S, Kido M, Fukumoto T, Kodama Y, Hara E, Matsumoto T
Br J Cancer 2023 Oct;129(8):1251-1260. Epub 2023 Sep 15 doi: 10.1038/s41416-023-02408-6. PMID: 37715023Free PMC Article
Conserved chamber-specific polyploidy maintains heart function in Drosophila.
Chakraborty A, Peterson NG, King JS, Gross RT, Pla MM, Thennavan A, Zhou KC, DeLuca S, Bursac N, Bowles DE, Wolf MJ, Fox DT
Development 2023 Aug 15;150(16) Epub 2023 Aug 22 doi: 10.1242/dev.201896. PMID: 37526609Free 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
The pancreatic cancer genome revisited.
Hayashi A, Hong J, Iacobuzio-Donahue CA
Nat Rev Gastroenterol Hepatol 2021 Jul;18(7):469-481. Epub 2021 Jun 4 doi: 10.1038/s41575-021-00463-z. PMID: 34089011
New biological research and understanding of Papanicolaou's test.
Smith ER, George SH, Kobetz E, Xu XX
Diagn Cytopathol 2018 Jun;46(6):507-515. Epub 2018 Apr 16 doi: 10.1002/dc.23941. PMID: 29663734Free PMC Article

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
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
Targeting tumor cell senescence and polyploidy as potential therapeutic strategies.
Saleh T, Carpenter VJ, Bloukh S, Gewirtz DA
Semin Cancer Biol 2022 Jun;81:37-47. Epub 2020 Dec 20 doi: 10.1016/j.semcancer.2020.12.010. PMID: 33358748Free PMC Article
The C- and G-value paradox with polyploidy, repeatomes, introns, phenomes and cell economy.
Choi IY, Kwon EC, Kim NS
Genes Genomics 2020 Jul;42(7):699-714. Epub 2020 May 22 doi: 10.1007/s13258-020-00941-9. PMID: 32445179
Aneuploidy, polyploidy and ploidy reversal in the liver.
Duncan AW
Semin Cell Dev Biol 2013 Apr;24(4):347-56. Epub 2013 Jan 16 doi: 10.1016/j.semcdb.2013.01.003. PMID: 23333793

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
Advances in Intraoperative Flow Cytometry.
D'Amato Figueiredo MV, Alexiou GA, Vartholomatos G, Rehder R
Int J Mol Sci 2022 Nov 3;23(21) doi: 10.3390/ijms232113430. PMID: 36362215Free PMC Article
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
Therapy-induced polyploidization and senescence: Coincidence or interconnection?
Sikora E, Czarnecka-Herok J, Bojko A, Sunderland P
Semin Cancer Biol 2022 Jun;81:83-95. Epub 2020 Dec 1 doi: 10.1016/j.semcancer.2020.11.015. PMID: 33271316
Polyploidy control in hepatic health and disease.
Sladky VC, Eichin F, Reiberger T, Villunger A
J Hepatol 2021 Nov;75(5):1177-1191. Epub 2021 Jul 3 doi: 10.1016/j.jhep.2021.06.030. PMID: 34228992

Clinical prediction guides

Therapy-induced polyploidization and senescence: Coincidence or interconnection?
Sikora E, Czarnecka-Herok J, Bojko A, Sunderland P
Semin Cancer Biol 2022 Jun;81:83-95. Epub 2020 Dec 1 doi: 10.1016/j.semcancer.2020.11.015. PMID: 33271316
Polyploidy in liver development, homeostasis and disease.
Donne R, Saroul-Aïnama M, Cordier P, Celton-Morizur S, Desdouets C
Nat Rev Gastroenterol Hepatol 2020 Jul;17(7):391-405. Epub 2020 Apr 2 doi: 10.1038/s41575-020-0284-x. PMID: 32242122
The origins and functions of hepatic polyploidy.
Zhang S, Lin YH, Tarlow B, Zhu H
Cell Cycle 2019 Jun;18(12):1302-1315. Epub 2019 May 26 doi: 10.1080/15384101.2019.1618123. PMID: 31096847Free PMC Article
New biological research and understanding of Papanicolaou's test.
Smith ER, George SH, Kobetz E, Xu XX
Diagn Cytopathol 2018 Jun;46(6):507-515. Epub 2018 Apr 16 doi: 10.1002/dc.23941. PMID: 29663734Free PMC Article
The evolutionary significance of polyploidy.
Van de Peer Y, Mizrachi E, Marchal K
Nat Rev Genet 2017 Jul;18(7):411-424. Epub 2017 May 15 doi: 10.1038/nrg.2017.26. PMID: 28502977

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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