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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

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
Polyploidy in prenatal genetic diagnosis.
Milunsky A, Atkins L, Littlefield JW
J Pediatr 1971 Aug;79(2):303-5. doi: 10.1016/s0022-3476(71)80120-8. PMID: 5560056

Recent clinical studies

Etiology

EYA4 promotes breast cancer progression and metastasis through its role in replication stress avoidance.
de la Peña Avalos B, Tropée R, Duijf PHG, Dray E
Mol Cancer 2023 Sep 30;22(1):158. doi: 10.1186/s12943-023-01861-4. PMID: 37777742Free 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

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
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
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
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

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
Targeting BCL2 Overcomes Resistance and Augments Response to Aurora Kinase B Inhibition by AZD2811 in Small Cell Lung Cancer.
Ramkumar K, Tanimoto A, Della Corte CM, Stewart CA, Wang Q, Shen L, Cardnell RJ, Wang J, Polanska UM, Andersen C, Saeh J, Pease JE, Travers J, Fabbri G, Gay CM, Urosevic J, Byers LA
Clin Cancer Res 2023 Aug 15;29(16):3237-3249. doi: 10.1158/1078-0432.CCR-23-0375. PMID: 37289191Free 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
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
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

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
Maintaining evolvability.
Crow JF
J Genet 2008 Dec;87(4):349-53. doi: 10.1007/s12041-008-0057-8. PMID: 19147924

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
Sequencing and Assembly of Polyploid Genomes.
Wang Y, Yu J, Jiang M, Lei W, Zhang X, Tang H
Methods Mol Biol 2023;2545:429-458. doi: 10.1007/978-1-0716-2561-3_23. PMID: 36720827
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
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
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

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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