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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

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
Tetraploidy/near-tetraploidy acute myeloid leukemia.
Huang L, Wang SA, DiNardo C, Li S, Hu S, Xu J, Zhou W, Goswami M, Medeiros LJ, Tang G
Leuk Res 2017 Feb;53:20-27. Epub 2016 Dec 2 doi: 10.1016/j.leukres.2016.11.016. PMID: 27951415
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
Biomarkers in Barrett's esophagus.
Reid BJ, Blount PL, Rabinovitch PS
Gastrointest Endosc Clin N Am 2003 Apr;13(2):369-97. doi: 10.1016/s1052-5157(03)00006-0. PMID: 12916666

Diagnosis

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
Tetraploidy/near-tetraploidy acute myeloid leukemia.
Huang L, Wang SA, DiNardo C, Li S, Hu S, Xu J, Zhou W, Goswami M, Medeiros LJ, Tang G
Leuk Res 2017 Feb;53:20-27. Epub 2016 Dec 2 doi: 10.1016/j.leukres.2016.11.016. PMID: 27951415
Fluorescence In Situ Hybridization for Melanoma Diagnosis: A Review and a Reappraisal.
Ferrara G, De Vanna AC
Am J Dermatopathol 2016 Apr;38(4):253-69. doi: 10.1097/DAD.0000000000000380. PMID: 26999337
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

Therapy

Near-tetraploid T-cell acute lymphoblastic leukaemia in childhood: Results of the AIEOP-BFM ALL studies.
Ceppi F, Gotti G, Möricke A, Silvestri D, Poyer F, Lentes J, Bergmann A, Trka J, Alten J, Elitzur S, Barbaric D, Buldini B, Dell'Acqua F, Schumacher F, Casazza G, Tchinda J, Nebral K, Conter V, Attarbaschi A, Schrappe M
Eur J Cancer 2022 Nov;175:120-124. Epub 2022 Sep 13 doi: 10.1016/j.ejca.2022.08.013. PMID: 36113241
NSAID use and somatic exomic mutations in Barrett's esophagus.
Galipeau PC, Oman KM, Paulson TG, Sanchez CA, Zhang Q, Marty JA, Delrow JJ, Kuhner MK, Vaughan TL, Reid BJ, Li X
Genome Med 2018 Feb 27;10(1):17. doi: 10.1186/s13073-018-0520-y. PMID: 29486792Free PMC Article
UroVysion® multiprobe FISH in the triage of equivocal urinary cytology cases.
Bubendorf L, Piaton E
Ann Pathol 2012 Dec;32(6):e52-6, 438-43. Epub 2012 Nov 24 doi: 10.1016/j.annpat.2012.09.207. PMID: 23244486
Biomarkers in Barrett's esophagus.
Reid BJ, Blount PL, Rabinovitch PS
Gastrointest Endosc Clin N Am 2003 Apr;13(2):369-97. doi: 10.1016/s1052-5157(03)00006-0. PMID: 12916666
Chromosome studies in 500 induced abortions.
Yamamoto M, Fujimori R, Ito T, Kamimura K, Watanabe G
Humangenetik 1975 Aug 29;29(1):9-14. doi: 10.1007/BF00273345. PMID: 1176132

Prognosis

Tumor acidosis-induced DNA damage response and tetraploidy enhance sensitivity to ATM and ATR inhibitors.
Aubert L, Bastien E, Renoult O, Guilbaud C, Özkan K, Brusa D, Bouzin C, Richiardone E, Richard C, Boidot R, Léonard D, Corbet C, Feron O
EMBO Rep 2024 Mar;25(3):1469-1489. Epub 2024 Feb 16 doi: 10.1038/s44319-024-00089-7. PMID: 38366255Free PMC Article
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
Cytogenetic complexity and heterogeneity in intravascular lymphoma.
Fujikura K, Yamashita D, Yoshida M, Ishikawa T, Itoh T, Imai Y
J Clin Pathol 2021 Apr;74(4):244-250. Epub 2020 Aug 6 doi: 10.1136/jclinpath-2020-206573. PMID: 32763919
Tetraploidy/near-tetraploidy acute myeloid leukemia.
Huang L, Wang SA, DiNardo C, Li S, Hu S, Xu J, Zhou W, Goswami M, Medeiros LJ, Tang G
Leuk Res 2017 Feb;53:20-27. Epub 2016 Dec 2 doi: 10.1016/j.leukres.2016.11.016. PMID: 27951415
Biomarkers in Barrett's esophagus.
Reid BJ, Blount PL, Rabinovitch PS
Gastrointest Endosc Clin N Am 2003 Apr;13(2):369-97. doi: 10.1016/s1052-5157(03)00006-0. PMID: 12916666

Clinical prediction guides

Tumor acidosis-induced DNA damage response and tetraploidy enhance sensitivity to ATM and ATR inhibitors.
Aubert L, Bastien E, Renoult O, Guilbaud C, Özkan K, Brusa D, Bouzin C, Richiardone E, Richard C, Boidot R, Léonard D, Corbet C, Feron O
EMBO Rep 2024 Mar;25(3):1469-1489. Epub 2024 Feb 16 doi: 10.1038/s44319-024-00089-7. PMID: 38366255Free PMC Article
Cytokinesis Failure Leading to Chromosome Instability in v-Src-Induced Oncogenesis.
Nakayama Y, Soeda S, Ikeuchi M, Kakae K, Yamaguchi N
Int J Mol Sci 2017 Apr 12;18(4) doi: 10.3390/ijms18040811. PMID: 28417908Free PMC Article
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
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
Biomarkers in Barrett's esophagus.
Reid BJ, Blount PL, Rabinovitch PS
Gastrointest Endosc Clin N Am 2003 Apr;13(2):369-97. doi: 10.1016/s1052-5157(03)00006-0. PMID: 12916666

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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