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Polysomy

MedGen UID:
269463
•Concept ID:
C1514212
•
Cell or Molecular Dysfunction

Definition

The condition of having additional copies of a chromosome present in a cell. [from NCI]

Professional guidelines

PubMed

Genetic findings in treatment-naïve and proton-beam-radiated iris melanomas.
Krishna Y, Kalirai H, Thornton S, Damato BE, Heimann H, Coupland SE
Br J Ophthalmol 2016 Jul;100(7):1012-1016. Epub 2016 Apr 20 doi: 10.1136/bjophthalmol-2015-308301. PMID: 27098748
Primary Sclerosing Cholangitis as a Premalignant Biliary Tract Disease: Surveillance and Management.
Rizvi S, Eaton JE, Gores GJ
Clin Gastroenterol Hepatol 2015 Nov;13(12):2152-65. Epub 2015 Jun 5 doi: 10.1016/j.cgh.2015.05.035. PMID: 26051390Free PMC Article
Classification, diagnosis, and management of cholangiocarcinoma.
Razumilava N, Gores GJ
Clin Gastroenterol Hepatol 2013 Jan;11(1):13-21.e1; quiz e3-4. Epub 2012 Sep 13 doi: 10.1016/j.cgh.2012.09.009. PMID: 22982100Free PMC Article

Recent clinical studies

Etiology

Chromosomal instability in oral squamous cell carcinoma.
S Papanikolaou V, Kyrodimos E, Tsiambas E, Giotakis E, Psyrri A, Ragos V, Chrysovergis A
J BUON 2018 Nov-Dec;23(6):1580-1582. PMID: 30610780
p53 mutations in oral cavity carcinoma.
Ragos V, S Mastronikolis N, Tsiambas E, Baliou E, N Mastronikolis S, Tsoukalas N, E Patsouri E, P Fotiades P
J BUON 2018 Nov-Dec;23(6):1569-1572. PMID: 30610778
EGFR is not amplified in ameloblastoma.
Costa V, Fregnani ER, Fonseca FP, Abreu Alves F, Pinto CAL, Kaminagakura E
Oral Surg Oral Med Oral Pathol Oral Radiol 2018 May;125(5):454-458. Epub 2018 Mar 6 doi: 10.1016/j.oooo.2018.02.014. PMID: 29602688
Polysomy of chromosomes 1 and 19: an underestimated prognostic factor in oligodendroglial tumors.
Jiang H, Ren X, Zhang Z, Zeng W, Wang J, Lin S
J Neurooncol 2014 Oct;120(1):131-8. Epub 2014 Jul 10 doi: 10.1007/s11060-014-1526-y. PMID: 25007776
Genetic alterations and protein expression of HER2 and chromosome 17 polysomy in breast cancer.
Zhu X, Lu Y, Lu H, Yang W, Tu X, Cai X, Zhou X
Hum Pathol 2011 Oct;42(10):1499-504. Epub 2011 Jun 14 doi: 10.1016/j.humpath.2010.04.023. PMID: 21676436

Diagnosis

Genomic Landscape of Mixed-Phenotype Acute Leukemia.
Hennawi M, Pakasticali N, Tashkandi H, Hussaini M
Int J Mol Sci 2022 Sep 24;23(19) doi: 10.3390/ijms231911259. PMID: 36232559Free PMC Article
HER2 assessment by silver in situ hybridization: where are we now?
Sanguedolce F, Bufo P
Expert Rev Mol Diagn 2015 Mar;15(3):385-98. Epub 2015 Jan 12 doi: 10.1586/14737159.2015.992416. PMID: 25578771
Polysomy of chromosomes 1 and 19: an underestimated prognostic factor in oligodendroglial tumors.
Jiang H, Ren X, Zhang Z, Zeng W, Wang J, Lin S
J Neurooncol 2014 Oct;120(1):131-8. Epub 2014 Jul 10 doi: 10.1007/s11060-014-1526-y. PMID: 25007776
Classification, diagnosis, and management of cholangiocarcinoma.
Razumilava N, Gores GJ
Clin Gastroenterol Hepatol 2013 Jan;11(1):13-21.e1; quiz e3-4. Epub 2012 Sep 13 doi: 10.1016/j.cgh.2012.09.009. PMID: 22982100Free PMC Article
Polysomy and p16 deletion by fluorescence in situ hybridization in the diagnosis of indeterminate biliary strictures.
Gonda TA, Glick MP, Sethi A, Poneros JM, Palmas W, Iqbal S, Gonzalez S, Nandula SV, Emond JC, Brown RS, Murty VV, Stevens PD
Gastrointest Endosc 2012 Jan;75(1):74-9. Epub 2011 Nov 17 doi: 10.1016/j.gie.2011.08.022. PMID: 22100297

Therapy

HER2 assessment by silver in situ hybridization: where are we now?
Sanguedolce F, Bufo P
Expert Rev Mol Diagn 2015 Mar;15(3):385-98. Epub 2015 Jan 12 doi: 10.1586/14737159.2015.992416. PMID: 25578771
HER2 screening data from ToGA: targeting HER2 in gastric and gastroesophageal junction cancer.
Van Cutsem E, Bang YJ, Feng-Yi F, Xu JM, Lee KW, Jiao SC, Chong JL, López-Sanchez RI, Price T, Gladkov O, Stoss O, Hill J, Ng V, Lehle M, Thomas M, Kiermaier A, Rüschoff J
Gastric Cancer 2015 Jul;18(3):476-84. Epub 2014 Jul 20 doi: 10.1007/s10120-014-0402-y. PMID: 25038874Free PMC Article
HER2 in situ hybridization in breast cancer: clinical implications of polysomy 17 and genetic heterogeneity.
Hanna WM, Rüschoff J, Bilous M, Coudry RA, Dowsett M, Osamura RY, Penault-Llorca F, van de Vijver M, Viale G
Mod Pathol 2014 Jan;27(1):4-18. Epub 2013 Jun 28 doi: 10.1038/modpathol.2013.103. PMID: 23807776
The HER-2 receptor and breast cancer: ten years of targeted anti-HER-2 therapy and personalized medicine.
Ross JS, Slodkowska EA, Symmans WF, Pusztai L, Ravdin PM, Hortobagyi GN
Oncologist 2009 Apr;14(4):320-68. Epub 2009 Apr 3 doi: 10.1634/theoncologist.2008-0230. PMID: 19346299
Breast cancer biomarkers and HER2 testing after 10 years of anti-HER2 therapy.
Ross JS
Drug News Perspect 2009 Mar;22(2):93-106. doi: 10.1358/dnp.2009.22.2.1334452. PMID: 19330168

Prognosis

Genomic Landscape of Mixed-Phenotype Acute Leukemia.
Hennawi M, Pakasticali N, Tashkandi H, Hussaini M
Int J Mol Sci 2022 Sep 24;23(19) doi: 10.3390/ijms231911259. PMID: 36232559Free PMC Article
Chromosomal instability in oral squamous cell carcinoma.
S Papanikolaou V, Kyrodimos E, Tsiambas E, Giotakis E, Psyrri A, Ragos V, Chrysovergis A
J BUON 2018 Nov-Dec;23(6):1580-1582. PMID: 30610780
p53 mutations in oral cavity carcinoma.
Ragos V, S Mastronikolis N, Tsiambas E, Baliou E, N Mastronikolis S, Tsoukalas N, E Patsouri E, P Fotiades P
J BUON 2018 Nov-Dec;23(6):1569-1572. PMID: 30610778
HER2 assessment by silver in situ hybridization: where are we now?
Sanguedolce F, Bufo P
Expert Rev Mol Diagn 2015 Mar;15(3):385-98. Epub 2015 Jan 12 doi: 10.1586/14737159.2015.992416. PMID: 25578771
Polysomy of chromosomes 1 and 19: an underestimated prognostic factor in oligodendroglial tumors.
Jiang H, Ren X, Zhang Z, Zeng W, Wang J, Lin S
J Neurooncol 2014 Oct;120(1):131-8. Epub 2014 Jul 10 doi: 10.1007/s11060-014-1526-y. PMID: 25007776

Clinical prediction guides

p53 mutations in oral cavity carcinoma.
Ragos V, S Mastronikolis N, Tsiambas E, Baliou E, N Mastronikolis S, Tsoukalas N, E Patsouri E, P Fotiades P
J BUON 2018 Nov-Dec;23(6):1569-1572. PMID: 30610778
HER2 assessment by silver in situ hybridization: where are we now?
Sanguedolce F, Bufo P
Expert Rev Mol Diagn 2015 Mar;15(3):385-98. Epub 2015 Jan 12 doi: 10.1586/14737159.2015.992416. PMID: 25578771
HER2 screening data from ToGA: targeting HER2 in gastric and gastroesophageal junction cancer.
Van Cutsem E, Bang YJ, Feng-Yi F, Xu JM, Lee KW, Jiao SC, Chong JL, López-Sanchez RI, Price T, Gladkov O, Stoss O, Hill J, Ng V, Lehle M, Thomas M, Kiermaier A, Rüschoff J
Gastric Cancer 2015 Jul;18(3):476-84. Epub 2014 Jul 20 doi: 10.1007/s10120-014-0402-y. PMID: 25038874Free PMC Article
HER2 in situ hybridization in breast cancer: clinical implications of polysomy 17 and genetic heterogeneity.
Hanna WM, Rüschoff J, Bilous M, Coudry RA, Dowsett M, Osamura RY, Penault-Llorca F, van de Vijver M, Viale G
Mod Pathol 2014 Jan;27(1):4-18. Epub 2013 Jun 28 doi: 10.1038/modpathol.2013.103. PMID: 23807776
Genetic alterations and protein expression of HER2 and chromosome 17 polysomy in breast cancer.
Zhu X, Lu Y, Lu H, Yang W, Tu X, Cai X, Zhou X
Hum Pathol 2011 Oct;42(10):1499-504. Epub 2011 Jun 14 doi: 10.1016/j.humpath.2010.04.023. PMID: 21676436

Recent systematic reviews

Fluorescence in situ hybridization for diagnosis of cholangiocarcinoma in primary sclerosing cholangitis: a systematic review and meta-analysis.
Navaneethan U, Njei B, Venkatesh PG, Vargo JJ, Parsi MA
Gastrointest Endosc 2014 Jun;79(6):943-950.e3. Epub 2013 Dec 19 doi: 10.1016/j.gie.2013.11.001. PMID: 24360654
EGFR mutation testing on cytological and histological samples in non-small cell lung cancer: a Polish, single institution study and systematic review of European incidence.
Szumera-Ciećkiewicz A, Olszewski WT, Tysarowski A, Kowalski DM, Głogowski M, Krzakowski M, Siedlecki JA, Wągrodzki M, Prochorec-Sobieszek M
Int J Clin Exp Pathol 2013;6(12):2800-12. Epub 2013 Nov 15 PMID: 24294366Free PMC Article
Pentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findings.
Peitsidis P, Manolakos E, Peitsidou A, Petersen MB, Tsoplou P, Kadir R, Agapitos E
Fetal Diagn Ther 2009;26(1):1-5. Epub 2009 Oct 10 doi: 10.1159/000236351. PMID: 19816022

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